NM_007294.4(BRCA1):c.5091T>G (p.Cys1697Trp) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 30, 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:: RCV003530120.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.5091T>G (p.Cys1697Trp)]

NM_007294.4(BRCA1):c.5091T>G (p.Cys1697Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.5091T>G (p.Cys1697Trp)

HGVS:

NC_000017.11:g.43063935A>C
NG_005905.2:g.154049T>G
NM_001407571.1:c.4878T>G
NM_001407581.1:c.5157T>G
NM_001407582.1:c.5157T>G
NM_001407583.1:c.5154T>G
NM_001407585.1:c.5154T>G
NM_001407587.1:c.5154T>G
NM_001407590.1:c.5151T>G
NM_001407591.1:c.5151T>G
NM_001407593.1:c.5091T>G
NM_001407594.1:c.5091T>G
NM_001407596.1:c.5091T>G
NM_001407597.1:c.5091T>G
NM_001407598.1:c.5091T>G
NM_001407602.1:c.5091T>G
NM_001407603.1:c.5091T>G
NM_001407605.1:c.5091T>G
NM_001407610.1:c.5088T>G
NM_001407611.1:c.5088T>G
NM_001407612.1:c.5088T>G
NM_001407613.1:c.5088T>G
NM_001407614.1:c.5088T>G
NM_001407615.1:c.5088T>G
NM_001407616.1:c.5088T>G
NM_001407617.1:c.5088T>G
NM_001407618.1:c.5088T>G
NM_001407619.1:c.5088T>G
NM_001407620.1:c.5088T>G
NM_001407621.1:c.5088T>G
NM_001407622.1:c.5088T>G
NM_001407623.1:c.5088T>G
NM_001407624.1:c.5088T>G
NM_001407625.1:c.5088T>G
NM_001407626.1:c.5088T>G
NM_001407627.1:c.5085T>G
NM_001407628.1:c.5085T>G
NM_001407629.1:c.5085T>G
NM_001407630.1:c.5085T>G
NM_001407631.1:c.5085T>G
NM_001407632.1:c.5085T>G
NM_001407633.1:c.5085T>G
NM_001407634.1:c.5085T>G
NM_001407635.1:c.5085T>G
NM_001407636.1:c.5085T>G
NM_001407637.1:c.5085T>G
NM_001407638.1:c.5085T>G
NM_001407639.1:c.5085T>G
NM_001407640.1:c.5085T>G
NM_001407641.1:c.5085T>G
NM_001407642.1:c.5085T>G
NM_001407644.1:c.5082T>G
NM_001407645.1:c.5082T>G
NM_001407646.1:c.5079T>G
NM_001407647.1:c.5076T>G
NM_001407648.1:c.5034T>G
NM_001407649.1:c.5031T>G
NM_001407653.1:c.5013T>G
NM_001407654.1:c.5013T>G
NM_001407655.1:c.5013T>G
NM_001407656.1:c.5010T>G
NM_001407657.1:c.5010T>G
NM_001407658.1:c.5010T>G
NM_001407659.1:c.5007T>G
NM_001407660.1:c.5007T>G
NM_001407661.1:c.5007T>G
NM_001407662.1:c.5007T>G
NM_001407663.1:c.5007T>G
NM_001407664.1:c.4968T>G
NM_001407665.1:c.4968T>G
NM_001407666.1:c.4968T>G
NM_001407667.1:c.4968T>G
NM_001407668.1:c.4968T>G
NM_001407669.1:c.4968T>G
NM_001407670.1:c.4965T>G
NM_001407671.1:c.4965T>G
NM_001407672.1:c.4965T>G
NM_001407673.1:c.4965T>G
NM_001407674.1:c.4965T>G
NM_001407675.1:c.4965T>G
NM_001407676.1:c.4965T>G
NM_001407677.1:c.4965T>G
NM_001407678.1:c.4965T>G
NM_001407679.1:c.4965T>G
NM_001407680.1:c.4965T>G
NM_001407681.1:c.4962T>G
NM_001407682.1:c.4962T>G
NM_001407683.1:c.4962T>G
NM_001407684.1:c.5091T>G
NM_001407685.1:c.4962T>G
NM_001407686.1:c.4962T>G
NM_001407687.1:c.4962T>G
NM_001407688.1:c.4962T>G
NM_001407689.1:c.4962T>G
NM_001407690.1:c.4959T>G
NM_001407691.1:c.4959T>G
NM_001407692.1:c.4950T>G
NM_001407694.1:c.4950T>G
NM_001407695.1:c.4950T>G
