NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 30, 2023
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:: RCV000165711.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs)]

NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs)

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.844_850dup (p.Gln284fs)

Other names:

969ins7

HGVS:

NC_000017.11:g.43094682_43094688dup
NG_005905.2:g.123297_123303dup
NM_001407571.1:c.631_637dup
NM_001407581.1:c.844_850dup
NM_001407582.1:c.844_850dup
NM_001407583.1:c.844_850dup
NM_001407585.1:c.844_850dup
NM_001407587.1:c.841_847dup
NM_001407590.1:c.841_847dup
NM_001407591.1:c.841_847dup
NM_001407593.1:c.844_850dup
NM_001407594.1:c.844_850dup
NM_001407596.1:c.844_850dup
NM_001407597.1:c.844_850dup
NM_001407598.1:c.844_850dup
NM_001407602.1:c.844_850dup
NM_001407603.1:c.844_850dup
NM_001407605.1:c.844_850dup
NM_001407610.1:c.841_847dup
NM_001407611.1:c.841_847dup
NM_001407612.1:c.841_847dup
NM_001407613.1:c.841_847dup
NM_001407614.1:c.841_847dup
NM_001407615.1:c.841_847dup
NM_001407616.1:c.844_850dup
NM_001407617.1:c.844_850dup
NM_001407618.1:c.844_850dup
NM_001407619.1:c.844_850dup
NM_001407620.1:c.844_850dup
NM_001407621.1:c.844_850dup
NM_001407622.1:c.844_850dup
NM_001407623.1:c.844_850dup
NM_001407624.1:c.844_850dup
NM_001407625.1:c.844_850dup
NM_001407626.1:c.844_850dup
NM_001407627.1:c.841_847dup
NM_001407628.1:c.841_847dup
NM_001407629.1:c.841_847dup
NM_001407630.1:c.841_847dup
NM_001407631.1:c.841_847dup
NM_001407632.1:c.841_847dup
NM_001407633.1:c.841_847dup
NM_001407634.1:c.841_847dup
NM_001407635.1:c.841_847dup
NM_001407636.1:c.841_847dup
NM_001407637.1:c.841_847dup
NM_001407638.1:c.841_847dup
NM_001407639.1:c.844_850dup
NM_001407640.1:c.844_850dup
NM_001407641.1:c.844_850dup
NM_001407642.1:c.844_850dup
NM_001407644.1:c.841_847dup
NM_001407645.1:c.841_847dup
NM_001407646.1:c.835_841dup
NM_001407647.1:c.835_841dup
NM_001407648.1:c.721_727dup
NM_001407649.1:c.718_724dup
NM_001407652.1:c.844_850dup
NM_001407653.1:c.766_772dup
NM_001407654.1:c.766_772dup
NM_001407655.1:c.766_772dup
NM_001407656.1:c.766_772dup
NM_001407657.1:c.766_772dup
NM_001407658.1:c.766_772dup
NM_001407659.1:c.763_769dup
NM_001407660.1:c.763_769dup
NM_001407661.1:c.763_769dup
NM_001407662.1:c.763_769dup
NM_001407663.1:c.766_772dup
NM_001407664.1:c.721_727dup
NM_001407665.1:c.721_727dup
NM_001407666.1:c.721_727dup
NM_001407667.1:c.721_727dup
NM_001407668.1:c.721_727dup
NM_001407669.1:c.721_727dup
NM_001407670.1:c.718_724dup
NM_001407671.1:c.718_724dup
NM_001407672.1:c.718_724dup
NM_001407673.1:c.718_724dup
NM_001407674.1:c.721_727dup
NM_001407675.1:c.721_727dup
NM_001407676.1:c.721_727dup
NM_001407677.1:c.721_727dup
NM_001407678.1:c.721_727dup
NM_001407679.1:c.721_727dup
NM_001407680.1:c.721_727dup
NM_001407681.1:c.721_727dup
NM_001407682.1:c.721_727dup
NM_001407683.1:c.721_727dup
NM_001407684.1:c.844_850dup
NM_001407685.1:c.718_724dup
NM_001407686.1:c.718_724dup
NM_001407687.1:c.718_724dup
NM_001407688.1:c.718_724dup
