NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001351578.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys)]

NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys)
HGVS:
  • NC_000017.11:g.43091477C>T
  • NG_005905.2:g.126507G>A
  • NG_087068.1:g.459C>T
  • NM_001407571.1:c.3841G>A
  • NM_001407581.1:c.4054G>A
  • NM_001407582.1:c.4054G>A
  • NM_001407583.1:c.4054G>A
  • NM_001407585.1:c.4054G>A
  • NM_001407587.1:c.4051G>A
  • NM_001407590.1:c.4051G>A
  • NM_001407591.1:c.4051G>A
  • NM_001407593.1:c.4054G>A
  • NM_001407594.1:c.4054G>A
  • NM_001407596.1:c.4054G>A
  • NM_001407597.1:c.4054G>A
  • NM_001407598.1:c.4054G>A
  • NM_001407602.1:c.4054G>A
  • NM_001407603.1:c.4054G>A
  • NM_001407605.1:c.4054G>A
  • NM_001407610.1:c.4051G>A
  • NM_001407611.1:c.4051G>A
  • NM_001407612.1:c.4051G>A
  • NM_001407613.1:c.4051G>A
  • NM_001407614.1:c.4051G>A
  • NM_001407615.1:c.4051G>A
  • NM_001407616.1:c.4054G>A
  • NM_001407617.1:c.4054G>A
  • NM_001407618.1:c.4054G>A
  • NM_001407619.1:c.4054G>A
  • NM_001407620.1:c.4054G>A
  • NM_001407621.1:c.4054G>A
  • NM_001407622.1:c.4054G>A
  • NM_001407623.1:c.4054G>A
  • NM_001407624.1:c.4054G>A
  • NM_001407625.1:c.4054G>A
  • NM_001407626.1:c.4054G>A
  • NM_001407627.1:c.4051G>A
  • NM_001407628.1:c.4051G>A
  • NM_001407629.1:c.4051G>A
  • NM_001407630.1:c.4051G>A
  • NM_001407631.1:c.4051G>A
  • NM_001407632.1:c.4051G>A
  • NM_001407633.1:c.4051G>A
  • NM_001407634.1:c.4051G>A
  • NM_001407635.1:c.4051G>A
  • NM_001407636.1:c.4051G>A
  • NM_001407637.1:c.4051G>A
  • NM_001407638.1:c.4051G>A
  • NM_001407639.1:c.4054G>A
  • NM_001407640.1:c.4054G>A
  • NM_001407641.1:c.4054G>A
  • NM_001407642.1:c.4054G>A
  • NM_001407644.1:c.4051G>A
  • NM_001407645.1:c.4051G>A
  • NM_001407646.1:c.4045G>A
  • NM_001407647.1:c.4045G>A
  • NM_001407648.1:c.3931G>A
  • NM_001407649.1:c.3928G>A
  • NM_001407652.1:c.4054G>A
  • NM_001407653.1:c.3976G>A
  • NM_001407654.1:c.3976G>A
  • NM_001407655.1:c.3976G>A
  • NM_001407656.1:c.3976G>A
  • NM_001407657.1:c.3976G>A
  • NM_001407658.1:c.3976G>A
  • NM_001407659.1:c.3973G>A
  • NM_001407660.1:c.3973G>A
  • NM_001407661.1:c.3973G>A
  • NM_001407662.1:c.3973G>A
  • NM_001407663.1:c.3976G>A
  • NM_001407664.1:c.3931G>A
  • NM_001407665.1:c.3931G>A
  • NM_001407666.1:c.3931G>A
  • NM_001407667.1:c.3931G>A
  • NM_001407668.1:c.3931G>A
  • NM_001407669.1:c.3931G>A
  • NM_001407670.1:c.3928G>A
  • NM_001407671.1:c.3928G>A
  • NM_001407672.1:c.3928G>A
  • NM_001407673.1:c.3928G>A
  • NM_001407674.1:c.3931G>A
  • NM_001407675.1:c.3931G>A
  • NM_001407676.1:c.3931G>A
  • NM_001407677.1:c.3931G>A
  • NM_001407678.1:c.3931G>A
