NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Jan 27, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000049156.26

Allele description [Variation Report for NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)]

NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)

Other names:

943ins10-ter275

HGVS:

NC_000017.10:g.41246731_41246740dupGCTCCACATG
NC_000017.11:g.43094714_43094723dup
NG_005905.2:g.123268_123277dup
NM_001407571.1:c.602_611dup
NM_001407581.1:c.815_824dup
NM_001407582.1:c.815_824dup
NM_001407583.1:c.815_824dup
NM_001407585.1:c.815_824dup
NM_001407587.1:c.812_821dup
NM_001407590.1:c.812_821dup
NM_001407591.1:c.812_821dup
NM_001407593.1:c.815_824dup
NM_001407594.1:c.815_824dup
NM_001407596.1:c.815_824dup
NM_001407597.1:c.815_824dup
NM_001407598.1:c.815_824dup
NM_001407602.1:c.815_824dup
NM_001407603.1:c.815_824dup
NM_001407605.1:c.815_824dup
NM_001407610.1:c.812_821dup
NM_001407611.1:c.812_821dup
NM_001407612.1:c.812_821dup
NM_001407613.1:c.812_821dup
NM_001407614.1:c.812_821dup
NM_001407615.1:c.812_821dup
NM_001407616.1:c.815_824dup
NM_001407617.1:c.815_824dup
NM_001407618.1:c.815_824dup
NM_001407619.1:c.815_824dup
NM_001407620.1:c.815_824dup
NM_001407621.1:c.815_824dup
NM_001407622.1:c.815_824dup
NM_001407623.1:c.815_824dup
NM_001407624.1:c.815_824dup
NM_001407625.1:c.815_824dup
NM_001407626.1:c.815_824dup
NM_001407627.1:c.812_821dup
NM_001407628.1:c.812_821dup
NM_001407629.1:c.812_821dup
NM_001407630.1:c.812_821dup
NM_001407631.1:c.812_821dup
NM_001407632.1:c.812_821dup
NM_001407633.1:c.812_821dup
NM_001407634.1:c.812_821dup
NM_001407635.1:c.812_821dup
NM_001407636.1:c.812_821dup
NM_001407637.1:c.812_821dup
NM_001407638.1:c.812_821dup
NM_001407639.1:c.815_824dup
NM_001407640.1:c.815_824dup
NM_001407641.1:c.815_824dup
NM_001407642.1:c.815_824dup
NM_001407644.1:c.812_821dup
NM_001407645.1:c.812_821dup
NM_001407646.1:c.806_815dup
NM_001407647.1:c.806_815dup
NM_001407648.1:c.692_701dup
NM_001407649.1:c.689_698dup
NM_001407652.1:c.815_824dup
NM_001407653.1:c.737_746dup
NM_001407654.1:c.737_746dup
NM_001407655.1:c.737_746dup
NM_001407656.1:c.737_746dup
NM_001407657.1:c.737_746dup
NM_001407658.1:c.737_746dup
NM_001407659.1:c.734_743dup
NM_001407660.1:c.734_743dup
NM_001407661.1:c.734_743dup
NM_001407662.1:c.734_743dup
NM_001407663.1:c.737_746dup
NM_001407664.1:c.692_701dup
NM_001407665.1:c.692_701dup
NM_001407666.1:c.692_701dup
NM_001407667.1:c.692_701dup
NM_001407668.1:c.692_701dup
NM_001407669.1:c.692_701dup
NM_001407670.1:c.689_698dup
NM_001407671.1:c.689_698dup
NM_001407672.1:c.689_698dup
NM_001407673.1:c.689_698dup