NM_001407689.1:c.718_724dup
NM_001407690.1:c.718_724dup
NM_001407691.1:c.718_724dup
NM_001407692.1:c.703_709dup
NM_001407694.1:c.703_709dup
NM_001407695.1:c.703_709dup
NM_001407696.1:c.703_709dup
NM_001407697.1:c.703_709dup
NM_001407698.1:c.703_709dup
NM_001407724.1:c.703_709dup
NM_001407725.1:c.703_709dup
NM_001407726.1:c.703_709dup
NM_001407727.1:c.703_709dup
NM_001407728.1:c.703_709dup
NM_001407729.1:c.703_709dup
NM_001407730.1:c.703_709dup
NM_001407731.1:c.703_709dup
NM_001407732.1:c.703_709dup
NM_001407733.1:c.703_709dup
NM_001407734.1:c.703_709dup
NM_001407735.1:c.703_709dup
NM_001407736.1:c.703_709dup
NM_001407737.1:c.703_709dup
NM_001407738.1:c.703_709dup
NM_001407739.1:c.703_709dup
NM_001407740.1:c.700_706dup
NM_001407741.1:c.700_706dup
NM_001407742.1:c.700_706dup
NM_001407743.1:c.700_706dup
NM_001407744.1:c.700_706dup
NM_001407745.1:c.700_706dup
NM_001407746.1:c.700_706dup
NM_001407747.1:c.700_706dup
NM_001407748.1:c.700_706dup
NM_001407749.1:c.700_706dup
NM_001407750.1:c.703_709dup
NM_001407751.1:c.703_709dup
NM_001407752.1:c.703_709dup
NM_001407838.1:c.700_706dup
NM_001407839.1:c.700_706dup
NM_001407841.1:c.700_706dup
NM_001407842.1:c.700_706dup
NM_001407843.1:c.700_706dup
NM_001407844.1:c.700_706dup
NM_001407845.1:c.700_706dup
NM_001407846.1:c.700_706dup
NM_001407847.1:c.700_706dup
NM_001407848.1:c.700_706dup
NM_001407849.1:c.700_706dup
NM_001407850.1:c.703_709dup
NM_001407851.1:c.703_709dup
NM_001407852.1:c.703_709dup
NM_001407853.1:c.631_637dup
NM_001407854.1:c.844_850dup
NM_001407858.1:c.844_850dup
NM_001407859.1:c.844_850dup
NM_001407860.1:c.841_847dup
NM_001407861.1:c.841_847dup
NM_001407862.1:c.643_649dup
NM_001407863.1:c.721_727dup
NM_001407874.1:c.640_646dup
NM_001407875.1:c.640_646dup
NM_001407879.1:c.634_640dup
NM_001407881.1:c.634_640dup
NM_001407882.1:c.634_640dup
NM_001407884.1:c.634_640dup
NM_001407885.1:c.634_640dup
NM_001407886.1:c.634_640dup
NM_001407887.1:c.634_640dup
NM_001407889.1:c.634_640dup
NM_001407894.1:c.631_637dup
NM_001407895.1:c.631_637dup
NM_001407896.1:c.631_637dup
NM_001407897.1:c.631_637dup
NM_001407898.1:c.631_637dup
NM_001407899.1:c.631_637dup
NM_001407900.1:c.634_640dup
NM_001407902.1:c.634_640dup
NM_001407904.1:c.634_640dup
NM_001407906.1:c.634_640dup
NM_001407907.1:c.634_640dup
NM_001407908.1:c.634_640dup
NM_001407909.1:c.634_640dup
NM_001407910.1:c.634_640dup
NM_001407915.1:c.631_637dup
NM_001407916.1:c.631_637dup
NM_001407917.1:c.631_637dup
NM_001407918.1:c.631_637dup
NM_001407919.1:c.721_727dup
NM_001407920.1:c.580_586dup
NM_001407921.1:c.580_586dup
NM_001407922.1:c.580_586dup
NM_001407923.1:c.580_586dup
NM_001407924.1:c.580_586dup
NM_001407925.1:c.580_586dup
NM_001407926.1:c.580_586dup
NM_001407927.1:c.580_586dup
NM_001407928.1:c.580_586dup
NM_001407929.1:c.580_586dup
NM_001407930.1:c.577_583dup
NM_001407931.1:c.577_583dup
NM_001407932.1:c.577_583dup
NM_001407933.1:c.580_586dup
NM_001407934.1:c.577_583dup
NM_001407935.1:c.580_586dup
NM_001407936.1:c.577_583dup
NM_001407937.1:c.721_727dup
