NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Benign (3 submissions)
Last evaluated:: Aug 10, 2015
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000112244.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu)]

NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu)

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.4081A>C (p.Met1361Leu)

Other names:

4200A>C

HGVS:

NC_000017.11:g.43091450T>G
NG_005905.2:g.126534A>C
NG_087068.1:g.432T>G
NM_001407571.1:c.3868A>C
NM_001407581.1:c.4081A>C
NM_001407582.1:c.4081A>C
NM_001407583.1:c.4081A>C
NM_001407585.1:c.4081A>C
NM_001407587.1:c.4078A>C
NM_001407590.1:c.4078A>C
NM_001407591.1:c.4078A>C
NM_001407593.1:c.4081A>C
NM_001407594.1:c.4081A>C
NM_001407596.1:c.4081A>C
NM_001407597.1:c.4081A>C
NM_001407598.1:c.4081A>C
NM_001407602.1:c.4081A>C
NM_001407603.1:c.4081A>C
NM_001407605.1:c.4081A>C
NM_001407610.1:c.4078A>C
NM_001407611.1:c.4078A>C
NM_001407612.1:c.4078A>C
NM_001407613.1:c.4078A>C
NM_001407614.1:c.4078A>C
NM_001407615.1:c.4078A>C
NM_001407616.1:c.4081A>C
NM_001407617.1:c.4081A>C
NM_001407618.1:c.4081A>C
NM_001407619.1:c.4081A>C
NM_001407620.1:c.4081A>C
NM_001407621.1:c.4081A>C
NM_001407622.1:c.4081A>C
NM_001407623.1:c.4081A>C
NM_001407624.1:c.4081A>C
NM_001407625.1:c.4081A>C
NM_001407626.1:c.4081A>C
NM_001407627.1:c.4078A>C
NM_001407628.1:c.4078A>C
NM_001407629.1:c.4078A>C
NM_001407630.1:c.4078A>C
NM_001407631.1:c.4078A>C
NM_001407632.1:c.4078A>C
NM_001407633.1:c.4078A>C
NM_001407634.1:c.4078A>C
NM_001407635.1:c.4078A>C
NM_001407636.1:c.4078A>C
NM_001407637.1:c.4078A>C
NM_001407638.1:c.4078A>C
NM_001407639.1:c.4081A>C
NM_001407640.1:c.4081A>C
NM_001407641.1:c.4081A>C
NM_001407642.1:c.4081A>C
NM_001407644.1:c.4078A>C
NM_001407645.1:c.4078A>C
NM_001407646.1:c.4072A>C
NM_001407647.1:c.4072A>C
NM_001407648.1:c.3958A>C
NM_001407649.1:c.3955A>C
NM_001407652.1:c.4081A>C
NM_001407653.1:c.4003A>C
NM_001407654.1:c.4003A>C
NM_001407655.1:c.4003A>C
NM_001407656.1:c.4003A>C
NM_001407657.1:c.4003A>C
NM_001407658.1:c.4003A>C
NM_001407659.1:c.4000A>C
NM_001407660.1:c.4000A>C
NM_001407661.1:c.4000A>C
NM_001407662.1:c.4000A>C
NM_001407663.1:c.4003A>C
NM_001407664.1:c.3958A>C
NM_001407665.1:c.3958A>C
NM_001407666.1:c.3958A>C
NM_001407667.1:c.3958A>C
NM_001407668.1:c.3958A>C
NM_001407669.1:c.3958A>C
NM_001407670.1:c.3955A>C
NM_001407671.1:c.3955A>C
NM_001407672.1:c.3955A>C
NM_001407673.1:c.3955A>C
NM_001407674.1:c.3958A>C
NM_001407675.1:c.3958A>C
NM_001407676.1:c.3958A>C
NM_001407677.1:c.3958A>C
NM_001407678.1:c.3958A>C
NM_001407679.1:c.3958A>C
NM_001407680.1:c.3958A>C
NM_001407681.1:c.3958A>C
NM_001407682.1:c.3958A>C
NM_001407683.1:c.3958A>C
NM_001407684.1:c.4081A>C
NM_001407685.1:c.3955A>C
NM_001407686.1:c.3955A>C
NM_001407687.1:c.3955A>C
NM_001407688.1:c.3955A>C
NM_001407689.1:c.3955A>C