  • NM_001407679.1:c.3931G>A
  • NM_001407680.1:c.3931G>A
  • NM_001407681.1:c.3931G>A
  • NM_001407682.1:c.3931G>A
  • NM_001407683.1:c.3931G>A
  • NM_001407684.1:c.4054G>A
  • NM_001407685.1:c.3928G>A
  • NM_001407686.1:c.3928G>A
  • NM_001407687.1:c.3928G>A
  • NM_001407688.1:c.3928G>A
  • NM_001407689.1:c.3928G>A
  • NM_001407690.1:c.3928G>A
  • NM_001407691.1:c.3928G>A
  • NM_001407692.1:c.3913G>A
  • NM_001407694.1:c.3913G>A
  • NM_001407695.1:c.3913G>A
  • NM_001407696.1:c.3913G>A
  • NM_001407697.1:c.3913G>A
  • NM_001407698.1:c.3913G>A
  • NM_001407724.1:c.3913G>A
  • NM_001407725.1:c.3913G>A
  • NM_001407726.1:c.3913G>A
  • NM_001407727.1:c.3913G>A
  • NM_001407728.1:c.3913G>A
  • NM_001407729.1:c.3913G>A
  • NM_001407730.1:c.3913G>A
  • NM_001407731.1:c.3913G>A
  • NM_001407732.1:c.3913G>A
  • NM_001407733.1:c.3913G>A
  • NM_001407734.1:c.3913G>A
  • NM_001407735.1:c.3913G>A
  • NM_001407736.1:c.3913G>A
  • NM_001407737.1:c.3913G>A
  • NM_001407738.1:c.3913G>A
  • NM_001407739.1:c.3913G>A
  • NM_001407740.1:c.3910G>A
  • NM_001407741.1:c.3910G>A
  • NM_001407742.1:c.3910G>A
  • NM_001407743.1:c.3910G>A
  • NM_001407744.1:c.3910G>A
  • NM_001407745.1:c.3910G>A
  • NM_001407746.1:c.3910G>A
  • NM_001407747.1:c.3910G>A
  • NM_001407748.1:c.3910G>A
  • NM_001407749.1:c.3910G>A
  • NM_001407750.1:c.3913G>A
  • NM_001407751.1:c.3913G>A
  • NM_001407752.1:c.3913G>A
  • NM_001407838.1:c.3910G>A
  • NM_001407839.1:c.3910G>A
  • NM_001407841.1:c.3910G>A
  • NM_001407842.1:c.3910G>A
  • NM_001407843.1:c.3910G>A
  • NM_001407844.1:c.3910G>A
  • NM_001407845.1:c.3910G>A
  • NM_001407846.1:c.3910G>A
  • NM_001407847.1:c.3910G>A
  • NM_001407848.1:c.3910G>A
  • NM_001407849.1:c.3910G>A
  • NM_001407850.1:c.3913G>A
  • NM_001407851.1:c.3913G>A
  • NM_001407852.1:c.3913G>A
  • NM_001407853.1:c.3841G>A
  • NM_001407854.1:c.4054G>A
  • NM_001407858.1:c.4054G>A
  • NM_001407859.1:c.4054G>A
  • NM_001407860.1:c.4051G>A
  • NM_001407861.1:c.4051G>A
  • NM_001407862.1:c.3853G>A
  • NM_001407863.1:c.3931G>A
  • NM_001407874.1:c.3850G>A
  • NM_001407875.1:c.3850G>A
  • NM_001407879.1:c.3844G>A
  • NM_001407881.1:c.3844G>A
  • NM_001407882.1:c.3844G>A
  • NM_001407884.1:c.3844G>A
  • NM_001407885.1:c.3844G>A
  • NM_001407886.1:c.3844G>A
  • NM_001407887.1:c.3844G>A
  • NM_001407889.1:c.3844G>A
  • NM_001407894.1:c.3841G>A
  • NM_001407895.1:c.3841G>A
  • NM_001407896.1:c.3841G>A
  • NM_001407897.1:c.3841G>A
  • NM_001407898.1:c.3841G>A
  • NM_001407899.1:c.3841G>A
  • NM_001407900.1:c.3844G>A
  • NM_001407902.1:c.3844G>A
  • NM_001407904.1:c.3844G>A
  • NM_001407906.1:c.3844G>A
  • NM_001407907.1:c.3844G>A