NM_001407938.1:c.721_727dup
NM_001407939.1:c.721_727dup
NM_001407940.1:c.718_724dup
NM_001407941.1:c.718_724dup
NM_001407942.1:c.703_709dup
NM_001407943.1:c.700_706dup
NM_001407944.1:c.703_709dup
NM_001407945.1:c.703_709dup
NM_001407946.1:c.511_517dup
NM_001407947.1:c.511_517dup
NM_001407948.1:c.511_517dup
NM_001407949.1:c.511_517dup
NM_001407950.1:c.511_517dup
NM_001407951.1:c.511_517dup
NM_001407952.1:c.511_517dup
NM_001407953.1:c.511_517dup
NM_001407954.1:c.508_514dup
NM_001407955.1:c.508_514dup
NM_001407956.1:c.508_514dup
NM_001407957.1:c.511_517dup
NM_001407958.1:c.508_514dup
NM_001407959.1:c.463_469dup
NM_001407960.1:c.463_469dup
NM_001407962.1:c.460_466dup
NM_001407963.1:c.463_469dup
NM_001407964.1:c.700_706dup
NM_001407965.1:c.340_346dup
NM_001407966.1:c.-45_-39dup
NM_001407967.1:c.-45_-39dup
NM_001407968.1:c.787+57_787+63dup
NM_001407969.1:c.787+57_787+63dup
NM_001407970.1:c.787+57_787+63dup
NM_001407971.1:c.787+57_787+63dup
NM_001407972.1:c.784+57_784+63dup
NM_001407973.1:c.787+57_787+63dup
NM_001407974.1:c.787+57_787+63dup
NM_001407975.1:c.787+57_787+63dup
NM_001407976.1:c.787+57_787+63dup
NM_001407977.1:c.787+57_787+63dup
NM_001407978.1:c.787+57_787+63dup
NM_001407979.1:c.787+57_787+63dup
NM_001407980.1:c.787+57_787+63dup
NM_001407981.1:c.787+57_787+63dup
NM_001407982.1:c.787+57_787+63dup
NM_001407983.1:c.787+57_787+63dup
NM_001407984.1:c.784+57_784+63dup
NM_001407985.1:c.784+57_784+63dup
NM_001407986.1:c.784+57_784+63dup
NM_001407990.1:c.787+57_787+63dup
NM_001407991.1:c.784+57_784+63dup
NM_001407992.1:c.784+57_784+63dup
NM_001407993.1:c.787+57_787+63dup
NM_001408392.1:c.784+57_784+63dup
NM_001408396.1:c.784+57_784+63dup
NM_001408397.1:c.784+57_784+63dup
NM_001408398.1:c.784+57_784+63dup
NM_001408399.1:c.784+57_784+63dup
NM_001408400.1:c.784+57_784+63dup
NM_001408401.1:c.784+57_784+63dup
NM_001408402.1:c.784+57_784+63dup
NM_001408403.1:c.787+57_787+63dup
NM_001408404.1:c.787+57_787+63dup
NM_001408406.1:c.790+54_790+60dup
NM_001408407.1:c.784+57_784+63dup
NM_001408408.1:c.778+57_778+63dup
NM_001408409.1:c.709+57_709+63dup
NM_001408410.1:c.646+57_646+63dup
NM_001408411.1:c.709+57_709+63dup
NM_001408412.1:c.709+57_709+63dup
NM_001408413.1:c.706+57_706+63dup
NM_001408414.1:c.709+57_709+63dup
NM_001408415.1:c.709+57_709+63dup
NM_001408416.1:c.706+57_706+63dup
NM_001408418.1:c.670+1159_670+1165dup
NM_001408419.1:c.670+1159_670+1165dup
NM_001408420.1:c.670+1159_670+1165dup
NM_001408421.1:c.667+1159_667+1165dup
NM_001408422.1:c.670+1159_670+1165dup
NM_001408423.1:c.670+1159_670+1165dup
NM_001408424.1:c.667+1159_667+1165dup
NM_001408425.1:c.664+57_664+63dup
NM_001408426.1:c.664+57_664+63dup
NM_001408427.1:c.664+57_664+63dup
NM_001408428.1:c.664+57_664+63dup
NM_001408429.1:c.664+57_664+63dup
NM_001408430.1:c.664+57_664+63dup
NM_001408431.1:c.667+1159_667+1165dup
NM_001408432.1:c.661+57_661+63dup
NM_001408433.1:c.661+57_661+63dup
NM_001408434.1:c.661+57_661+63dup
NM_001408435.1:c.661+57_661+63dup
NM_001408436.1:c.664+57_664+63dup