NM_001407690.1:c.3955A>C
NM_001407691.1:c.3955A>C
NM_001407692.1:c.3940A>C
NM_001407694.1:c.3940A>C
NM_001407695.1:c.3940A>C
NM_001407696.1:c.3940A>C
NM_001407697.1:c.3940A>C
NM_001407698.1:c.3940A>C
NM_001407724.1:c.3940A>C
NM_001407725.1:c.3940A>C
NM_001407726.1:c.3940A>C
NM_001407727.1:c.3940A>C
NM_001407728.1:c.3940A>C
NM_001407729.1:c.3940A>C
NM_001407730.1:c.3940A>C
NM_001407731.1:c.3940A>C
NM_001407732.1:c.3940A>C
NM_001407733.1:c.3940A>C
NM_001407734.1:c.3940A>C
NM_001407735.1:c.3940A>C
NM_001407736.1:c.3940A>C
NM_001407737.1:c.3940A>C
NM_001407738.1:c.3940A>C
NM_001407739.1:c.3940A>C
NM_001407740.1:c.3937A>C
NM_001407741.1:c.3937A>C
NM_001407742.1:c.3937A>C
NM_001407743.1:c.3937A>C
NM_001407744.1:c.3937A>C
NM_001407745.1:c.3937A>C
NM_001407746.1:c.3937A>C
NM_001407747.1:c.3937A>C
NM_001407748.1:c.3937A>C
NM_001407749.1:c.3937A>C
NM_001407750.1:c.3940A>C
NM_001407751.1:c.3940A>C
NM_001407752.1:c.3940A>C
NM_001407838.1:c.3937A>C
NM_001407839.1:c.3937A>C
NM_001407841.1:c.3937A>C
NM_001407842.1:c.3937A>C
NM_001407843.1:c.3937A>C
NM_001407844.1:c.3937A>C
NM_001407845.1:c.3937A>C
NM_001407846.1:c.3937A>C
NM_001407847.1:c.3937A>C
NM_001407848.1:c.3937A>C
NM_001407849.1:c.3937A>C
NM_001407850.1:c.3940A>C
NM_001407851.1:c.3940A>C
NM_001407852.1:c.3940A>C
NM_001407853.1:c.3868A>C
NM_001407854.1:c.4081A>C
NM_001407858.1:c.4081A>C
NM_001407859.1:c.4081A>C
NM_001407860.1:c.4078A>C
NM_001407861.1:c.4078A>C
NM_001407862.1:c.3880A>C
NM_001407863.1:c.3958A>C
NM_001407874.1:c.3877A>C
NM_001407875.1:c.3877A>C
NM_001407879.1:c.3871A>C
NM_001407881.1:c.3871A>C
NM_001407882.1:c.3871A>C
NM_001407884.1:c.3871A>C
NM_001407885.1:c.3871A>C
NM_001407886.1:c.3871A>C
NM_001407887.1:c.3871A>C
NM_001407889.1:c.3871A>C
NM_001407894.1:c.3868A>C
NM_001407895.1:c.3868A>C
NM_001407896.1:c.3868A>C
NM_001407897.1:c.3868A>C
NM_001407898.1:c.3868A>C
NM_001407899.1:c.3868A>C
NM_001407900.1:c.3871A>C
NM_001407902.1:c.3871A>C
NM_001407904.1:c.3871A>C
NM_001407906.1:c.3871A>C
NM_001407907.1:c.3871A>C
NM_001407908.1:c.3871A>C
NM_001407909.1:c.3871A>C
NM_001407910.1:c.3871A>C
NM_001407915.1:c.3868A>C
NM_001407916.1:c.3868A>C
NM_001407917.1:c.3868A>C
NM_001407918.1:c.3868A>C
NM_001407919.1:c.3958A>C
NM_001407920.1:c.3817A>C
NM_001407921.1:c.3817A>C
NM_001407922.1:c.3817A>C
NM_001407923.1:c.3817A>C
NM_001407924.1:c.3817A>C
NM_001407925.1:c.3817A>C
NM_001407926.1:c.3817A>C
NM_001407927.1:c.3817A>C
NM_001407928.1:c.3817A>C
NM_001407929.1:c.3817A>C
NM_001407930.1:c.3814A>C
NM_001407931.1:c.3814A>C
NM_001407932.1:c.3814A>C
NM_001407933.1:c.3817A>C
NM_001407934.1:c.3814A>C
NM_001407935.1:c.3817A>C
NM_001407936.1:c.3814A>C
NM_001407937.1:c.3958A>C
NM_001407938.1:c.3958A>C
NM_001407939.1:c.3958A>C
NM_001407940.1:c.3955A>C
NM_001407941.1:c.3955A>C
NM_001407942.1:c.3940A>C
NM_001407943.1:c.3937A>C