NM_001407696.1:c.4950T>G
NM_001407697.1:c.4950T>G
NM_001407698.1:c.4950T>G
NM_001407724.1:c.4950T>G
NM_001407725.1:c.4950T>G
NM_001407726.1:c.4950T>G
NM_001407727.1:c.4950T>G
NM_001407728.1:c.4950T>G
NM_001407729.1:c.4950T>G
NM_001407730.1:c.4950T>G
NM_001407731.1:c.4950T>G
NM_001407732.1:c.4947T>G
NM_001407733.1:c.4947T>G
NM_001407734.1:c.4947T>G
NM_001407735.1:c.4947T>G
NM_001407736.1:c.4947T>G
NM_001407737.1:c.4947T>G
NM_001407738.1:c.4947T>G
NM_001407739.1:c.4947T>G
NM_001407740.1:c.4947T>G
NM_001407741.1:c.4947T>G
NM_001407742.1:c.4947T>G
NM_001407743.1:c.4947T>G
NM_001407744.1:c.4947T>G
NM_001407745.1:c.4947T>G
NM_001407746.1:c.4947T>G
NM_001407747.1:c.4947T>G
NM_001407748.1:c.4947T>G
NM_001407749.1:c.4947T>G
NM_001407750.1:c.4947T>G
NM_001407751.1:c.4947T>G
NM_001407752.1:c.4947T>G
NM_001407838.1:c.4944T>G
NM_001407839.1:c.4944T>G
NM_001407841.1:c.4944T>G
NM_001407842.1:c.4944T>G
NM_001407843.1:c.4944T>G
NM_001407844.1:c.4944T>G
NM_001407845.1:c.4944T>G
NM_001407846.1:c.4944T>G
NM_001407847.1:c.4944T>G
NM_001407848.1:c.4944T>G
NM_001407849.1:c.4944T>G
NM_001407850.1:c.4944T>G
NM_001407851.1:c.4944T>G
NM_001407852.1:c.4944T>G
NM_001407853.1:c.4944T>G
NM_001407854.1:c.5091T>G
NM_001407858.1:c.5088T>G
NM_001407859.1:c.5088T>G
NM_001407860.1:c.5088T>G
NM_001407861.1:c.5085T>G
NM_001407862.1:c.4890T>G
NM_001407874.1:c.4884T>G
NM_001407875.1:c.4884T>G
NM_001407879.1:c.4881T>G
NM_001407881.1:c.4881T>G
NM_001407882.1:c.4881T>G
NM_001407884.1:c.4881T>G
NM_001407885.1:c.4881T>G
NM_001407886.1:c.4881T>G
NM_001407887.1:c.4881T>G
NM_001407889.1:c.4881T>G
NM_001407894.1:c.4878T>G
NM_001407895.1:c.4878T>G
NM_001407896.1:c.4878T>G
NM_001407897.1:c.4878T>G
NM_001407898.1:c.4878T>G
NM_001407899.1:c.4878T>G
NM_001407900.1:c.4878T>G
NM_001407902.1:c.4878T>G
NM_001407904.1:c.4878T>G
NM_001407906.1:c.4878T>G
NM_001407907.1:c.4878T>G
NM_001407908.1:c.4878T>G
NM_001407909.1:c.4878T>G
NM_001407910.1:c.4878T>G
NM_001407915.1:c.4875T>G
NM_001407916.1:c.4875T>G
NM_001407917.1:c.4875T>G
NM_001407918.1:c.4875T>G
NM_001407919.1:c.4968T>G
NM_001407920.1:c.4827T>G
NM_001407921.1:c.4827T>G
NM_001407922.1:c.4827T>G
NM_001407923.1:c.4827T>G
NM_001407924.1:c.4827T>G
NM_001407925.1:c.4827T>G
NM_001407926.1:c.4827T>G
NM_001407927.1:c.4824T>G
NM_001407928.1:c.4824T>G
NM_001407929.1:c.4824T>G
NM_001407930.1:c.4824T>G
NM_001407931.1:c.4824T>G
NM_001407932.1:c.4824T>G
NM_001407933.1:c.4824T>G
NM_001407934.1:c.4821T>G
NM_001407935.1:c.4821T>G
NM_001407936.1:c.4821T>G
NM_001407937.1:c.4968T>G
NM_001407938.1:c.4968T>G
NM_001407939.1:c.4965T>G
NM_001407940.1:c.4965T>G
NM_001407941.1:c.4962T>G
NM_001407942.1:c.4950T>G
NM_001407943.1:c.4947T>G
NM_001407944.1:c.4947T>G
NM_001407945.1:c.4947T>G
NM_001407946.1:c.4758T>G
NM_001407947.1:c.4758T>G
NM_001407948.1:c.4758T>G
NM_001407949.1:c.4758T>G
NM_001407950.1:c.4755T>G
NM_001407951.1:c.4755T>G