NM_001408437.1:c.664+57_664+63dup
NM_001408438.1:c.664+57_664+63dup
NM_001408439.1:c.664+57_664+63dup
NM_001408440.1:c.664+57_664+63dup
NM_001408441.1:c.664+57_664+63dup
NM_001408442.1:c.664+57_664+63dup
NM_001408443.1:c.664+57_664+63dup
NM_001408444.1:c.664+57_664+63dup
NM_001408445.1:c.661+57_661+63dup
NM_001408446.1:c.661+57_661+63dup
NM_001408447.1:c.661+57_661+63dup
NM_001408448.1:c.661+57_661+63dup
NM_001408450.1:c.661+57_661+63dup
NM_001408451.1:c.652+57_652+63dup
NM_001408452.1:c.646+57_646+63dup
NM_001408453.1:c.646+57_646+63dup
NM_001408454.1:c.646+57_646+63dup
NM_001408455.1:c.646+57_646+63dup
NM_001408456.1:c.646+57_646+63dup
NM_001408457.1:c.646+57_646+63dup
NM_001408458.1:c.646+57_646+63dup
NM_001408459.1:c.646+57_646+63dup
NM_001408460.1:c.646+57_646+63dup
NM_001408461.1:c.646+57_646+63dup
NM_001408462.1:c.643+57_643+63dup
NM_001408463.1:c.643+57_643+63dup
NM_001408464.1:c.643+57_643+63dup
NM_001408465.1:c.643+57_643+63dup
NM_001408466.1:c.646+57_646+63dup
NM_001408467.1:c.646+57_646+63dup
NM_001408468.1:c.643+57_643+63dup
NM_001408469.1:c.646+57_646+63dup
NM_001408470.1:c.643+57_643+63dup
NM_001408472.1:c.787+57_787+63dup
NM_001408473.1:c.784+57_784+63dup
NM_001408474.1:c.586+57_586+63dup
NM_001408475.1:c.583+57_583+63dup
NM_001408476.1:c.586+57_586+63dup
NM_001408478.1:c.577+57_577+63dup
NM_001408479.1:c.577+57_577+63dup
NM_001408480.1:c.577+57_577+63dup
NM_001408481.1:c.577+57_577+63dup
NM_001408482.1:c.577+57_577+63dup
NM_001408483.1:c.577+57_577+63dup
NM_001408484.1:c.577+57_577+63dup
NM_001408485.1:c.577+57_577+63dup
NM_001408489.1:c.577+57_577+63dup
NM_001408490.1:c.574+57_574+63dup
NM_001408491.1:c.574+57_574+63dup
NM_001408492.1:c.577+57_577+63dup
NM_001408493.1:c.574+57_574+63dup
NM_001408494.1:c.548-3655_548-3649dup
NM_001408495.1:c.545-3655_545-3649dup
NM_001408496.1:c.523+57_523+63dup
NM_001408497.1:c.523+57_523+63dup
NM_001408498.1:c.523+57_523+63dup
NM_001408499.1:c.523+57_523+63dup
NM_001408500.1:c.523+57_523+63dup
NM_001408501.1:c.523+57_523+63dup
NM_001408502.1:c.454+57_454+63dup
NM_001408503.1:c.520+57_520+63dup
NM_001408504.1:c.520+57_520+63dup
NM_001408505.1:c.520+57_520+63dup
NM_001408506.1:c.460+1159_460+1165dup
NM_001408507.1:c.460+1159_460+1165dup
NM_001408508.1:c.451+57_451+63dup
NM_001408509.1:c.451+57_451+63dup
NM_001408510.1:c.406+57_406+63dup
NM_001408511.1:c.404-3655_404-3649dup
NM_001408512.1:c.283+57_283+63dup
NM_001408513.1:c.577+57_577+63dup
NM_001408514.1:c.577+57_577+63dup
NM_007294.4:c.844_850dupMANE SELECT
NM_007297.4:c.703_709dup
NM_007298.4:c.787+57_787+63dup
NM_007299.4:c.787+57_787+63dup
NM_007300.4:c.844_850dup
NP_001394500.1:p.Gln213fs
NP_001394510.1:p.Gln284fs
NP_001394511.1:p.Gln284fs
NP_001394512.1:p.Gln284fs
NP_001394514.1:p.Gln284fs
NP_001394516.1:p.Gln283fs
NP_001394519.1:p.Gln283fs
NP_001394520.1:p.Gln283fs
NP_001394522.1:p.Gln284fs
NP_001394523.1:p.Gln284fs
NP_001394525.1:p.Gln284fs
NP_001394526.1:p.Gln284fs
NP_001394527.1:p.Gln284fs
NP_001394531.1:p.Gln284fs