NM_001407944.1:c.3940A>C
NM_001407945.1:c.3940A>C
NM_001407946.1:c.3748A>C
NM_001407947.1:c.3748A>C
NM_001407948.1:c.3748A>C
NM_001407949.1:c.3748A>C
NM_001407950.1:c.3748A>C
NM_001407951.1:c.3748A>C
NM_001407952.1:c.3748A>C
NM_001407953.1:c.3748A>C
NM_001407954.1:c.3745A>C
NM_001407955.1:c.3745A>C
NM_001407956.1:c.3745A>C
NM_001407957.1:c.3748A>C
NM_001407958.1:c.3745A>C
NM_001407959.1:c.3700A>C
NM_001407960.1:c.3700A>C
NM_001407962.1:c.3697A>C
NM_001407963.1:c.3700A>C
NM_001407964.1:c.3937A>C
NM_001407965.1:c.3577A>C
NM_001407966.1:c.3193A>C
NM_001407967.1:c.3193A>C
NM_001407968.1:c.1477A>C
NM_001407969.1:c.1477A>C
NM_001407970.1:c.788-418A>C
NM_001407971.1:c.788-418A>C
NM_001407972.1:c.785-418A>C
NM_001407973.1:c.788-418A>C
NM_001407974.1:c.788-418A>C
NM_001407975.1:c.788-418A>C
NM_001407976.1:c.788-418A>C
NM_001407977.1:c.788-418A>C
NM_001407978.1:c.788-418A>C
NM_001407979.1:c.788-418A>C
NM_001407980.1:c.788-418A>C
NM_001407981.1:c.788-418A>C
NM_001407982.1:c.788-418A>C
NM_001407983.1:c.788-418A>C
NM_001407984.1:c.785-418A>C
NM_001407985.1:c.785-418A>C
NM_001407986.1:c.785-418A>C
NM_001407990.1:c.788-418A>C
NM_001407991.1:c.785-418A>C
NM_001407992.1:c.785-418A>C
NM_001407993.1:c.788-418A>C
NM_001408392.1:c.785-418A>C
NM_001408396.1:c.785-418A>C
NM_001408397.1:c.785-418A>C
NM_001408398.1:c.785-418A>C
NM_001408399.1:c.785-418A>C
NM_001408400.1:c.785-418A>C
NM_001408401.1:c.785-418A>C
NM_001408402.1:c.785-418A>C
NM_001408403.1:c.788-418A>C
NM_001408404.1:c.788-418A>C
NM_001408406.1:c.791-427A>C
NM_001408407.1:c.785-418A>C
NM_001408408.1:c.779-418A>C
NM_001408409.1:c.710-418A>C
NM_001408410.1:c.647-418A>C
NM_001408411.1:c.710-418A>C
NM_001408412.1:c.710-418A>C
NM_001408413.1:c.707-418A>C
NM_001408414.1:c.710-418A>C
NM_001408415.1:c.710-418A>C
NM_001408416.1:c.707-418A>C
NM_001408418.1:c.671-418A>C
NM_001408419.1:c.671-418A>C
NM_001408420.1:c.671-418A>C
NM_001408421.1:c.668-418A>C
NM_001408422.1:c.671-418A>C
NM_001408423.1:c.671-418A>C
NM_001408424.1:c.668-418A>C
NM_001408425.1:c.665-418A>C
NM_001408426.1:c.665-418A>C
NM_001408427.1:c.665-418A>C
NM_001408428.1:c.665-418A>C
NM_001408429.1:c.665-418A>C
NM_001408430.1:c.665-418A>C
NM_001408431.1:c.668-418A>C
NM_001408432.1:c.662-418A>C
NM_001408433.1:c.662-418A>C
NM_001408434.1:c.662-418A>C
NM_001408435.1:c.662-418A>C
NM_001408436.1:c.665-418A>C
NM_001408437.1:c.665-418A>C
NM_001408438.1:c.665-418A>C
NM_001408439.1:c.665-418A>C
NM_001408440.1:c.665-418A>C
NM_001408441.1:c.665-418A>C
NM_001408442.1:c.665-418A>C
NM_001408443.1:c.665-418A>C
NM_001408444.1:c.665-418A>C
NM_001408445.1:c.662-418A>C
NM_001408446.1:c.662-418A>C
NM_001408447.1:c.662-418A>C
NM_001408448.1:c.662-418A>C
NM_001408450.1:c.662-418A>C
NM_001408451.1:c.653-418A>C
NM_001408452.1:c.647-418A>C
NM_001408453.1:c.647-418A>C