  • NM_001407908.1:c.3844G>A
  • NM_001407909.1:c.3844G>A
  • NM_001407910.1:c.3844G>A
  • NM_001407915.1:c.3841G>A
  • NM_001407916.1:c.3841G>A
  • NM_001407917.1:c.3841G>A
  • NM_001407918.1:c.3841G>A
  • NM_001407919.1:c.3931G>A
  • NM_001407920.1:c.3790G>A
  • NM_001407921.1:c.3790G>A
  • NM_001407922.1:c.3790G>A
  • NM_001407923.1:c.3790G>A
  • NM_001407924.1:c.3790G>A
  • NM_001407925.1:c.3790G>A
  • NM_001407926.1:c.3790G>A
  • NM_001407927.1:c.3790G>A
  • NM_001407928.1:c.3790G>A
  • NM_001407929.1:c.3790G>A
  • NM_001407930.1:c.3787G>A
  • NM_001407931.1:c.3787G>A
  • NM_001407932.1:c.3787G>A
  • NM_001407933.1:c.3790G>A
  • NM_001407934.1:c.3787G>A
  • NM_001407935.1:c.3790G>A
  • NM_001407936.1:c.3787G>A
  • NM_001407937.1:c.3931G>A
  • NM_001407938.1:c.3931G>A
  • NM_001407939.1:c.3931G>A
  • NM_001407940.1:c.3928G>A
  • NM_001407941.1:c.3928G>A
  • NM_001407942.1:c.3913G>A
  • NM_001407943.1:c.3910G>A
  • NM_001407944.1:c.3913G>A
  • NM_001407945.1:c.3913G>A
  • NM_001407946.1:c.3721G>A
  • NM_001407947.1:c.3721G>A
  • NM_001407948.1:c.3721G>A
  • NM_001407949.1:c.3721G>A
  • NM_001407950.1:c.3721G>A
  • NM_001407951.1:c.3721G>A
  • NM_001407952.1:c.3721G>A
  • NM_001407953.1:c.3721G>A
  • NM_001407954.1:c.3718G>A
  • NM_001407955.1:c.3718G>A
  • NM_001407956.1:c.3718G>A
  • NM_001407957.1:c.3721G>A
  • NM_001407958.1:c.3718G>A
  • NM_001407959.1:c.3673G>A
  • NM_001407960.1:c.3673G>A
  • NM_001407962.1:c.3670G>A
  • NM_001407963.1:c.3673G>A
  • NM_001407964.1:c.3910G>A
  • NM_001407965.1:c.3550G>A
  • NM_001407966.1:c.3166G>A
  • NM_001407967.1:c.3166G>A
  • NM_001407968.1:c.1450G>A
  • NM_001407969.1:c.1450G>A
  • NM_001407970.1:c.788-445G>A
  • NM_001407971.1:c.788-445G>A
  • NM_001407972.1:c.785-445G>A
  • NM_001407973.1:c.788-445G>A
  • NM_001407974.1:c.788-445G>A
  • NM_001407975.1:c.788-445G>A
  • NM_001407976.1:c.788-445G>A
  • NM_001407977.1:c.788-445G>A
  • NM_001407978.1:c.788-445G>A
  • NM_001407979.1:c.788-445G>A
  • NM_001407980.1:c.788-445G>A
  • NM_001407981.1:c.788-445G>A
  • NM_001407982.1:c.788-445G>A
  • NM_001407983.1:c.788-445G>A
  • NM_001407984.1:c.785-445G>A
  • NM_001407985.1:c.785-445G>A
  • NM_001407986.1:c.785-445G>A
  • NM_001407990.1:c.788-445G>A
  • NM_001407991.1:c.785-445G>A
  • NM_001407992.1:c.785-445G>A
  • NM_001407993.1:c.788-445G>A
  • NM_001408392.1:c.785-445G>A
  • NM_001408396.1:c.785-445G>A
  • NM_001408397.1:c.785-445G>A
  • NM_001408398.1:c.785-445G>A
  • NM_001408399.1:c.785-445G>A
  • NM_001408400.1:c.785-445G>A
  • NM_001408401.1:c.785-445G>A
  • NM_001408402.1:c.785-445G>A
  • NM_001408403.1:c.788-445G>A
  • NM_001408404.1:c.788-445G>A