NP_001394532.1:p.Gln284fs
NP_001394534.1:p.Gln284fs
NP_001394539.1:p.Gln283fs
NP_001394540.1:p.Gln283fs
NP_001394541.1:p.Gln283fs
NP_001394542.1:p.Gln283fs
NP_001394543.1:p.Gln283fs
NP_001394544.1:p.Gln283fs
NP_001394545.1:p.Gln284fs
NP_001394546.1:p.Gln284fs
NP_001394547.1:p.Gln284fs
NP_001394548.1:p.Gln284fs
NP_001394549.1:p.Gln284fs
NP_001394550.1:p.Gln284fs
NP_001394551.1:p.Gln284fs
NP_001394552.1:p.Gln284fs
NP_001394553.1:p.Gln284fs
NP_001394554.1:p.Gln284fs
NP_001394555.1:p.Gln284fs
NP_001394556.1:p.Gln283fs
NP_001394557.1:p.Gln283fs
NP_001394558.1:p.Gln283fs
NP_001394559.1:p.Gln283fs
NP_001394560.1:p.Gln283fs
NP_001394561.1:p.Gln283fs
NP_001394562.1:p.Gln283fs
NP_001394563.1:p.Gln283fs
NP_001394564.1:p.Gln283fs
NP_001394565.1:p.Gln283fs
NP_001394566.1:p.Gln283fs
NP_001394567.1:p.Gln283fs
NP_001394568.1:p.Gln284fs
NP_001394569.1:p.Gln284fs
NP_001394570.1:p.Gln284fs
NP_001394571.1:p.Gln284fs
NP_001394573.1:p.Gln283fs
NP_001394574.1:p.Gln283fs
NP_001394575.1:p.Gln281fs
NP_001394576.1:p.Gln281fs
NP_001394577.1:p.Gln243fs
NP_001394578.1:p.Gln242fs
NP_001394581.1:p.Gln284fs
NP_001394582.1:p.Gln258fs
NP_001394583.1:p.Gln258fs
NP_001394584.1:p.Gln258fs
NP_001394585.1:p.Gln258fs
NP_001394586.1:p.Gln258fs
NP_001394587.1:p.Gln258fs
NP_001394588.1:p.Gln257fs
NP_001394589.1:p.Gln257fs
NP_001394590.1:p.Gln257fs
NP_001394591.1:p.Gln257fs
NP_001394592.1:p.Gln258fs
NP_001394593.1:p.Gln243fs
NP_001394594.1:p.Gln243fs
NP_001394595.1:p.Gln243fs
NP_001394596.1:p.Gln243fs
NP_001394597.1:p.Gln243fs
NP_001394598.1:p.Gln243fs
NP_001394599.1:p.Gln242fs
NP_001394600.1:p.Gln242fs
NP_001394601.1:p.Gln242fs
NP_001394602.1:p.Gln242fs
NP_001394603.1:p.Gln243fs
NP_001394604.1:p.Gln243fs
NP_001394605.1:p.Gln243fs
NP_001394606.1:p.Gln243fs
NP_001394607.1:p.Gln243fs
NP_001394608.1:p.Gln243fs
NP_001394609.1:p.Gln243fs
NP_001394610.1:p.Gln243fs
NP_001394611.1:p.Gln243fs
NP_001394612.1:p.Gln243fs
NP_001394613.1:p.Gln284fs
NP_001394614.1:p.Gln242fs
NP_001394615.1:p.Gln242fs
NP_001394616.1:p.Gln242fs
NP_001394617.1:p.Gln242fs
NP_001394618.1:p.Gln242fs
NP_001394619.1:p.Gln242fs
NP_001394620.1:p.Gln242fs
NP_001394621.1:p.Gln237fs
NP_001394623.1:p.Gln237fs
NP_001394624.1:p.Gln237fs
NP_001394625.1:p.Gln237fs
NP_001394626.1:p.Gln237fs
NP_001394627.1:p.Gln237fs
NP_001394653.1:p.Gln237fs
NP_001394654.1:p.Gln237fs
NP_001394655.1:p.Gln237fs
NP_001394656.1:p.Gln237fs
NP_001394657.1:p.Gln237fs
NP_001394658.1:p.Gln237fs
NP_001394659.1:p.Gln237fs
NP_001394660.1:p.Gln237fs
NP_001394661.1:p.Gln237fs
NP_001394662.1:p.Gln237fs
NP_001394663.1:p.Gln237fs
NP_001394664.1:p.Gln237fs
NP_001394665.1:p.Gln237fs
NP_001394666.1:p.Gln237fs
NP_001394667.1:p.Gln237fs
NP_001394668.1:p.Gln237fs
NP_001394669.1:p.Gln236fs
NP_001394670.1:p.Gln236fs
NP_001394671.1:p.Gln236fs
NP_001394672.1:p.Gln236fs
NP_001394673.1:p.Gln236fs
NP_001394674.1:p.Gln236fs
NP_001394675.1:p.Gln236fs
NP_001394676.1:p.Gln236fs
NP_001394677.1:p.Gln236fs
NP_001394678.1:p.Gln236fs
NP_001394679.1:p.Gln237fs
NP_001394680.1:p.Gln237fs
NP_001394681.1:p.Gln237fs