NM_001408454.1:c.647-418A>C
NM_001408455.1:c.647-418A>C
NM_001408456.1:c.647-418A>C
NM_001408457.1:c.647-418A>C
NM_001408458.1:c.647-418A>C
NM_001408459.1:c.647-418A>C
NM_001408460.1:c.647-418A>C
NM_001408461.1:c.647-418A>C
NM_001408462.1:c.644-418A>C
NM_001408463.1:c.644-418A>C
NM_001408464.1:c.644-418A>C
NM_001408465.1:c.644-418A>C
NM_001408466.1:c.647-418A>C
NM_001408467.1:c.647-418A>C
NM_001408468.1:c.644-418A>C
NM_001408469.1:c.647-418A>C
NM_001408470.1:c.644-418A>C
NM_001408472.1:c.788-418A>C
NM_001408473.1:c.785-418A>C
NM_001408474.1:c.587-418A>C
NM_001408475.1:c.584-418A>C
NM_001408476.1:c.587-418A>C
NM_001408478.1:c.578-418A>C
NM_001408479.1:c.578-418A>C
NM_001408480.1:c.578-418A>C
NM_001408481.1:c.578-418A>C
NM_001408482.1:c.578-418A>C
NM_001408483.1:c.578-418A>C
NM_001408484.1:c.578-418A>C
NM_001408485.1:c.578-418A>C
NM_001408489.1:c.578-418A>C
NM_001408490.1:c.575-418A>C
NM_001408491.1:c.575-418A>C
NM_001408492.1:c.578-418A>C
NM_001408493.1:c.575-418A>C
NM_001408494.1:c.548-418A>C
NM_001408495.1:c.545-418A>C
NM_001408496.1:c.524-418A>C
NM_001408497.1:c.524-418A>C
NM_001408498.1:c.524-418A>C
NM_001408499.1:c.524-418A>C
NM_001408500.1:c.524-418A>C
NM_001408501.1:c.524-418A>C
NM_001408502.1:c.455-418A>C
NM_001408503.1:c.521-418A>C
NM_001408504.1:c.521-418A>C
NM_001408505.1:c.521-418A>C
NM_001408506.1:c.461-418A>C
NM_001408507.1:c.461-418A>C
NM_001408508.1:c.452-418A>C
NM_001408509.1:c.452-418A>C
NM_001408510.1:c.407-418A>C
NM_001408511.1:c.404-418A>C
NM_001408512.1:c.284-418A>C
NM_001408513.1:c.578-418A>C
NM_001408514.1:c.578-418A>C
NM_007294.4:c.4081A>CMANE SELECT
NM_007297.4:c.3940A>C
NM_007298.4:c.788-418A>C
NM_007299.4:c.788-418A>C
NM_007300.4:c.4081A>C
NP_001394500.1:p.Met1290Leu
NP_001394510.1:p.Met1361Leu
NP_001394511.1:p.Met1361Leu
NP_001394512.1:p.Met1361Leu
NP_001394514.1:p.Met1361Leu
NP_001394516.1:p.Met1360Leu
NP_001394519.1:p.Met1360Leu
NP_001394520.1:p.Met1360Leu
NP_001394522.1:p.Met1361Leu
NP_001394523.1:p.Met1361Leu
NP_001394525.1:p.Met1361Leu
NP_001394526.1:p.Met1361Leu
NP_001394527.1:p.Met1361Leu
NP_001394531.1:p.Met1361Leu
NP_001394532.1:p.Met1361Leu
NP_001394534.1:p.Met1361Leu
NP_001394539.1:p.Met1360Leu
NP_001394540.1:p.Met1360Leu
NP_001394541.1:p.Met1360Leu
NP_001394542.1:p.Met1360Leu
NP_001394543.1:p.Met1360Leu
NP_001394544.1:p.Met1360Leu
NP_001394545.1:p.Met1361Leu
NP_001394546.1:p.Met1361Leu
NP_001394547.1:p.Met1361Leu
NP_001394548.1:p.Met1361Leu
NP_001394549.1:p.Met1361Leu
NP_001394550.1:p.Met1361Leu
NP_001394551.1:p.Met1361Leu
NP_001394552.1:p.Met1361Leu
NP_001394553.1:p.Met1361Leu
NP_001394554.1:p.Met1361Leu
NP_001394555.1:p.Met1361Leu
NP_001394556.1:p.Met1360Leu
NP_001394557.1:p.Met1360Leu
NP_001394558.1:p.Met1360Leu
NP_001394559.1:p.Met1360Leu
NP_001394560.1:p.Met1360Leu
NP_001394561.1:p.Met1360Leu
NP_001394562.1:p.Met1360Leu