NM_001407952.1:c.4755T>G
NM_001407953.1:c.4755T>G
NM_001407954.1:c.4755T>G
NM_001407955.1:c.4755T>G
NM_001407956.1:c.4752T>G
NM_001407957.1:c.4752T>G
NM_001407958.1:c.4752T>G
NM_001407959.1:c.4710T>G
NM_001407960.1:c.4707T>G
NM_001407962.1:c.4707T>G
NM_001407963.1:c.4704T>G
NM_001407964.1:c.4629T>G
NM_001407965.1:c.4584T>G
NM_001407966.1:c.4203T>G
NM_001407967.1:c.4200T>G
NM_001407968.1:c.2487T>G
NM_001407969.1:c.2484T>G
NM_001407970.1:c.1848T>G
NM_001407971.1:c.1848T>G
NM_001407972.1:c.1845T>G
NM_001407973.1:c.1782T>G
NM_001407974.1:c.1782T>G
NM_001407975.1:c.1782T>G
NM_001407976.1:c.1782T>G
NM_001407977.1:c.1782T>G
NM_001407978.1:c.1782T>G
NM_001407979.1:c.1779T>G
NM_001407980.1:c.1779T>G
NM_001407981.1:c.1779T>G
NM_001407982.1:c.1779T>G
NM_001407983.1:c.1779T>G
NM_001407984.1:c.1779T>G
NM_001407985.1:c.1779T>G
NM_001407986.1:c.1779T>G
NM_001407990.1:c.1779T>G
NM_001407991.1:c.1779T>G
NM_001407992.1:c.1779T>G
NM_001407993.1:c.1779T>G
NM_001408392.1:c.1776T>G
NM_001408396.1:c.1776T>G
NM_001408397.1:c.1776T>G
NM_001408398.1:c.1776T>G
NM_001408399.1:c.1776T>G
NM_001408400.1:c.1776T>G
NM_001408401.1:c.1776T>G
NM_001408402.1:c.1776T>G
NM_001408403.1:c.1776T>G
NM_001408404.1:c.1776T>G
NM_001408406.1:c.1773T>G
NM_001408407.1:c.1773T>G
NM_001408408.1:c.1773T>G
NM_001408409.1:c.1770T>G
NM_001408410.1:c.1707T>G
NM_001408411.1:c.1704T>G
NM_001408412.1:c.1701T>G
NM_001408413.1:c.1701T>G
NM_001408414.1:c.1701T>G
NM_001408415.1:c.1701T>G
NM_001408416.1:c.1701T>G
NM_001408418.1:c.1665T>G
NM_001408419.1:c.1665T>G
NM_001408420.1:c.1665T>G
NM_001408421.1:c.1662T>G
NM_001408422.1:c.1662T>G
NM_001408423.1:c.1662T>G
NM_001408424.1:c.1662T>G
NM_001408425.1:c.1659T>G
NM_001408426.1:c.1659T>G
NM_001408427.1:c.1659T>G
NM_001408428.1:c.1659T>G
NM_001408429.1:c.1659T>G
NM_001408430.1:c.1659T>G
NM_001408431.1:c.1659T>G
NM_001408432.1:c.1656T>G
NM_001408433.1:c.1656T>G
NM_001408434.1:c.1656T>G
NM_001408435.1:c.1656T>G
NM_001408436.1:c.1656T>G
NM_001408437.1:c.1656T>G
NM_001408438.1:c.1656T>G
NM_001408439.1:c.1656T>G
NM_001408440.1:c.1656T>G
NM_001408441.1:c.1656T>G
NM_001408442.1:c.1656T>G
NM_001408443.1:c.1656T>G
NM_001408444.1:c.1656T>G
NM_001408445.1:c.1653T>G
NM_001408446.1:c.1653T>G
NM_001408447.1:c.1653T>G
NM_001408448.1:c.1653T>G
NM_001408450.1:c.1653T>G
NM_001408451.1:c.1647T>G
NM_001408452.1:c.1641T>G
NM_001408453.1:c.1641T>G
NM_001408454.1:c.1641T>G
NM_001408455.1:c.1641T>G
NM_001408456.1:c.1641T>G
NM_001408457.1:c.1641T>G
NM_001408458.1:c.1638T>G
NM_001408459.1:c.1638T>G
NM_001408460.1:c.1638T>G
NM_001408461.1:c.1638T>G
NM_001408462.1:c.1638T>G
NM_001408463.1:c.1638T>G
NM_001408464.1:c.1638T>G
NM_001408465.1:c.1638T>G
NM_001408466.1:c.1638T>G
NM_001408467.1:c.1638T>G
NM_001408468.1:c.1635T>G
NM_001408469.1:c.1635T>G
NM_001408470.1:c.1635T>G
NM_001408472.1:c.1779T>G
NM_001408473.1:c.1776T>G
NM_001408474.1:c.1581T>G