  • NM_001408406.1:c.791-454G>A
  • NM_001408407.1:c.785-445G>A
  • NM_001408408.1:c.779-445G>A
  • NM_001408409.1:c.710-445G>A
  • NM_001408410.1:c.647-445G>A
  • NM_001408411.1:c.710-445G>A
  • NM_001408412.1:c.710-445G>A
  • NM_001408413.1:c.707-445G>A
  • NM_001408414.1:c.710-445G>A
  • NM_001408415.1:c.710-445G>A
  • NM_001408416.1:c.707-445G>A
  • NM_001408418.1:c.671-445G>A
  • NM_001408419.1:c.671-445G>A
  • NM_001408420.1:c.671-445G>A
  • NM_001408421.1:c.668-445G>A
  • NM_001408422.1:c.671-445G>A
  • NM_001408423.1:c.671-445G>A
  • NM_001408424.1:c.668-445G>A
  • NM_001408425.1:c.665-445G>A
  • NM_001408426.1:c.665-445G>A
  • NM_001408427.1:c.665-445G>A
  • NM_001408428.1:c.665-445G>A
  • NM_001408429.1:c.665-445G>A
  • NM_001408430.1:c.665-445G>A
  • NM_001408431.1:c.668-445G>A
  • NM_001408432.1:c.662-445G>A
  • NM_001408433.1:c.662-445G>A
  • NM_001408434.1:c.662-445G>A
  • NM_001408435.1:c.662-445G>A
  • NM_001408436.1:c.665-445G>A
  • NM_001408437.1:c.665-445G>A
  • NM_001408438.1:c.665-445G>A
  • NM_001408439.1:c.665-445G>A
  • NM_001408440.1:c.665-445G>A
  • NM_001408441.1:c.665-445G>A
  • NM_001408442.1:c.665-445G>A
  • NM_001408443.1:c.665-445G>A
  • NM_001408444.1:c.665-445G>A
  • NM_001408445.1:c.662-445G>A
  • NM_001408446.1:c.662-445G>A
  • NM_001408447.1:c.662-445G>A
  • NM_001408448.1:c.662-445G>A
  • NM_001408450.1:c.662-445G>A
  • NM_001408451.1:c.653-445G>A
  • NM_001408452.1:c.647-445G>A
  • NM_001408453.1:c.647-445G>A
  • NM_001408454.1:c.647-445G>A
  • NM_001408455.1:c.647-445G>A
  • NM_001408456.1:c.647-445G>A
  • NM_001408457.1:c.647-445G>A
  • NM_001408458.1:c.647-445G>A
  • NM_001408459.1:c.647-445G>A
  • NM_001408460.1:c.647-445G>A
  • NM_001408461.1:c.647-445G>A
  • NM_001408462.1:c.644-445G>A
  • NM_001408463.1:c.644-445G>A
  • NM_001408464.1:c.644-445G>A
  • NM_001408465.1:c.644-445G>A
  • NM_001408466.1:c.647-445G>A
  • NM_001408467.1:c.647-445G>A
  • NM_001408468.1:c.644-445G>A
  • NM_001408469.1:c.647-445G>A
  • NM_001408470.1:c.644-445G>A
  • NM_001408472.1:c.788-445G>A
  • NM_001408473.1:c.785-445G>A
  • NM_001408474.1:c.587-445G>A
  • NM_001408475.1:c.584-445G>A
  • NM_001408476.1:c.587-445G>A
  • NM_001408478.1:c.578-445G>A
  • NM_001408479.1:c.578-445G>A
  • NM_001408480.1:c.578-445G>A
  • NM_001408481.1:c.578-445G>A
  • NM_001408482.1:c.578-445G>A
  • NM_001408483.1:c.578-445G>A
  • NM_001408484.1:c.578-445G>A
  • NM_001408485.1:c.578-445G>A
  • NM_001408489.1:c.578-445G>A
  • NM_001408490.1:c.575-445G>A
  • NM_001408491.1:c.575-445G>A
  • NM_001408492.1:c.578-445G>A
  • NM_001408493.1:c.575-445G>A
  • NM_001408494.1:c.548-445G>A
  • NM_001408495.1:c.545-445G>A