NP_001394767.1:p.Gln236fs
NP_001394768.1:p.Gln236fs
NP_001394770.1:p.Gln236fs
NP_001394771.1:p.Gln236fs
NP_001394772.1:p.Gln236fs
NP_001394773.1:p.Gln236fs
NP_001394774.1:p.Gln236fs
NP_001394775.1:p.Gln236fs
NP_001394776.1:p.Gln236fs
NP_001394777.1:p.Gln236fs
NP_001394778.1:p.Gln236fs
NP_001394779.1:p.Gln237fs
NP_001394780.1:p.Gln237fs
NP_001394781.1:p.Gln237fs
NP_001394782.1:p.Gln213fs
NP_001394783.1:p.Gln284fs
NP_001394787.1:p.Gln284fs
NP_001394788.1:p.Gln284fs
NP_001394789.1:p.Gln283fs
NP_001394790.1:p.Gln283fs
NP_001394791.1:p.Gln217fs
NP_001394792.1:p.Gln243fs
NP_001394803.1:p.Gln216fs
NP_001394804.1:p.Gln216fs
NP_001394808.1:p.Gln214fs
NP_001394810.1:p.Gln214fs
NP_001394811.1:p.Gln214fs
NP_001394813.1:p.Gln214fs
NP_001394814.1:p.Gln214fs
NP_001394815.1:p.Gln214fs
NP_001394816.1:p.Gln214fs
NP_001394818.1:p.Gln214fs
NP_001394823.1:p.Gln213fs
NP_001394824.1:p.Gln213fs
NP_001394825.1:p.Gln213fs
NP_001394826.1:p.Gln213fs
NP_001394827.1:p.Gln213fs
NP_001394828.1:p.Gln213fs
NP_001394829.1:p.Gln214fs
NP_001394831.1:p.Gln214fs
NP_001394833.1:p.Gln214fs
NP_001394835.1:p.Gln214fs
NP_001394836.1:p.Gln214fs
NP_001394837.1:p.Gln214fs
NP_001394838.1:p.Gln214fs
NP_001394839.1:p.Gln214fs
NP_001394844.1:p.Gln213fs
NP_001394845.1:p.Gln213fs
NP_001394846.1:p.Gln213fs
NP_001394847.1:p.Gln213fs
NP_001394848.1:p.Gln243fs
NP_001394849.1:p.Gln196fs
NP_001394850.1:p.Gln196fs
NP_001394851.1:p.Gln196fs
NP_001394852.1:p.Gln196fs
NP_001394853.1:p.Gln196fs
NP_001394854.1:p.Gln196fs
NP_001394855.1:p.Gln196fs
NP_001394856.1:p.Gln196fs
NP_001394857.1:p.Gln196fs
NP_001394858.1:p.Gln196fs
NP_001394859.1:p.Gln195fs
NP_001394860.1:p.Gln195fs
NP_001394861.1:p.Gln195fs
NP_001394862.1:p.Gln196fs
NP_001394863.1:p.Gln195fs
NP_001394864.1:p.Gln196fs
NP_001394865.1:p.Gln195fs
NP_001394866.1:p.Gln243fs
NP_001394867.1:p.Gln243fs
NP_001394868.1:p.Gln243fs
NP_001394869.1:p.Gln242fs
NP_001394870.1:p.Gln242fs
NP_001394871.1:p.Gln237fs
NP_001394872.1:p.Gln236fs
NP_001394873.1:p.Gln237fs
NP_001394874.1:p.Gln237fs
NP_001394875.1:p.Gln173fs
NP_001394876.1:p.Gln173fs
NP_001394877.1:p.Gln173fs
NP_001394878.1:p.Gln173fs
NP_001394879.1:p.Gln173fs
NP_001394880.1:p.Gln173fs
NP_001394881.1:p.Gln173fs
NP_001394882.1:p.Gln173fs
NP_001394883.1:p.Gln172fs
NP_001394884.1:p.Gln172fs
NP_001394885.1:p.Gln172fs
NP_001394886.1:p.Gln173fs
NP_001394887.1:p.Gln172fs
NP_001394888.1:p.Gln157fs
NP_001394889.1:p.Gln157fs
NP_001394891.1:p.Gln156fs
NP_001394892.1:p.Gln157fs
NP_001394893.1:p.Gln236fs
NP_001394894.1:p.Gln116fs
NP_009225.1:p.Gln284Leufs
NP_009225.1:p.Gln284fs
NP_009228.2:p.Gln237fs
NP_009231.2:p.Gln284fs
LRG_292t1:c.843_849dup
LRG_292:g.123297_123303dup
LRG_292p1:p.Gln284Leufs
NC_000017.10:g.41246699_41246705dup
NC_000017.11:g.43094680_43094681insGTAATGA
NM_007294.3:c.843_849dup
NM_007294.3:c.844_850dupTCATTAC
NM_007294.4:c.844_850dup
NM_007294.4:c.844_850dupTCATTAC
NM_007300.3:c.844_850dupTCATTAC
NR_027676.1:n.979_985dup
U14680.1:n.969_970insTCATTAC
p.Gln284Leufs*5
p.Gln284fs
p.Q284LFS*5