NM_001408475.1:c.1578T>G
NM_001408476.1:c.1578T>G
NM_001408478.1:c.1572T>G
NM_001408479.1:c.1572T>G
NM_001408480.1:c.1572T>G
NM_001408481.1:c.1569T>G
NM_001408482.1:c.1569T>G
NM_001408483.1:c.1569T>G
NM_001408484.1:c.1569T>G
NM_001408485.1:c.1569T>G
NM_001408489.1:c.1569T>G
NM_001408490.1:c.1569T>G
NM_001408491.1:c.1569T>G
NM_001408492.1:c.1566T>G
NM_001408493.1:c.1566T>G
NM_001408494.1:c.1542T>G
NM_001408495.1:c.1536T>G
NM_001408496.1:c.1518T>G
NM_001408497.1:c.1518T>G
NM_001408498.1:c.1518T>G
NM_001408499.1:c.1518T>G
NM_001408500.1:c.1518T>G
NM_001408501.1:c.1518T>G
NM_001408502.1:c.1515T>G
NM_001408503.1:c.1515T>G
NM_001408504.1:c.1515T>G
NM_001408505.1:c.1512T>G
NM_001408506.1:c.1455T>G
NM_001408507.1:c.1452T>G
NM_001408508.1:c.1443T>G
NM_001408509.1:c.1440T>G
NM_001408510.1:c.1401T>G
NM_001408511.1:c.1398T>G
NM_001408512.1:c.1278T>G
NM_001408513.1:c.1251T>G
NM_001408514.1:c.855T>G
NM_007294.4:c.5091T>GMANE SELECT
NM_007297.4:c.4950T>G
NM_007298.4:c.1779T>G
NM_007299.4:c.1779T>G
NM_007300.4:c.5154T>G
NM_007304.2:c.1779T>G
NP_001394500.1:p.Cys1626Trp
NP_001394510.1:p.Cys1719Trp
NP_001394511.1:p.Cys1719Trp
NP_001394512.1:p.Cys1718Trp
NP_001394514.1:p.Cys1718Trp
NP_001394516.1:p.Cys1718Trp
NP_001394519.1:p.Cys1717Trp
NP_001394520.1:p.Cys1717Trp
NP_001394522.1:p.Cys1697Trp
NP_001394523.1:p.Cys1697Trp
NP_001394525.1:p.Cys1697Trp
NP_001394526.1:p.Cys1697Trp
NP_001394527.1:p.Cys1697Trp
NP_001394531.1:p.Cys1697Trp
NP_001394532.1:p.Cys1697Trp
NP_001394534.1:p.Cys1697Trp
NP_001394539.1:p.Cys1696Trp
NP_001394540.1:p.Cys1696Trp
NP_001394541.1:p.Cys1696Trp
NP_001394542.1:p.Cys1696Trp
NP_001394543.1:p.Cys1696Trp
NP_001394544.1:p.Cys1696Trp
NP_001394545.1:p.Cys1696Trp
NP_001394546.1:p.Cys1696Trp
NP_001394547.1:p.Cys1696Trp
NP_001394548.1:p.Cys1696Trp
NP_001394549.1:p.Cys1696Trp
NP_001394550.1:p.Cys1696Trp
NP_001394551.1:p.Cys1696Trp
NP_001394552.1:p.Cys1696Trp
NP_001394553.1:p.Cys1696Trp
NP_001394554.1:p.Cys1696Trp
NP_001394555.1:p.Cys1696Trp
NP_001394556.1:p.Cys1695Trp
NP_001394557.1:p.Cys1695Trp
NP_001394558.1:p.Cys1695Trp
NP_001394559.1:p.Cys1695Trp
NP_001394560.1:p.Cys1695Trp
NP_001394561.1:p.Cys1695Trp
NP_001394562.1:p.Cys1695Trp
NP_001394563.1:p.Cys1695Trp
NP_001394564.1:p.Cys1695Trp
NP_001394565.1:p.Cys1695Trp
NP_001394566.1:p.Cys1695Trp
NP_001394567.1:p.Cys1695Trp
NP_001394568.1:p.Cys1695Trp
NP_001394569.1:p.Cys1695Trp
NP_001394570.1:p.Cys1695Trp
NP_001394571.1:p.Cys1695Trp
NP_001394573.1:p.Cys1694Trp
NP_001394574.1:p.Cys1694Trp
NP_001394575.1:p.Cys1693Trp
NP_001394576.1:p.Cys1692Trp
NP_001394577.1:p.Cys1678Trp
NP_001394578.1:p.Cys1677Trp
NP_001394582.1:p.Cys1671Trp
NP_001394583.1:p.Cys1671Trp
NP_001394584.1:p.Cys1671Trp
NP_001394585.1:p.Cys1670Trp
NP_001394586.1:p.Cys1670Trp
NP_001394587.1:p.Cys1670Trp
NP_001394588.1:p.Cys1669Trp
NP_001394589.1:p.Cys1669Trp
NP_001394590.1:p.Cys1669Trp