  • NM_001408496.1:c.524-445G>A
  • NM_001408497.1:c.524-445G>A
  • NM_001408498.1:c.524-445G>A
  • NM_001408499.1:c.524-445G>A
  • NM_001408500.1:c.524-445G>A
  • NM_001408501.1:c.524-445G>A
  • NM_001408502.1:c.455-445G>A
  • NM_001408503.1:c.521-445G>A
  • NM_001408504.1:c.521-445G>A
  • NM_001408505.1:c.521-445G>A
  • NM_001408506.1:c.461-445G>A
  • NM_001408507.1:c.461-445G>A
  • NM_001408508.1:c.452-445G>A
  • NM_001408509.1:c.452-445G>A
  • NM_001408510.1:c.407-445G>A
  • NM_001408511.1:c.404-445G>A
  • NM_001408512.1:c.284-445G>A
  • NM_001408513.1:c.578-445G>A
  • NM_001408514.1:c.578-445G>A
  • NM_007294.4:c.4054G>AMANE SELECT
  • NM_007297.4:c.3913G>A
  • NM_007298.4:c.788-445G>A
  • NM_007299.4:c.788-445G>A
  • NM_007300.4:c.4054G>A
  • NP_001394500.1:p.Glu1281Lys
  • NP_001394510.1:p.Glu1352Lys
  • NP_001394511.1:p.Glu1352Lys
  • NP_001394512.1:p.Glu1352Lys
  • NP_001394514.1:p.Glu1352Lys
  • NP_001394516.1:p.Glu1351Lys
  • NP_001394519.1:p.Glu1351Lys
  • NP_001394520.1:p.Glu1351Lys
  • NP_001394522.1:p.Glu1352Lys
  • NP_001394523.1:p.Glu1352Lys
  • NP_001394525.1:p.Glu1352Lys
  • NP_001394526.1:p.Glu1352Lys
  • NP_001394527.1:p.Glu1352Lys
  • NP_001394531.1:p.Glu1352Lys
  • NP_001394532.1:p.Glu1352Lys
  • NP_001394534.1:p.Glu1352Lys
  • NP_001394539.1:p.Glu1351Lys
  • NP_001394540.1:p.Glu1351Lys
  • NP_001394541.1:p.Glu1351Lys
  • NP_001394542.1:p.Glu1351Lys
  • NP_001394543.1:p.Glu1351Lys
  • NP_001394544.1:p.Glu1351Lys
  • NP_001394545.1:p.Glu1352Lys
  • NP_001394546.1:p.Glu1352Lys
  • NP_001394547.1:p.Glu1352Lys
  • NP_001394548.1:p.Glu1352Lys
  • NP_001394549.1:p.Glu1352Lys
  • NP_001394550.1:p.Glu1352Lys
  • NP_001394551.1:p.Glu1352Lys
  • NP_001394552.1:p.Glu1352Lys
  • NP_001394553.1:p.Glu1352Lys
  • NP_001394554.1:p.Glu1352Lys
  • NP_001394555.1:p.Glu1352Lys
  • NP_001394556.1:p.Glu1351Lys
  • NP_001394557.1:p.Glu1351Lys
  • NP_001394558.1:p.Glu1351Lys
  • NP_001394559.1:p.Glu1351Lys
  • NP_001394560.1:p.Glu1351Lys
  • NP_001394561.1:p.Glu1351Lys
  • NP_001394562.1:p.Glu1351Lys
  • NP_001394563.1:p.Glu1351Lys
  • NP_001394564.1:p.Glu1351Lys
  • NP_001394565.1:p.Glu1351Lys
  • NP_001394566.1:p.Glu1351Lys
  • NP_001394567.1:p.Glu1351Lys
  • NP_001394568.1:p.Glu1352Lys
  • NP_001394569.1:p.Glu1352Lys
  • NP_001394570.1:p.Glu1352Lys
  • NP_001394571.1:p.Glu1352Lys
  • NP_001394573.1:p.Glu1351Lys
  • NP_001394574.1:p.Glu1351Lys
  • NP_001394575.1:p.Glu1349Lys
  • NP_001394576.1:p.Glu1349Lys
  • NP_001394577.1:p.Glu1311Lys
  • NP_001394578.1:p.Glu1310Lys
  • NP_001394581.1:p.Glu1352Lys
  • NP_001394582.1:p.Glu1326Lys
  • NP_001394583.1:p.Glu1326Lys
  • NP_001394584.1:p.Glu1326Lys