NP_001394563.1:p.Met1360Leu
NP_001394564.1:p.Met1360Leu
NP_001394565.1:p.Met1360Leu
NP_001394566.1:p.Met1360Leu
NP_001394567.1:p.Met1360Leu
NP_001394568.1:p.Met1361Leu
NP_001394569.1:p.Met1361Leu
NP_001394570.1:p.Met1361Leu
NP_001394571.1:p.Met1361Leu
NP_001394573.1:p.Met1360Leu
NP_001394574.1:p.Met1360Leu
NP_001394575.1:p.Met1358Leu
NP_001394576.1:p.Met1358Leu
NP_001394577.1:p.Met1320Leu
NP_001394578.1:p.Met1319Leu
NP_001394581.1:p.Met1361Leu
NP_001394582.1:p.Met1335Leu
NP_001394583.1:p.Met1335Leu
NP_001394584.1:p.Met1335Leu
NP_001394585.1:p.Met1335Leu
NP_001394586.1:p.Met1335Leu
NP_001394587.1:p.Met1335Leu
NP_001394588.1:p.Met1334Leu
NP_001394589.1:p.Met1334Leu
NP_001394590.1:p.Met1334Leu
NP_001394591.1:p.Met1334Leu
NP_001394592.1:p.Met1335Leu
NP_001394593.1:p.Met1320Leu
NP_001394594.1:p.Met1320Leu
NP_001394595.1:p.Met1320Leu
NP_001394596.1:p.Met1320Leu
NP_001394597.1:p.Met1320Leu
NP_001394598.1:p.Met1320Leu
NP_001394599.1:p.Met1319Leu
NP_001394600.1:p.Met1319Leu
NP_001394601.1:p.Met1319Leu
NP_001394602.1:p.Met1319Leu
NP_001394603.1:p.Met1320Leu
NP_001394604.1:p.Met1320Leu
NP_001394605.1:p.Met1320Leu
NP_001394606.1:p.Met1320Leu
NP_001394607.1:p.Met1320Leu
NP_001394608.1:p.Met1320Leu
NP_001394609.1:p.Met1320Leu
NP_001394610.1:p.Met1320Leu
NP_001394611.1:p.Met1320Leu
NP_001394612.1:p.Met1320Leu
NP_001394613.1:p.Met1361Leu
NP_001394614.1:p.Met1319Leu
NP_001394615.1:p.Met1319Leu
NP_001394616.1:p.Met1319Leu
NP_001394617.1:p.Met1319Leu
NP_001394618.1:p.Met1319Leu
NP_001394619.1:p.Met1319Leu
NP_001394620.1:p.Met1319Leu
NP_001394621.1:p.Met1314Leu
NP_001394623.1:p.Met1314Leu
NP_001394624.1:p.Met1314Leu
NP_001394625.1:p.Met1314Leu
NP_001394626.1:p.Met1314Leu
NP_001394627.1:p.Met1314Leu
NP_001394653.1:p.Met1314Leu
NP_001394654.1:p.Met1314Leu
NP_001394655.1:p.Met1314Leu
NP_001394656.1:p.Met1314Leu
NP_001394657.1:p.Met1314Leu
NP_001394658.1:p.Met1314Leu
NP_001394659.1:p.Met1314Leu
NP_001394660.1:p.Met1314Leu
NP_001394661.1:p.Met1314Leu
NP_001394662.1:p.Met1314Leu
NP_001394663.1:p.Met1314Leu
NP_001394664.1:p.Met1314Leu
NP_001394665.1:p.Met1314Leu
NP_001394666.1:p.Met1314Leu
NP_001394667.1:p.Met1314Leu
NP_001394668.1:p.Met1314Leu
NP_001394669.1:p.Met1313Leu
NP_001394670.1:p.Met1313Leu
NP_001394671.1:p.Met1313Leu
NP_001394672.1:p.Met1313Leu
NP_001394673.1:p.Met1313Leu
NP_001394674.1:p.Met1313Leu
NP_001394675.1:p.Met1313Leu
NP_001394676.1:p.Met1313Leu
NP_001394677.1:p.Met1313Leu
NP_001394678.1:p.Met1313Leu
NP_001394679.1:p.Met1314Leu
NP_001394680.1:p.Met1314Leu
NP_001394681.1:p.Met1314Leu
NP_001394767.1:p.Met1313Leu
NP_001394768.1:p.Met1313Leu
NP_001394770.1:p.Met1313Leu
NP_001394771.1:p.Met1313Leu
NP_001394772.1:p.Met1313Leu
NP_001394773.1:p.Met1313Leu
NP_001394774.1:p.Met1313Leu
NP_001394775.1:p.Met1313Leu
NP_001394776.1:p.Met1313Leu
NP_001394777.1:p.Met1313Leu