NP_001394591.1:p.Cys1669Trp
NP_001394592.1:p.Cys1669Trp
NP_001394593.1:p.Cys1656Trp
NP_001394594.1:p.Cys1656Trp
NP_001394595.1:p.Cys1656Trp
NP_001394596.1:p.Cys1656Trp
NP_001394597.1:p.Cys1656Trp
NP_001394598.1:p.Cys1656Trp
NP_001394599.1:p.Cys1655Trp
NP_001394600.1:p.Cys1655Trp
NP_001394601.1:p.Cys1655Trp
NP_001394602.1:p.Cys1655Trp
NP_001394603.1:p.Cys1655Trp
NP_001394604.1:p.Cys1655Trp
NP_001394605.1:p.Cys1655Trp
NP_001394606.1:p.Cys1655Trp
NP_001394607.1:p.Cys1655Trp
NP_001394608.1:p.Cys1655Trp
NP_001394609.1:p.Cys1655Trp
NP_001394610.1:p.Cys1654Trp
NP_001394611.1:p.Cys1654Trp
NP_001394612.1:p.Cys1654Trp
NP_001394613.1:p.Cys1697Trp
NP_001394614.1:p.Cys1654Trp
NP_001394615.1:p.Cys1654Trp
NP_001394616.1:p.Cys1654Trp
NP_001394617.1:p.Cys1654Trp
NP_001394618.1:p.Cys1654Trp
NP_001394619.1:p.Cys1653Trp
NP_001394620.1:p.Cys1653Trp
NP_001394621.1:p.Cys1650Trp
NP_001394623.1:p.Cys1650Trp
NP_001394624.1:p.Cys1650Trp
NP_001394625.1:p.Cys1650Trp
NP_001394626.1:p.Cys1650Trp
NP_001394627.1:p.Cys1650Trp
NP_001394653.1:p.Cys1650Trp
NP_001394654.1:p.Cys1650Trp
NP_001394655.1:p.Cys1650Trp
NP_001394656.1:p.Cys1650Trp
NP_001394657.1:p.Cys1650Trp
NP_001394658.1:p.Cys1650Trp
NP_001394659.1:p.Cys1650Trp
NP_001394660.1:p.Cys1650Trp
NP_001394661.1:p.Cys1649Trp
NP_001394662.1:p.Cys1649Trp
NP_001394663.1:p.Cys1649Trp
NP_001394664.1:p.Cys1649Trp
NP_001394665.1:p.Cys1649Trp
NP_001394666.1:p.Cys1649Trp
NP_001394667.1:p.Cys1649Trp
NP_001394668.1:p.Cys1649Trp
NP_001394669.1:p.Cys1649Trp
NP_001394670.1:p.Cys1649Trp
NP_001394671.1:p.Cys1649Trp
NP_001394672.1:p.Cys1649Trp
NP_001394673.1:p.Cys1649Trp
NP_001394674.1:p.Cys1649Trp
NP_001394675.1:p.Cys1649Trp
NP_001394676.1:p.Cys1649Trp
NP_001394677.1:p.Cys1649Trp
NP_001394678.1:p.Cys1649Trp
NP_001394679.1:p.Cys1649Trp
NP_001394680.1:p.Cys1649Trp
NP_001394681.1:p.Cys1649Trp
NP_001394767.1:p.Cys1648Trp
NP_001394768.1:p.Cys1648Trp
NP_001394770.1:p.Cys1648Trp
NP_001394771.1:p.Cys1648Trp
NP_001394772.1:p.Cys1648Trp
NP_001394773.1:p.Cys1648Trp
NP_001394774.1:p.Cys1648Trp
NP_001394775.1:p.Cys1648Trp
NP_001394776.1:p.Cys1648Trp
NP_001394777.1:p.Cys1648Trp
NP_001394778.1:p.Cys1648Trp
NP_001394779.1:p.Cys1648Trp
NP_001394780.1:p.Cys1648Trp
NP_001394781.1:p.Cys1648Trp
NP_001394782.1:p.Cys1648Trp
NP_001394783.1:p.Cys1697Trp
NP_001394787.1:p.Cys1696Trp
NP_001394788.1:p.Cys1696Trp
NP_001394789.1:p.Cys1696Trp
NP_001394790.1:p.Cys1695Trp
NP_001394791.1:p.Cys1630Trp
NP_001394803.1:p.Cys1628Trp
NP_001394804.1:p.Cys1628Trp
NP_001394808.1:p.Cys1627Trp
NP_001394810.1:p.Cys1627Trp
NP_001394811.1:p.Cys1627Trp
NP_001394813.1:p.Cys1627Trp
NP_001394814.1:p.Cys1627Trp
NP_001394815.1:p.Cys1627Trp
NP_001394816.1:p.Cys1627Trp
NP_001394818.1:p.Cys1627Trp
NP_001394823.1:p.Cys1626Trp
NP_001394824.1:p.Cys1626Trp
NP_001394825.1:p.Cys1626Trp
NP_001394826.1:p.Cys1626Trp
NP_001394827.1:p.Cys1626Trp
NP_001394828.1:p.Cys1626Trp