  • NP_001394585.1:p.Glu1326Lys
  • NP_001394586.1:p.Glu1326Lys
  • NP_001394587.1:p.Glu1326Lys
  • NP_001394588.1:p.Glu1325Lys
  • NP_001394589.1:p.Glu1325Lys
  • NP_001394590.1:p.Glu1325Lys
  • NP_001394591.1:p.Glu1325Lys
  • NP_001394592.1:p.Glu1326Lys
  • NP_001394593.1:p.Glu1311Lys
  • NP_001394594.1:p.Glu1311Lys
  • NP_001394595.1:p.Glu1311Lys
  • NP_001394596.1:p.Glu1311Lys
  • NP_001394597.1:p.Glu1311Lys
  • NP_001394598.1:p.Glu1311Lys
  • NP_001394599.1:p.Glu1310Lys
  • NP_001394600.1:p.Glu1310Lys
  • NP_001394601.1:p.Glu1310Lys
  • NP_001394602.1:p.Glu1310Lys
  • NP_001394603.1:p.Glu1311Lys
  • NP_001394604.1:p.Glu1311Lys
  • NP_001394605.1:p.Glu1311Lys
  • NP_001394606.1:p.Glu1311Lys
  • NP_001394607.1:p.Glu1311Lys
  • NP_001394608.1:p.Glu1311Lys
  • NP_001394609.1:p.Glu1311Lys
  • NP_001394610.1:p.Glu1311Lys
  • NP_001394611.1:p.Glu1311Lys
  • NP_001394612.1:p.Glu1311Lys
  • NP_001394613.1:p.Glu1352Lys
  • NP_001394614.1:p.Glu1310Lys
  • NP_001394615.1:p.Glu1310Lys
  • NP_001394616.1:p.Glu1310Lys
  • NP_001394617.1:p.Glu1310Lys
  • NP_001394618.1:p.Glu1310Lys
  • NP_001394619.1:p.Glu1310Lys
  • NP_001394620.1:p.Glu1310Lys
  • NP_001394621.1:p.Glu1305Lys
  • NP_001394623.1:p.Glu1305Lys
  • NP_001394624.1:p.Glu1305Lys
  • NP_001394625.1:p.Glu1305Lys
  • NP_001394626.1:p.Glu1305Lys
  • NP_001394627.1:p.Glu1305Lys
  • NP_001394653.1:p.Glu1305Lys
  • NP_001394654.1:p.Glu1305Lys
  • NP_001394655.1:p.Glu1305Lys
  • NP_001394656.1:p.Glu1305Lys
  • NP_001394657.1:p.Glu1305Lys
  • NP_001394658.1:p.Glu1305Lys
  • NP_001394659.1:p.Glu1305Lys
  • NP_001394660.1:p.Glu1305Lys
  • NP_001394661.1:p.Glu1305Lys
  • NP_001394662.1:p.Glu1305Lys
  • NP_001394663.1:p.Glu1305Lys
  • NP_001394664.1:p.Glu1305Lys
  • NP_001394665.1:p.Glu1305Lys
  • NP_001394666.1:p.Glu1305Lys
  • NP_001394667.1:p.Glu1305Lys
  • NP_001394668.1:p.Glu1305Lys
  • NP_001394669.1:p.Glu1304Lys
  • NP_001394670.1:p.Glu1304Lys
  • NP_001394671.1:p.Glu1304Lys
  • NP_001394672.1:p.Glu1304Lys
  • NP_001394673.1:p.Glu1304Lys
  • NP_001394674.1:p.Glu1304Lys
  • NP_001394675.1:p.Glu1304Lys
  • NP_001394676.1:p.Glu1304Lys
  • NP_001394677.1:p.Glu1304Lys
  • NP_001394678.1:p.Glu1304Lys
  • NP_001394679.1:p.Glu1305Lys
  • NP_001394680.1:p.Glu1305Lys
  • NP_001394681.1:p.Glu1305Lys
  • NP_001394767.1:p.Glu1304Lys
  • NP_001394768.1:p.Glu1304Lys
  • NP_001394770.1:p.Glu1304Lys
  • NP_001394771.1:p.Glu1304Lys
  • NP_001394772.1:p.Glu1304Lys
  • NP_001394773.1:p.Glu1304Lys
  • NP_001394774.1:p.Glu1304Lys
  • NP_001394775.1:p.Glu1304Lys
  • NP_001394776.1:p.Glu1304Lys
  • NP_001394777.1:p.Glu1304Lys
  • NP_001394778.1:p.Glu1304Lys
  • NP_001394779.1:p.Glu1305Lys