NM_001407674.1:c.692_701dup
NM_001407675.1:c.692_701dup
NM_001407676.1:c.692_701dup
NM_001407677.1:c.692_701dup
NM_001407678.1:c.692_701dup
NM_001407679.1:c.692_701dup
NM_001407680.1:c.692_701dup
NM_001407681.1:c.692_701dup
NM_001407682.1:c.692_701dup
NM_001407683.1:c.692_701dup
NM_001407684.1:c.815_824dup
NM_001407685.1:c.689_698dup
NM_001407686.1:c.689_698dup
NM_001407687.1:c.689_698dup
NM_001407688.1:c.689_698dup
NM_001407689.1:c.689_698dup
NM_001407690.1:c.689_698dup
NM_001407691.1:c.689_698dup
NM_001407692.1:c.674_683dup
NM_001407694.1:c.674_683dup
NM_001407695.1:c.674_683dup
NM_001407696.1:c.674_683dup
NM_001407697.1:c.674_683dup
NM_001407698.1:c.674_683dup
NM_001407724.1:c.674_683dup
NM_001407725.1:c.674_683dup
NM_001407726.1:c.674_683dup
NM_001407727.1:c.674_683dup
NM_001407728.1:c.674_683dup
NM_001407729.1:c.674_683dup
NM_001407730.1:c.674_683dup
NM_001407731.1:c.674_683dup
NM_001407732.1:c.674_683dup
NM_001407733.1:c.674_683dup
NM_001407734.1:c.674_683dup
NM_001407735.1:c.674_683dup
NM_001407736.1:c.674_683dup
NM_001407737.1:c.674_683dup
NM_001407738.1:c.674_683dup
NM_001407739.1:c.674_683dup
NM_001407740.1:c.671_680dup
NM_001407741.1:c.671_680dup
NM_001407742.1:c.671_680dup
NM_001407743.1:c.671_680dup
NM_001407744.1:c.671_680dup
NM_001407745.1:c.671_680dup
NM_001407746.1:c.671_680dup
NM_001407747.1:c.671_680dup
NM_001407748.1:c.671_680dup
NM_001407749.1:c.671_680dup
NM_001407750.1:c.674_683dup
NM_001407751.1:c.674_683dup
NM_001407752.1:c.674_683dup
NM_001407838.1:c.671_680dup
NM_001407839.1:c.671_680dup
NM_001407841.1:c.671_680dup
NM_001407842.1:c.671_680dup
NM_001407843.1:c.671_680dup
NM_001407844.1:c.671_680dup
NM_001407845.1:c.671_680dup
NM_001407846.1:c.671_680dup
NM_001407847.1:c.671_680dup
NM_001407848.1:c.671_680dup
NM_001407849.1:c.671_680dup
NM_001407850.1:c.674_683dup
NM_001407851.1:c.674_683dup
NM_001407852.1:c.674_683dup
NM_001407853.1:c.602_611dup
NM_001407854.1:c.815_824dup
NM_001407858.1:c.815_824dup
NM_001407859.1:c.815_824dup
NM_001407860.1:c.812_821dup
NM_001407861.1:c.812_821dup
NM_001407862.1:c.614_623dup
NM_001407863.1:c.692_701dup
NM_001407874.1:c.611_620dup
NM_001407875.1:c.611_620dup
NM_001407879.1:c.605_614dup
NM_001407881.1:c.605_614dup
NM_001407882.1:c.605_614dup
NM_001407884.1:c.605_614dup
NM_001407885.1:c.605_614dup
NM_001407886.1:c.605_614dup
NM_001407887.1:c.605_614dup
NM_001407889.1:c.605_614dup
NM_001407894.1:c.602_611dup
NM_001407895.1:c.602_611dup
NM_001407896.1:c.602_611dup
NM_001407897.1:c.602_611dup
NM_001407898.1:c.602_611dup
NM_001407899.1:c.602_611dup
NM_001407900.1:c.605_614dup