NP_001394829.1:p.Cys1626Trp
NP_001394831.1:p.Cys1626Trp
NP_001394833.1:p.Cys1626Trp
NP_001394835.1:p.Cys1626Trp
NP_001394836.1:p.Cys1626Trp
NP_001394837.1:p.Cys1626Trp
NP_001394838.1:p.Cys1626Trp
NP_001394839.1:p.Cys1626Trp
NP_001394844.1:p.Cys1625Trp
NP_001394845.1:p.Cys1625Trp
NP_001394846.1:p.Cys1625Trp
NP_001394847.1:p.Cys1625Trp
NP_001394848.1:p.Cys1656Trp
NP_001394849.1:p.Cys1609Trp
NP_001394850.1:p.Cys1609Trp
NP_001394851.1:p.Cys1609Trp
NP_001394852.1:p.Cys1609Trp
NP_001394853.1:p.Cys1609Trp
NP_001394854.1:p.Cys1609Trp
NP_001394855.1:p.Cys1609Trp
NP_001394856.1:p.Cys1608Trp
NP_001394857.1:p.Cys1608Trp
NP_001394858.1:p.Cys1608Trp
NP_001394859.1:p.Cys1608Trp
NP_001394860.1:p.Cys1608Trp
NP_001394861.1:p.Cys1608Trp
NP_001394862.1:p.Cys1608Trp
NP_001394863.1:p.Cys1607Trp
NP_001394864.1:p.Cys1607Trp
NP_001394865.1:p.Cys1607Trp
NP_001394866.1:p.Cys1656Trp
NP_001394867.1:p.Cys1656Trp
NP_001394868.1:p.Cys1655Trp
NP_001394869.1:p.Cys1655Trp
NP_001394870.1:p.Cys1654Trp
NP_001394871.1:p.Cys1650Trp
NP_001394872.1:p.Cys1649Trp
NP_001394873.1:p.Cys1649Trp
NP_001394874.1:p.Cys1649Trp
NP_001394875.1:p.Cys1586Trp
NP_001394876.1:p.Cys1586Trp
NP_001394877.1:p.Cys1586Trp
NP_001394878.1:p.Cys1586Trp
NP_001394879.1:p.Cys1585Trp
NP_001394880.1:p.Cys1585Trp
NP_001394881.1:p.Cys1585Trp
NP_001394882.1:p.Cys1585Trp
NP_001394883.1:p.Cys1585Trp
NP_001394884.1:p.Cys1585Trp
NP_001394885.1:p.Cys1584Trp
NP_001394886.1:p.Cys1584Trp
NP_001394887.1:p.Cys1584Trp
NP_001394888.1:p.Cys1570Trp
NP_001394889.1:p.Cys1569Trp
NP_001394891.1:p.Cys1569Trp
NP_001394892.1:p.Cys1568Trp
NP_001394893.1:p.Cys1543Trp
NP_001394894.1:p.Cys1528Trp
NP_001394895.1:p.Cys1401Trp
NP_001394896.1:p.Cys1400Trp
NP_001394897.1:p.Cys829Trp
NP_001394898.1:p.Cys828Trp
NP_001394899.1:p.Cys616Trp
NP_001394900.1:p.Cys616Trp
NP_001394901.1:p.Cys615Trp
NP_001394902.1:p.Cys594Trp
NP_001394903.1:p.Cys594Trp
NP_001394904.1:p.Cys594Trp
NP_001394905.1:p.Cys594Trp
NP_001394906.1:p.Cys594Trp
NP_001394907.1:p.Cys594Trp
NP_001394908.1:p.Cys593Trp
NP_001394909.1:p.Cys593Trp
NP_001394910.1:p.Cys593Trp
NP_001394911.1:p.Cys593Trp
NP_001394912.1:p.Cys593Trp
NP_001394913.1:p.Cys593Trp
NP_001394914.1:p.Cys593Trp
NP_001394915.1:p.Cys593Trp
NP_001394919.1:p.Cys593Trp
NP_001394920.1:p.Cys593Trp
NP_001394921.1:p.Cys593Trp
NP_001394922.1:p.Cys593Trp
NP_001395321.1:p.Cys592Trp
NP_001395325.1:p.Cys592Trp
NP_001395326.1:p.Cys592Trp
NP_001395327.1:p.Cys592Trp
NP_001395328.1:p.Cys592Trp
NP_001395329.1:p.Cys592Trp
NP_001395330.1:p.Cys592Trp
NP_001395331.1:p.Cys592Trp
NP_001395332.1:p.Cys592Trp
NP_001395333.1:p.Cys592Trp
NP_001395335.1:p.Cys591Trp
NP_001395336.1:p.Cys591Trp
NP_001395337.1:p.Cys591Trp
NP_001395338.1:p.Cys590Trp
NP_001395339.1:p.Cys569Trp
NP_001395340.1:p.Cys568Trp
NP_001395341.1:p.Cys567Trp
NP_001395342.1:p.Cys567Trp
NP_001395343.1:p.Cys567Trp
NP_001395344.1:p.Cys567Trp
NP_001395345.1:p.Cys567Trp