  • NP_001394780.1:p.Glu1305Lys
  • NP_001394781.1:p.Glu1305Lys
  • NP_001394782.1:p.Glu1281Lys
  • NP_001394783.1:p.Glu1352Lys
  • NP_001394787.1:p.Glu1352Lys
  • NP_001394788.1:p.Glu1352Lys
  • NP_001394789.1:p.Glu1351Lys
  • NP_001394790.1:p.Glu1351Lys
  • NP_001394791.1:p.Glu1285Lys
  • NP_001394792.1:p.Glu1311Lys
  • NP_001394803.1:p.Glu1284Lys
  • NP_001394804.1:p.Glu1284Lys
  • NP_001394808.1:p.Glu1282Lys
  • NP_001394810.1:p.Glu1282Lys
  • NP_001394811.1:p.Glu1282Lys
  • NP_001394813.1:p.Glu1282Lys
  • NP_001394814.1:p.Glu1282Lys
  • NP_001394815.1:p.Glu1282Lys
  • NP_001394816.1:p.Glu1282Lys
  • NP_001394818.1:p.Glu1282Lys
  • NP_001394823.1:p.Glu1281Lys
  • NP_001394824.1:p.Glu1281Lys
  • NP_001394825.1:p.Glu1281Lys
  • NP_001394826.1:p.Glu1281Lys
  • NP_001394827.1:p.Glu1281Lys
  • NP_001394828.1:p.Glu1281Lys
  • NP_001394829.1:p.Glu1282Lys
  • NP_001394831.1:p.Glu1282Lys
  • NP_001394833.1:p.Glu1282Lys
  • NP_001394835.1:p.Glu1282Lys
  • NP_001394836.1:p.Glu1282Lys
  • NP_001394837.1:p.Glu1282Lys
  • NP_001394838.1:p.Glu1282Lys
  • NP_001394839.1:p.Glu1282Lys
  • NP_001394844.1:p.Glu1281Lys
  • NP_001394845.1:p.Glu1281Lys
  • NP_001394846.1:p.Glu1281Lys
  • NP_001394847.1:p.Glu1281Lys
  • NP_001394848.1:p.Glu1311Lys
  • NP_001394849.1:p.Glu1264Lys
  • NP_001394850.1:p.Glu1264Lys
  • NP_001394851.1:p.Glu1264Lys
  • NP_001394852.1:p.Glu1264Lys
  • NP_001394853.1:p.Glu1264Lys
  • NP_001394854.1:p.Glu1264Lys
  • NP_001394855.1:p.Glu1264Lys
  • NP_001394856.1:p.Glu1264Lys
  • NP_001394857.1:p.Glu1264Lys
  • NP_001394858.1:p.Glu1264Lys
  • NP_001394859.1:p.Glu1263Lys
  • NP_001394860.1:p.Glu1263Lys
  • NP_001394861.1:p.Glu1263Lys
  • NP_001394862.1:p.Glu1264Lys
  • NP_001394863.1:p.Glu1263Lys
  • NP_001394864.1:p.Glu1264Lys
  • NP_001394865.1:p.Glu1263Lys
  • NP_001394866.1:p.Glu1311Lys
  • NP_001394867.1:p.Glu1311Lys
  • NP_001394868.1:p.Glu1311Lys
  • NP_001394869.1:p.Glu1310Lys
  • NP_001394870.1:p.Glu1310Lys
  • NP_001394871.1:p.Glu1305Lys
  • NP_001394872.1:p.Glu1304Lys
  • NP_001394873.1:p.Glu1305Lys
  • NP_001394874.1:p.Glu1305Lys
  • NP_001394875.1:p.Glu1241Lys
  • NP_001394876.1:p.Glu1241Lys
  • NP_001394877.1:p.Glu1241Lys
  • NP_001394878.1:p.Glu1241Lys
  • NP_001394879.1:p.Glu1241Lys
  • NP_001394880.1:p.Glu1241Lys
  • NP_001394881.1:p.Glu1241Lys
  • NP_001394882.1:p.Glu1241Lys
  • NP_001394883.1:p.Glu1240Lys
  • NP_001394884.1:p.Glu1240Lys
  • NP_001394885.1:p.Glu1240Lys
  • NP_001394886.1:p.Glu1241Lys
  • NP_001394887.1:p.Glu1240Lys
  • NP_001394888.1:p.Glu1225Lys
  • NP_001394889.1:p.Glu1225Lys
  • NP_001394891.1:p.Glu1224Lys
  • NP_001394892.1:p.Glu1225Lys
  • NP_001394893.1:p.Glu1304Lys