NM_001407902.1:c.605_614dup
NM_001407904.1:c.605_614dup
NM_001407906.1:c.605_614dup
NM_001407907.1:c.605_614dup
NM_001407908.1:c.605_614dup
NM_001407909.1:c.605_614dup
NM_001407910.1:c.605_614dup
NM_001407915.1:c.602_611dup
NM_001407916.1:c.602_611dup
NM_001407917.1:c.602_611dup
NM_001407918.1:c.602_611dup
NM_001407919.1:c.692_701dup
NM_001407920.1:c.551_560dup
NM_001407921.1:c.551_560dup
NM_001407922.1:c.551_560dup
NM_001407923.1:c.551_560dup
NM_001407924.1:c.551_560dup
NM_001407925.1:c.551_560dup
NM_001407926.1:c.551_560dup
NM_001407927.1:c.551_560dup
NM_001407928.1:c.551_560dup
NM_001407929.1:c.551_560dup
NM_001407930.1:c.548_557dup
NM_001407931.1:c.548_557dup
NM_001407932.1:c.548_557dup
NM_001407933.1:c.551_560dup
NM_001407934.1:c.548_557dup
NM_001407935.1:c.551_560dup
NM_001407936.1:c.548_557dup
NM_001407937.1:c.692_701dup
NM_001407938.1:c.692_701dup
NM_001407939.1:c.692_701dup
NM_001407940.1:c.689_698dup
NM_001407941.1:c.689_698dup
NM_001407942.1:c.674_683dup
NM_001407943.1:c.671_680dup
NM_001407944.1:c.674_683dup
NM_001407945.1:c.674_683dup
NM_001407946.1:c.482_491dup
NM_001407947.1:c.482_491dup
NM_001407948.1:c.482_491dup
NM_001407949.1:c.482_491dup
NM_001407950.1:c.482_491dup
NM_001407951.1:c.482_491dup
NM_001407952.1:c.482_491dup
NM_001407953.1:c.482_491dup
NM_001407954.1:c.479_488dup
NM_001407955.1:c.479_488dup
NM_001407956.1:c.479_488dup
NM_001407957.1:c.482_491dup
NM_001407958.1:c.479_488dup
NM_001407959.1:c.434_443dup
NM_001407960.1:c.434_443dup
NM_001407962.1:c.431_440dup
NM_001407963.1:c.434_443dup
NM_001407964.1:c.671_680dup
NM_001407965.1:c.311_320dup
NM_001407966.1:c.-74_-65dup
NM_001407967.1:c.-74_-65dup
NM_001407968.1:c.787+28_787+37dup
NM_001407969.1:c.787+28_787+37dup
NM_001407970.1:c.787+28_787+37dup
NM_001407971.1:c.787+28_787+37dup
NM_001407972.1:c.784+28_784+37dup
NM_001407973.1:c.787+28_787+37dup
NM_001407974.1:c.787+28_787+37dup
NM_001407975.1:c.787+28_787+37dup
NM_001407976.1:c.787+28_787+37dup
NM_001407977.1:c.787+28_787+37dup
NM_001407978.1:c.787+28_787+37dup
NM_001407979.1:c.787+28_787+37dup
NM_001407980.1:c.787+28_787+37dup
NM_001407981.1:c.787+28_787+37dup
NM_001407982.1:c.787+28_787+37dup
NM_001407983.1:c.787+28_787+37dup
NM_001407984.1:c.784+28_784+37dup
NM_001407985.1:c.784+28_784+37dup
NM_001407986.1:c.784+28_784+37dup
NM_001407990.1:c.787+28_787+37dup
NM_001407991.1:c.784+28_784+37dup
NM_001407992.1:c.784+28_784+37dup
NM_001407993.1:c.787+28_787+37dup
NM_001408392.1:c.784+28_784+37dup
NM_001408396.1:c.784+28_784+37dup
NM_001408397.1:c.784+28_784+37dup
NM_001408398.1:c.784+28_784+37dup