NP_001395347.1:p.Cys555Trp
NP_001395348.1:p.Cys555Trp
NP_001395349.1:p.Cys555Trp
NP_001395350.1:p.Cys554Trp
NP_001395351.1:p.Cys554Trp
NP_001395352.1:p.Cys554Trp
NP_001395353.1:p.Cys554Trp
NP_001395354.1:p.Cys553Trp
NP_001395355.1:p.Cys553Trp
NP_001395356.1:p.Cys553Trp
NP_001395357.1:p.Cys553Trp
NP_001395358.1:p.Cys553Trp
NP_001395359.1:p.Cys553Trp
NP_001395360.1:p.Cys553Trp
NP_001395361.1:p.Cys552Trp
NP_001395362.1:p.Cys552Trp
NP_001395363.1:p.Cys552Trp
NP_001395364.1:p.Cys552Trp
NP_001395365.1:p.Cys552Trp
NP_001395366.1:p.Cys552Trp
NP_001395367.1:p.Cys552Trp
NP_001395368.1:p.Cys552Trp
NP_001395369.1:p.Cys552Trp
NP_001395370.1:p.Cys552Trp
NP_001395371.1:p.Cys552Trp
NP_001395372.1:p.Cys552Trp
NP_001395373.1:p.Cys552Trp
NP_001395374.1:p.Cys551Trp
NP_001395375.1:p.Cys551Trp
NP_001395376.1:p.Cys551Trp
NP_001395377.1:p.Cys551Trp
NP_001395379.1:p.Cys551Trp
NP_001395380.1:p.Cys549Trp
NP_001395381.1:p.Cys547Trp
NP_001395382.1:p.Cys547Trp
NP_001395383.1:p.Cys547Trp
NP_001395384.1:p.Cys547Trp
NP_001395385.1:p.Cys547Trp
NP_001395386.1:p.Cys547Trp
NP_001395387.1:p.Cys546Trp
NP_001395388.1:p.Cys546Trp
NP_001395389.1:p.Cys546Trp
NP_001395390.1:p.Cys546Trp
NP_001395391.1:p.Cys546Trp
NP_001395392.1:p.Cys546Trp
NP_001395393.1:p.Cys546Trp
NP_001395394.1:p.Cys546Trp
NP_001395395.1:p.Cys546Trp
NP_001395396.1:p.Cys546Trp
NP_001395397.1:p.Cys545Trp
NP_001395398.1:p.Cys545Trp
NP_001395399.1:p.Cys545Trp
NP_001395401.1:p.Cys593Trp
NP_001395402.1:p.Cys592Trp
NP_001395403.1:p.Cys527Trp
NP_001395404.1:p.Cys526Trp
NP_001395405.1:p.Cys526Trp
NP_001395407.1:p.Cys524Trp
NP_001395408.1:p.Cys524Trp
NP_001395409.1:p.Cys524Trp
NP_001395410.1:p.Cys523Trp
NP_001395411.1:p.Cys523Trp
NP_001395412.1:p.Cys523Trp
NP_001395413.1:p.Cys523Trp
NP_001395414.1:p.Cys523Trp
NP_001395418.1:p.Cys523Trp
NP_001395419.1:p.Cys523Trp
NP_001395420.1:p.Cys523Trp
NP_001395421.1:p.Cys522Trp
NP_001395422.1:p.Cys522Trp
NP_001395423.1:p.Cys514Trp
NP_001395424.1:p.Cys512Trp
NP_001395425.1:p.Cys506Trp
NP_001395426.1:p.Cys506Trp
NP_001395427.1:p.Cys506Trp
NP_001395428.1:p.Cys506Trp
NP_001395429.1:p.Cys506Trp
NP_001395430.1:p.Cys506Trp
NP_001395431.1:p.Cys505Trp
NP_001395432.1:p.Cys505Trp
NP_001395433.1:p.Cys505Trp
NP_001395434.1:p.Cys504Trp
NP_001395435.1:p.Cys485Trp
NP_001395436.1:p.Cys484Trp
NP_001395437.1:p.Cys481Trp
NP_001395438.1:p.Cys480Trp
NP_001395439.1:p.Cys467Trp
NP_001395440.1:p.Cys466Trp
NP_001395441.1:p.Cys426Trp
NP_001395442.1:p.Cys417Trp
NP_001395443.1:p.Cys285Trp
NP_009225.1:p.Cys1697Trp
NP_009225.1:p.Cys1697Trp
NP_009228.2:p.Cys1650Trp
NP_009229.2:p.Cys593Trp
NP_009229.2:p.Cys593Trp
NP_009230.2:p.Cys593Trp
NP_009231.2:p.Cys1718Trp
NP_009235.2:p.Cys593Trp
LRG_292t1:c.5091T>G
LRG_292:g.154049T>G
LRG_292p1:p.Cys1697Trp
NC_000017.10:g.41215952A>C
NC_000017.10:g.41215952A>C
NM_007294.3:c.5091T>G
NM_007298.3:c.1779T>G
NR_027676.2:n.5268T>G