  • NP_001394894.1:p.Glu1184Lys
  • NP_001394895.1:p.Glu1056Lys
  • NP_001394896.1:p.Glu1056Lys
  • NP_001394897.1:p.Glu484Lys
  • NP_001394898.1:p.Glu484Lys
  • NP_009225.1:p.Glu1352Lys
  • NP_009225.1:p.Glu1352Lys
  • NP_009228.2:p.Glu1305Lys
  • NP_009231.2:p.Glu1352Lys
  • LRG_292t1:c.4054G>A
  • LRG_292:g.126507G>A
  • LRG_292p1:p.Glu1352Lys
  • NC_000017.10:g.41243494C>T
  • NM_007294.3:c.4054G>A
  • NR_027676.1:n.4190G>A
  • U14680.1:n.4173G>A
  • p.E1352K
Protein change:
E1056K
Links:
dbSNP: rs80357202
NCBI 1000 Genomes Browser:
rs80357202
Molecular consequence:
  • NM_001407970.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-454G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3853G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3850G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3850G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3718G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3718G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3718G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3718G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3670G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3166G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3166G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001546067Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 29, 2023) 		germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

Tram E, Savas S, Ozcelik H.

PLoS One. 2013 May 21;8(5):e62468. doi: 10.1371/journal.pone.0062468. Print 2013.

PubMed [citation]
PMID:
23704879
PMCID:
PMC3660339

Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays.

Bouwman P, van der Heijden I, van der Gulden H, de Bruijn R, Braspenning ME, Moghadasi S, Wessels LFA; Dutch-Belgian VUS workgroup., Vreeswijk MPG, Jonkers J.

Clin Cancer Res. 2020 Sep 1;26(17):4559-4568. doi: 10.1158/1078-0432.CCR-20-0255. Epub 2020 Jun 16. Erratum in: Clin Cancer Res. 2022 Oct 14;28(20):4588. doi: 10.1158/1078-0432.CCR-22-2662.

PubMed [citation]
PMID:
32546644
See all PubMed Citations (9)

Details of each submission

From Invitae, SCV001546067.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1352 of the BRCA1 protein (p.Glu1352Lys). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 23704879, 32546644). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 55089). This missense change has been observed in individual(s) with hereditary breast and/or ovarian cancer (PMID: 17216544, 27062684, 30254663, 32438681, 32854451, 34178674). This variant is present in population databases (rs80357202, gnomAD 0.005%).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024