NM_001408399.1:c.784+28_784+37dup
NM_001408400.1:c.784+28_784+37dup
NM_001408401.1:c.784+28_784+37dup
NM_001408402.1:c.784+28_784+37dup
NM_001408403.1:c.787+28_787+37dup
NM_001408404.1:c.787+28_787+37dup
NM_001408406.1:c.790+25_790+34dup
NM_001408407.1:c.784+28_784+37dup
NM_001408408.1:c.778+28_778+37dup
NM_001408409.1:c.709+28_709+37dup
NM_001408410.1:c.646+28_646+37dup
NM_001408411.1:c.709+28_709+37dup
NM_001408412.1:c.709+28_709+37dup
NM_001408413.1:c.706+28_706+37dup
NM_001408414.1:c.709+28_709+37dup
NM_001408415.1:c.709+28_709+37dup
NM_001408416.1:c.706+28_706+37dup
NM_001408418.1:c.670+1130_670+1139dup
NM_001408419.1:c.670+1130_670+1139dup
NM_001408420.1:c.670+1130_670+1139dup
NM_001408421.1:c.667+1130_667+1139dup
NM_001408422.1:c.670+1130_670+1139dup
NM_001408423.1:c.670+1130_670+1139dup
NM_001408424.1:c.667+1130_667+1139dup
NM_001408425.1:c.664+28_664+37dup
NM_001408426.1:c.664+28_664+37dup
NM_001408427.1:c.664+28_664+37dup
NM_001408428.1:c.664+28_664+37dup
NM_001408429.1:c.664+28_664+37dup
NM_001408430.1:c.664+28_664+37dup
NM_001408431.1:c.667+1130_667+1139dup
NM_001408432.1:c.661+28_661+37dup
NM_001408433.1:c.661+28_661+37dup
NM_001408434.1:c.661+28_661+37dup
NM_001408435.1:c.661+28_661+37dup
NM_001408436.1:c.664+28_664+37dup
NM_001408437.1:c.664+28_664+37dup
NM_001408438.1:c.664+28_664+37dup
NM_001408439.1:c.664+28_664+37dup
NM_001408440.1:c.664+28_664+37dup
NM_001408441.1:c.664+28_664+37dup
NM_001408442.1:c.664+28_664+37dup
NM_001408443.1:c.664+28_664+37dup
NM_001408444.1:c.664+28_664+37dup
NM_001408445.1:c.661+28_661+37dup
NM_001408446.1:c.661+28_661+37dup
NM_001408447.1:c.661+28_661+37dup
NM_001408448.1:c.661+28_661+37dup
NM_001408450.1:c.661+28_661+37dup
NM_001408451.1:c.652+28_652+37dup
NM_001408452.1:c.646+28_646+37dup
NM_001408453.1:c.646+28_646+37dup
NM_001408454.1:c.646+28_646+37dup
NM_001408455.1:c.646+28_646+37dup
NM_001408456.1:c.646+28_646+37dup
NM_001408457.1:c.646+28_646+37dup
NM_001408458.1:c.646+28_646+37dup
NM_001408459.1:c.646+28_646+37dup
NM_001408460.1:c.646+28_646+37dup
NM_001408461.1:c.646+28_646+37dup
NM_001408462.1:c.643+28_643+37dup
NM_001408463.1:c.643+28_643+37dup
NM_001408464.1:c.643+28_643+37dup
NM_001408465.1:c.643+28_643+37dup
NM_001408466.1:c.646+28_646+37dup
NM_001408467.1:c.646+28_646+37dup
NM_001408468.1:c.643+28_643+37dup
NM_001408469.1:c.646+28_646+37dup
NM_001408470.1:c.643+28_643+37dup
NM_001408472.1:c.787+28_787+37dup
NM_001408473.1:c.784+28_784+37dup
NM_001408474.1:c.586+28_586+37dup
NM_001408475.1:c.583+28_583+37dup
NM_001408476.1:c.586+28_586+37dup
NM_001408478.1:c.577+28_577+37dup