NP_001394778.1:p.Met1313Leu
NP_001394779.1:p.Met1314Leu
NP_001394780.1:p.Met1314Leu
NP_001394781.1:p.Met1314Leu
NP_001394782.1:p.Met1290Leu
NP_001394783.1:p.Met1361Leu
NP_001394787.1:p.Met1361Leu
NP_001394788.1:p.Met1361Leu
NP_001394789.1:p.Met1360Leu
NP_001394790.1:p.Met1360Leu
NP_001394791.1:p.Met1294Leu
NP_001394792.1:p.Met1320Leu
NP_001394803.1:p.Met1293Leu
NP_001394804.1:p.Met1293Leu
NP_001394808.1:p.Met1291Leu
NP_001394810.1:p.Met1291Leu
NP_001394811.1:p.Met1291Leu
NP_001394813.1:p.Met1291Leu
NP_001394814.1:p.Met1291Leu
NP_001394815.1:p.Met1291Leu
NP_001394816.1:p.Met1291Leu
NP_001394818.1:p.Met1291Leu
NP_001394823.1:p.Met1290Leu
NP_001394824.1:p.Met1290Leu
NP_001394825.1:p.Met1290Leu
NP_001394826.1:p.Met1290Leu
NP_001394827.1:p.Met1290Leu
NP_001394828.1:p.Met1290Leu
NP_001394829.1:p.Met1291Leu
NP_001394831.1:p.Met1291Leu
NP_001394833.1:p.Met1291Leu
NP_001394835.1:p.Met1291Leu
NP_001394836.1:p.Met1291Leu
NP_001394837.1:p.Met1291Leu
NP_001394838.1:p.Met1291Leu
NP_001394839.1:p.Met1291Leu
NP_001394844.1:p.Met1290Leu
NP_001394845.1:p.Met1290Leu
NP_001394846.1:p.Met1290Leu
NP_001394847.1:p.Met1290Leu
NP_001394848.1:p.Met1320Leu
NP_001394849.1:p.Met1273Leu
NP_001394850.1:p.Met1273Leu
NP_001394851.1:p.Met1273Leu
NP_001394852.1:p.Met1273Leu
NP_001394853.1:p.Met1273Leu
NP_001394854.1:p.Met1273Leu
NP_001394855.1:p.Met1273Leu
NP_001394856.1:p.Met1273Leu
NP_001394857.1:p.Met1273Leu
NP_001394858.1:p.Met1273Leu
NP_001394859.1:p.Met1272Leu
NP_001394860.1:p.Met1272Leu
NP_001394861.1:p.Met1272Leu
NP_001394862.1:p.Met1273Leu
NP_001394863.1:p.Met1272Leu
NP_001394864.1:p.Met1273Leu
NP_001394865.1:p.Met1272Leu
NP_001394866.1:p.Met1320Leu
NP_001394867.1:p.Met1320Leu
NP_001394868.1:p.Met1320Leu
NP_001394869.1:p.Met1319Leu
NP_001394870.1:p.Met1319Leu
NP_001394871.1:p.Met1314Leu
NP_001394872.1:p.Met1313Leu
NP_001394873.1:p.Met1314Leu
NP_001394874.1:p.Met1314Leu
NP_001394875.1:p.Met1250Leu
NP_001394876.1:p.Met1250Leu
NP_001394877.1:p.Met1250Leu
NP_001394878.1:p.Met1250Leu
NP_001394879.1:p.Met1250Leu
NP_001394880.1:p.Met1250Leu
NP_001394881.1:p.Met1250Leu
NP_001394882.1:p.Met1250Leu
NP_001394883.1:p.Met1249Leu
NP_001394884.1:p.Met1249Leu
NP_001394885.1:p.Met1249Leu
NP_001394886.1:p.Met1250Leu
NP_001394887.1:p.Met1249Leu
NP_001394888.1:p.Met1234Leu
NP_001394889.1:p.Met1234Leu
NP_001394891.1:p.Met1233Leu
NP_001394892.1:p.Met1234Leu
NP_001394893.1:p.Met1313Leu
NP_001394894.1:p.Met1193Leu
NP_001394895.1:p.Met1065Leu
NP_001394896.1:p.Met1065Leu
NP_001394897.1:p.Met493Leu
NP_001394898.1:p.Met493Leu
NP_009225.1:p.Met1361Leu
NP_009225.1:p.Met1361Leu
NP_009228.2:p.Met1314Leu
NP_009231.2:p.Met1361Leu
LRG_292t1:c.4081A>C
LRG_292:g.126534A>C
LRG_292p1:p.Met1361Leu
NC_000017.10:g.41243467T>G
NM_007294.3:c.4081A>C
NR_027676.1:n.4217A>C
U14680.1:n.4200A>C
p.M1361L