Protein change:

Q116fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 969&base_change=ins TCATTAC; dbSNP: rs80357989

NCBI 1000 Genomes Browser:

rs80357989

Molecular consequence:

NM_001407966.1:c.-45_-39dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407967.1:c.-45_-39dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407571.1:c.631_637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.835_841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.835_841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.766_772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.766_772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.766_772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.766_772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.766_772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.766_772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.763_769dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.763_769dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.763_769dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.763_769dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.766_772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.631_637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.841_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.643_649dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.640_646dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.640_646dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.631_637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.631_637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.631_637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.631_637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.631_637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.631_637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.634_640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.631_637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.631_637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.631_637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.631_637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.580_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.580_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.580_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.580_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.580_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.580_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.580_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.580_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.580_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.580_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.577_583dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.577_583dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.577_583dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.580_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.577_583dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.580_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.577_583dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.721_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.718_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.511_517dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.511_517dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.511_517dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.511_517dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.511_517dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.511_517dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.511_517dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.511_517dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.508_514dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.508_514dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.508_514dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.511_517dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.508_514dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.463_469dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.463_469dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.460_466dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.463_469dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.700_706dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.340_346dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.703_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.844_850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+54_790+60dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+57_778+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+57_709+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+57_709+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+57_709+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+57_706+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+57_709+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+57_709+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+57_706+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1159_670+1165dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1159_670+1165dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1159_670+1165dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1159_667+1165dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1159_670+1165dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1159_670+1165dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1159_667+1165dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1159_667+1165dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+57_661+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+57_661+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+57_661+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+57_661+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+57_664+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+57_661+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+57_661+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+57_661+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+57_661+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+57_661+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+57_652+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+57_643+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+57_643+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+57_643+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+57_643+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+57_643+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+57_646+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+57_643+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+57_784+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+57_586+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+57_583+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+57_586+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+57_577+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+57_577+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+57_577+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+57_577+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+57_577+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+57_577+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+57_577+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+57_577+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+57_577+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+57_574+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+57_574+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+57_577+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+57_574+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3655_548-3649dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3655_545-3649dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+57_523+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+57_523+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+57_523+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+57_523+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+57_523+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+57_523+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+57_454+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+57_520+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+57_520+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+57_520+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1159_460+1165dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1159_460+1165dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+57_451+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+57_451+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+57_406+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3655_404-3649dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+57_283+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+57_577+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+57_577+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+57_787+63dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

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hypothetical protein [Bacillus atrophaeus]
hypothetical protein [Bacillus atrophaeus]
gi|489420126|ref|WP_003325880.1|