NM_001408479.1:c.577+28_577+37dup
NM_001408480.1:c.577+28_577+37dup
NM_001408481.1:c.577+28_577+37dup
NM_001408482.1:c.577+28_577+37dup
NM_001408483.1:c.577+28_577+37dup
NM_001408484.1:c.577+28_577+37dup
NM_001408485.1:c.577+28_577+37dup
NM_001408489.1:c.577+28_577+37dup
NM_001408490.1:c.574+28_574+37dup
NM_001408491.1:c.574+28_574+37dup
NM_001408492.1:c.577+28_577+37dup
NM_001408493.1:c.574+28_574+37dup
NM_001408494.1:c.548-3684_548-3675dup
NM_001408495.1:c.545-3684_545-3675dup
NM_001408496.1:c.523+28_523+37dup
NM_001408497.1:c.523+28_523+37dup
NM_001408498.1:c.523+28_523+37dup
NM_001408499.1:c.523+28_523+37dup
NM_001408500.1:c.523+28_523+37dup
NM_001408501.1:c.523+28_523+37dup
NM_001408502.1:c.454+28_454+37dup
NM_001408503.1:c.520+28_520+37dup
NM_001408504.1:c.520+28_520+37dup
NM_001408505.1:c.520+28_520+37dup
NM_001408506.1:c.460+1130_460+1139dup
NM_001408507.1:c.460+1130_460+1139dup
NM_001408508.1:c.451+28_451+37dup
NM_001408509.1:c.451+28_451+37dup
NM_001408510.1:c.406+28_406+37dup
NM_001408511.1:c.404-3684_404-3675dup
NM_001408512.1:c.283+28_283+37dup
NM_001408513.1:c.577+28_577+37dup
NM_001408514.1:c.577+28_577+37dup
NM_007294.4:c.815_824dupMANE SELECT
NM_007294.4:c.815_824dupAGCCATGTGG
NM_007297.4:c.674_683dup
NM_007298.4:c.787+28_787+37dup
NM_007299.4:c.787+28_787+37dup
NM_007300.4:c.815_824dup
NP_001394500.1:p.Thr205fs
NP_001394510.1:p.Thr276fs
NP_001394511.1:p.Thr276fs
NP_001394512.1:p.Thr276fs
NP_001394514.1:p.Thr276fs
NP_001394516.1:p.Thr275fs
NP_001394519.1:p.Thr275fs
NP_001394520.1:p.Thr275fs
NP_001394522.1:p.Thr276fs
NP_001394523.1:p.Thr276fs
NP_001394525.1:p.Thr276fs
NP_001394526.1:p.Thr276fs
NP_001394527.1:p.Thr276fs
NP_001394531.1:p.Thr276fs
NP_001394532.1:p.Thr276fs
NP_001394534.1:p.Thr276fs
NP_001394539.1:p.Thr275fs
NP_001394540.1:p.Thr275fs
NP_001394541.1:p.Thr275fs
NP_001394542.1:p.Thr275fs
NP_001394543.1:p.Thr275fs
NP_001394544.1:p.Thr275fs
NP_001394545.1:p.Thr276fs
NP_001394546.1:p.Thr276fs
NP_001394547.1:p.Thr276fs
NP_001394548.1:p.Thr276fs
NP_001394549.1:p.Thr276fs
NP_001394550.1:p.Thr276fs
NP_001394551.1:p.Thr276fs
NP_001394552.1:p.Thr276fs
NP_001394553.1:p.Thr276fs
NP_001394554.1:p.Thr276fs
NP_001394555.1:p.Thr276fs
NP_001394556.1:p.Thr275fs
NP_001394557.1:p.Thr275fs
NP_001394558.1:p.Thr275fs
NP_001394559.1:p.Thr275fs
NP_001394560.1:p.Thr275fs
NP_001394561.1:p.Thr275fs
NP_001394562.1:p.Thr275fs
NP_001394563.1:p.Thr275fs
NP_001394564.1:p.Thr275fs
NP_001394565.1:p.Thr275fs
NP_001394566.1:p.Thr275fs
NP_001394567.1:p.Thr275fs
NP_001394568.1:p.Thr276fs
NP_001394569.1:p.Thr276fs
NP_001394570.1:p.Thr276fs
NP_001394571.1:p.Thr276fs
NP_001394573.1:p.Thr275fs
NP_001394574.1:p.Thr275fs
NP_001394575.1:p.Thr273fs
NP_001394576.1:p.Thr273fs
NP_001394577.1:p.Thr235fs
NP_001394578.1:p.Thr234fs
NP_001394581.1:p.Thr276fs
NP_001394582.1:p.Thr250fs
NP_001394583.1:p.Thr250fs
NP_001394584.1:p.Thr250fs
NP_001394585.1:p.Thr250fs
NP_001394586.1:p.Thr250fs
NP_001394587.1:p.Thr250fs
NP_001394588.1:p.Thr249fs
NP_001394589.1:p.Thr249fs
NP_001394590.1:p.Thr249fs
NP_001394591.1:p.Thr249fs
NP_001394592.1:p.Thr250fs
NP_001394593.1:p.Thr235fs
NP_001394594.1:p.Thr235fs
NP_001394595.1:p.Thr235fs
NP_001394596.1:p.Thr235fs
NP_001394597.1:p.Thr235fs
NP_001394598.1:p.Thr235fs
NP_001394599.1:p.Thr234fs
NP_001394600.1:p.Thr234fs
NP_001394601.1:p.Thr234fs
NP_001394602.1:p.Thr234fs
NP_001394603.1:p.Thr235fs
NP_001394604.1:p.Thr235fs
NP_001394605.1:p.Thr235fs
NP_001394606.1:p.Thr235fs
NP_001394607.1:p.Thr235fs
NP_001394608.1:p.Thr235fs
NP_001394609.1:p.Thr235fs
NP_001394610.1:p.Thr235fs
NP_001394611.1:p.Thr235fs
NP_001394612.1:p.Thr235fs
NP_001394613.1:p.Thr276fs
NP_001394614.1:p.Thr234fs
NP_001394615.1:p.Thr234fs
NP_001394616.1:p.Thr234fs
NP_001394617.1:p.Thr234fs
NP_001394618.1:p.Thr234fs
NP_001394619.1:p.Thr234fs
NP_001394620.1:p.Thr234fs
NP_001394621.1:p.Thr229fs
NP_001394623.1:p.Thr229fs
NP_001394624.1:p.Thr229fs
NP_001394625.1:p.Thr229fs
NP_001394626.1:p.Thr229fs
NP_001394627.1:p.Thr229fs
NP_001394653.1:p.Thr229fs
NP_001394654.1:p.Thr229fs
NP_001394655.1:p.Thr229fs
NP_001394656.1:p.Thr229fs
NP_001394657.1:p.Thr229fs
NP_001394658.1:p.Thr229fs
NP_001394659.1:p.Thr229fs
NP_001394660.1:p.Thr229fs
NP_001394661.1:p.Thr229fs
NP_001394662.1:p.Thr229fs
NP_001394663.1:p.Thr229fs
NP_001394664.1:p.Thr229fs
NP_001394665.1:p.Thr229fs
NP_001394666.1:p.Thr229fs
NP_001394667.1:p.Thr229fs
NP_001394668.1:p.Thr229fs
NP_001394669.1:p.Thr228fs
NP_001394670.1:p.Thr228fs
NP_001394671.1:p.Thr228fs
NP_001394672.1:p.Thr228fs
NP_001394673.1:p.Thr228fs
NP_001394674.1:p.Thr228fs
NP_001394675.1:p.Thr228fs
NP_001394676.1:p.Thr228fs
NP_001394677.1:p.Thr228fs
NP_001394678.1:p.Thr228fs
NP_001394679.1:p.Thr229fs
NP_001394680.1:p.Thr229fs
NP_001394681.1:p.Thr229fs
NP_001394767.1:p.Thr228fs
NP_001394768.1:p.Thr228fs
NP_001394770.1:p.Thr228fs
NP_001394771.1:p.Thr228fs
NP_001394772.1:p.Thr228fs
NP_001394773.1:p.Thr228fs
NP_001394774.1:p.Thr228fs
NP_001394775.1:p.Thr228fs
NP_001394776.1:p.Thr228fs
NP_001394777.1:p.Thr228fs
NP_001394778.1:p.Thr228fs
NP_001394779.1:p.Thr229fs
NP_001394780.1:p.Thr229fs
NP_001394781.1:p.Thr229fs
NP_001394782.1:p.Thr205fs
NP_001394783.1:p.Thr276fs
NP_001394787.1:p.Thr276fs
NP_001394788.1:p.Thr276fs
NP_001394789.1:p.Thr275fs
NP_001394790.1:p.Thr275fs
NP_001394791.1:p.Thr209fs
NP_001394792.1:p.Thr235fs
NP_001394803.1:p.Thr208fs
NP_001394804.1:p.Thr208fs
NP_001394808.1:p.Thr206fs
NP_001394810.1:p.Thr206fs
NP_001394811.1:p.Thr206fs
NP_001394813.1:p.Thr206fs
NP_001394814.1:p.Thr206fs
NP_001394815.1:p.Thr206fs
NP_001394816.1:p.Thr206fs
NP_001394818.1:p.Thr206fs
NP_001394823.1:p.Thr205fs
NP_001394824.1:p.Thr205fs
NP_001394825.1:p.Thr205fs
NP_001394826.1:p.Thr205fs
NP_001394827.1:p.Thr205fs
NP_001394828.1:p.Thr205fs
NP_001394829.1:p.Thr206fs
NP_001394831.1:p.Thr206fs
NP_001394833.1:p.Thr206fs
NP_001394835.1:p.Thr206fs
NP_001394836.1:p.Thr206fs
NP_001394837.1:p.Thr206fs
NP_001394838.1:p.Thr206fs
NP_001394839.1:p.Thr206fs
NP_001394844.1:p.Thr205fs
NP_001394845.1:p.Thr205fs
NP_001394846.1:p.Thr205fs
NP_001394847.1:p.Thr205fs
NP_001394848.1:p.Thr235fs
NP_001394849.1:p.Thr188fs
NP_001394850.1:p.Thr188fs
NP_001394851.1:p.Thr188fs
NP_001394852.1:p.Thr188fs
NP_001394853.1:p.Thr188fs
NP_001394854.1:p.Thr188fs
NP_001394855.1:p.Thr188fs
NP_001394856.1:p.Thr188fs
NP_001394857.1:p.Thr188fs
NP_001394858.1:p.Thr188fs
NP_001394859.1:p.Thr187fs
NP_001394860.1:p.Thr187fs
NP_001394861.1:p.Thr187fs
NP_001394862.1:p.Thr188fs
NP_001394863.1:p.Thr187fs
NP_001394864.1:p.Thr188fs
NP_001394865.1:p.Thr187fs
NP_001394866.1:p.Thr235fs
NP_001394867.1:p.Thr235fs
NP_001394868.1:p.Thr235fs
NP_001394869.1:p.Thr234fs
NP_001394870.1:p.Thr234fs
NP_001394871.1:p.Thr229fs
NP_001394872.1:p.Thr228fs
NP_001394873.1:p.Thr229fs
NP_001394874.1:p.Thr229fs
NP_001394875.1:p.Thr165fs
NP_001394876.1:p.Thr165fs
NP_001394877.1:p.Thr165fs
NP_001394878.1:p.Thr165fs
NP_001394879.1:p.Thr165fs
NP_001394880.1:p.Thr165fs
NP_001394881.1:p.Thr165fs
NP_001394882.1:p.Thr165fs
NP_001394883.1:p.Thr164fs
NP_001394884.1:p.Thr164fs
NP_001394885.1:p.Thr164fs
NP_001394886.1:p.Thr165fs
NP_001394887.1:p.Thr164fs
NP_001394888.1:p.Thr149fs
NP_001394889.1:p.Thr149fs
NP_001394891.1:p.Thr148fs
NP_001394892.1:p.Thr149fs
NP_001394893.1:p.Thr228fs
NP_001394894.1:p.Thr108fs
NP_009225.1:p.Thr276Alafs
NP_009225.1:p.Thr276fs
NP_009228.2:p.Thr229fs
NP_009231.2:p.Thr276fs
LRG_292t1:c.808_817dup
LRG_292:g.123268_123277dup
LRG_292p1:p.Thr276Alafs
NC_000017.10:g.41246723_41246724insCCACATGGCT
NC_000017.10:g.41246731_41246740dup
NC_000017.10:g.41246731_41246740dup
NC_000017.10:g.41246731_41246740dupGCTCCACATG
NC_000017.11:g.43094706_43094707insCCACATGGCT
NM_007294.3:c.808_817dup
NM_007294.3:c.815_824dupAGCCATGTGG
NM_007294.4:c.815_824dup
NR_027676.1:n.944_953dup
p.T276Afs*14
p.T276AfsX14
p.Thr276Alafs*14
p.Thr276fs