Protein change:

M1065L

Links:

BRCA1-HCI: BRCA1_00084; dbSNP: rs80357218

NCBI 1000 Genomes Browser:

rs80357218

Molecular consequence:

NM_001407970.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-427A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.4072A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.4072A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.4000A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.4000A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.4000A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.4000A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.3880A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.3877A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.3877A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.3814A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.3814A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.3814A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.3814A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.3814A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.3745A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.3745A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.3745A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.3745A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.3700A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.3700A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.3697A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.3700A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.3577A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.3193A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.3193A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.1477A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.1477A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000144960	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000244353	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Benign (Aug 10, 2015)	germline	curation	PubMed (1) [See all records that cite this PMID] ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000487985	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Benign (Dec 8, 2015)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 17924331, 21990134, 16267036, 15385441, 18284688 Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000144960

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Uncertain significance
(May 29, 2002)

germline

clinical testing

SCV000244353

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))

Benign
(Aug 10, 2015)

germline

curation

PubMed (1)
[See all records that cite this PMID]

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000487985

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Benign
(Dec 8, 2015)

unknown

clinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Help

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	curation
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Ashkenazi	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.

Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.

PubMed [citation]

PMID:: 17924331
PMCID:: PMC2265654

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]

PMID:: 21990134
PMCID:: PMC3242438

See all PubMed Citations (5)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144960.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	Ashkenazi	2	not provided	not provided	clinical testing	not provided
3	Western European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244353.1

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

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000196

#	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 Counsyl, SCV000487985.2

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

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

Last Updated: Jul 15, 2024

ClinVar

Relating variation to medicine