Protein
Mus musculus 15 days embryo head cDNA, RIKEN full-length enriched library, clone...
Mus musculus 15 days embryo head cDNA, RIKEN full-length enriched library, clone:D930033J18 product:protein tyrosine phosphatase, non-receptor type 14, full insert sequence
gi|26352090|dbj|AK086515.1|

Nucleotide
Mus musculus 10 days neonate cerebellum cDNA, RIKEN full-length enriched library...
Mus musculus 10 days neonate cerebellum cDNA, RIKEN full-length enriched library, clone:6530402L05 product:integrin beta 4 binding protein, full insert sequence
gi|12857960|dbj|AK018313.1|

Nucleotide
K0548G01-3 NIA Mouse Hematopoietic Stem Cell (Lin-/c-Kit+/Sca-1+) cDNA Library (...
K0548G01-3 NIA Mouse Hematopoietic Stem Cell (Lin-/c-Kit+/Sca-1+) cDNA Library (Long) Mus musculus cDNA clone NIA:K0548G01 IMAGE:30068520 3', mRNA sequence
gi|31496623|gnl|dbEST|18575715|gb|B 23.2|

Nucleotide
Homo sapiens microRNA 543 (MIR543), microRNA
Homo sapiens microRNA 543 (MIR543), microRNA
gi|262206159|ref|NR_030619.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000216452	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 30, 2020)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 12920083, 21232165, 22923021, 23397983, 23635950, 25940717, 26306726, 26852130, 28740454, 30940100, 32772980 Citation Link,
SCV001736476	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 30, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 12920083, 22923021, 23635950, 26852130, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000216452

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 30, 2020)

germline

clinical testing

PubMed (11)
[See all records that cite these PMIDs]

Citation Link,

SCV001736476

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 30, 2023)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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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

Citations

PubMed

The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

Stegel V, Krajc M, Zgajnar J, Teugels E, De Grève J, Hočevar M, Novaković S.

BMC Med Genet. 2011 Jan 14;12:9. doi: 10.1186/1471-2350-12-9.

PubMed [citation]

PMID:: 21232165
PMCID:: PMC3025939

Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening.

Krajc M, Zadnik V, Novaković S, Stegel V, Teugels E, Bešič N, Hočevar M, Vakselj A, De Grève J, Zgajnar J.

Clin Genet. 2014 Jan;85(1):59-63. doi: 10.1111/cge.12119. Epub 2013 Mar 11.

PubMed [citation]

PMID:: 23397983

See all PubMed Citations (12)

Details of each submission

From Ambry Genetics, SCV000216452.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

The c.844_850dupTCATTAC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of TCATTAC at nucleotide position 844, causing a translational frameshift with a predicted alternate stop codon (p.Q284Lfs*5). This mutation has been reported in several high-risk breast/ovarian cancer families (Ozcelik H, J. Med. Genet. 2003 Aug; 40(8):e91; Stegel V et al. BMC Med Genet, 2011 Jan;12:9; Novakovi S et al. Int J Oncol, 2012 Nov;41:1619-27; Dobrii J et al. J Hum Genet, 2013 Aug;58:501-7; Krajc M et al. Clin Genet, 2014 Jan;85:59-63; Minucci A et al. Expert Rev Mol Diagn, 2015 Aug;15:1383-403; Cini G et al. BMC Med Genet, 2016 Feb;17:11; Cvelbar M et al. Radiol Oncol, 2017 Jun;51:187-194; Gornjec A et al. BMC Cancer, 2019 Apr;19:296; Nguyen-Dumont T et al. Genet Res (Camb), 2020 08;102:e6) as well as in a pancreatic cancer cohort (Holter S et al. J Clin Oncol, 2015 Oct;33:3124-9). In particular, this mutation has been reported frequently in the Slovenian population (Stegel V et al. BMC Med Genet, 2011 Jan;12:9; Novakovi S et al. Int J Oncol, 2012 Nov;41:1619-27; Krajc M et al. Clin Genet, 2014 Jan;85:59-63). Of note, this alteration is also referred to as 969ins7, 970ins7 , and 850_851insTCATTAC in the literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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 Color Diagnostics, LLC DBA Color Health, SCV001736476.3

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

Description

This variant inserts 7 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is also known as 969ins7 and 970ins7 in the literature. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been detected in multiple individuals and families affected with breast and/or ovarian cancer (PMID: 12920083, 23635950, 26852130) including recurrent affected families in Slovenia (PMID: 22923021). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, 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

Last Updated: Nov 3, 2024

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