Protein change:

T108fs

Links:

OMIM: 113705.0029; dbSNP: rs387906563

NCBI 1000 Genomes Browser:

rs387906563

Molecular consequence:

NM_001407966.1:c.-74_-65dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407967.1:c.-74_-65dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407571.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.806_815dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.806_815dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.734_743dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.734_743dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.734_743dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.734_743dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.614_623dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.611_620dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.611_620dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.548_557dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.548_557dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.548_557dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.548_557dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.548_557dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.479_488dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.479_488dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.479_488dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.479_488dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.434_443dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.434_443dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.431_440dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.434_443dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.311_320dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+25_790+34dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+28_778+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+28_709+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+28_709+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+28_709+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+28_706+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+28_709+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+28_709+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+28_706+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1130_670+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1130_670+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1130_670+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1130_667+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1130_670+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1130_670+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1130_667+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1130_667+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+28_652+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+28_643+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+28_643+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+28_643+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+28_643+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+28_643+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+28_643+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+28_586+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+28_583+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+28_586+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+28_574+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+28_574+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+28_574+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3684_548-3675dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3684_545-3675dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+28_523+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+28_523+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+28_523+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+28_523+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+28_523+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+28_523+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+28_454+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+28_520+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+28_520+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+28_520+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1130_460+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1130_460+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+28_451+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+28_451+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+28_406+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3684_404-3675dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+28_283+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000077169	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 27, 2024)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 20104584, 9150149, 10417303, 26681312, 28503720, 28492532
SCV000699312	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Jan 30, 2017)	germline	clinical testing	PubMed (10) [See all records that cite these PMIDs] 22739995, 22006311, 12491487, 10417303, 22762150, 21913181, 17591843, 9150149, 21120943, 22848303 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV002097627	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004847396	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 13, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 22006311, 9150149, 10417303, 28944232, 25741868

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, literature only

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK.

Genet Med. 2016 Aug;18(8):823-32. doi: 10.1038/gim.2015.166. Epub 2015 Dec 17. Erratum in: Genet Med. 2016 May;18(5):531-2.

PubMed [citation]

PMID:: 26681312
PMCID:: PMC4985612

See all PubMed Citations (16)

Details of each submission

From Invitae, SCV000077169.16

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Thr276Alafs*14) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs387906563, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 9150149, 10417303, 26681312, 28503720). This variant is also known as 926ins10, ter289, and 943ins10. ClinVar contains an entry for this variant (Variation ID: 55723). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699312.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (10)

Description

Variant summary: The BRCA1 c.815_824dupAGCCATGTGG (p.Thr276Alafs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g.c.843_846delCTCA/p.Ser282fs). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121190 control chromosomes. It has been reported in multiple affected individuals and multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneReviews, SCV002097627.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Founder variant in those of West African ancestry

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV004847396.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

The p.Thr276AlafsX14 variant in BRCA1 has been reported in multiple individuals with BRCA1-associated cancers bnand is believed to be a founder variant of African origin (Stoppa-Lyonnet 1997 PMID: 9150149, Mefford 1999 PMID: 10417303, Walsh 2011 PMID: 22006311, Buleje 2017 PMID: 28944232). This variant has also been reported by other clinical laboratories in ClinVar (Variation ID 55723) and has been identified in 0.01% (4/41360) of African or African American chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.3.1.2). This frequency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer (HBOC) in the general population. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 276 and leads to a premature termination codon 14 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA1 gene is an established disease mechanism in autosomal dominant HBOC. In the compound heterozygous or homozygous state, these variants are associated with autosomal recessive Fanconi anemia. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant HBOC. ACMG/AMP Criteria applied: PVS1, PS4_Moderate, PM2_Supporting.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 19, 2024

ClinVar

Relating variation to medicine