Protein change:

C1400W

Links:

dbSNP: rs1597820426

NCBI 1000 Genomes Browser:

rs1597820426

Molecular consequence:

NM_001407571.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.5157T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.5157T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.5154T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.5154T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.5154T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.5151T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.5151T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.5091T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.5091T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.5091T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.5091T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.5091T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.5091T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.5091T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.5091T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.5082T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.5082T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.5079T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.5076T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.5034T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.5031T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.5013T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.5013T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.5013T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.5010T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.5010T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.5010T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.5007T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.5007T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.5007T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.5007T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.5007T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.4968T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.4968T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.4968T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.4968T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.4968T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.4968T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.4962T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.4962T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.4962T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.5091T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.4962T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.4962T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.4962T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.4962T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.4962T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.4959T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.4959T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.4944T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.5091T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.5088T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.5085T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.4890T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.4884T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.4884T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.4881T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.4881T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.4881T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.4881T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.4881T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.4881T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.4881T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.4881T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.4878T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.4875T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.4875T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.4875T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.4875T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.4968T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.4827T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.4827T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.4827T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.4827T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.4827T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.4827T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.4827T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.4824T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.4824T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.4824T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.4824T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.4824T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.4824T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.4824T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.4821T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.4821T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.4821T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.4968T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.4968T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.4965T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.4962T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.4947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.4758T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.4758T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.4758T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.4758T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.4755T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.4755T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.4755T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.4755T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.4755T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.4755T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.4752T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.4752T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.4752T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.4710T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.4707T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.4707T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.4704T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.4629T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.4584T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.4203T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.4200T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.2487T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.2484T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.1848T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.1848T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.1845T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.1782T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.1782T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.1782T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.1782T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.1782T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.1782T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.1776T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.1776T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.1776T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.1776T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.1776T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.1776T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.1776T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.1776T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.1776T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.1776T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.1773T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.1773T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.1773T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.1770T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.1707T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.1704T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.1701T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.1701T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.1701T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.1701T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.1701T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.1665T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.1665T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.1665T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.1662T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.1662T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.1662T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.1662T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.1659T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.1659T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.1659T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.1659T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.1659T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.1659T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.1659T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.1656T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.1653T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.1653T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.1653T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.1653T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.1653T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.1647T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.1641T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.1641T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.1641T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.1641T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.1641T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.1641T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.1638T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.1638T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.1638T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.1638T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.1638T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.1638T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.1638T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.1638T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.1638T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.1638T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.1635T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.1635T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.1635T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.1776T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.1581T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.1578T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.1578T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.1572T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.1572T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.1572T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.1569T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.1569T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.1569T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.1569T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.1569T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.1569T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.1569T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.1569T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.1566T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.1566T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.1542T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.1536T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.1518T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.1518T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.1518T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.1518T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.1518T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.1518T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.1515T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.1515T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.1515T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.1512T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408506.1:c.1455T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408507.1:c.1452T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.1443T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.1440T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408510.1:c.1401T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.1398T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408512.1:c.1278T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408513.1:c.1251T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408514.1:c.855T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.5091T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.4950T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.5154T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.1779T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.5268T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004314120	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Jul 30, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 11157798, 11389159, 18465347, 30209399, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004314120

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Jul 30, 2023)

germline

clinical testing

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

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	clinical testing

Citations

PubMed

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.

Vallon-Christersson J, Cayanan C, Haraldsson K, Loman N, Bergthorsson JT, Brøndum-Nielsen K, Gerdes AM, Møller P, Kristoffersson U, Olsson H, Borg A, Monteiro AN.

Hum Mol Genet. 2001 Feb 15;10(4):353-60.

PubMed [citation]

PMID:: 11157798
PMCID:: PMC4756649

BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

Bergthorsson JT, Ejlertsen B, Olsen JH, Borg A, Nielsen KV, Barkardottir RB, Klausen S, Mouridsen HT, Winther K, Fenger K, Niebuhr A, Harboe TL, Niebuhr E.

J Med Genet. 2001 Jun;38(6):361-8.

PubMed [citation]

PMID:: 11389159
PMCID:: PMC1734886

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004314120.1

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

Description

This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Cys1697 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11157798, 11389159, 18465347). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 801082). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 1697 of the BRCA1 protein (p.Cys1697Trp).

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine