NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) AND not specified

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Jun 13, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000212187.17

Allele description [Variation Report for NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)]

NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)

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.4882A>G (p.Met1628Val)

Other names:

p.M1628V:ATG>GTG

HGVS:

NC_000017.11:g.43071032T>C
NG_005905.2:g.146952A>G
NM_001407571.1:c.4669A>G
NM_001407581.1:c.4948A>G
NM_001407582.1:c.4948A>G
NM_001407583.1:c.4945A>G
NM_001407585.1:c.4945A>G
NM_001407587.1:c.4945A>G
NM_001407590.1:c.4942A>G
NM_001407591.1:c.4942A>G
NM_001407593.1:c.4882A>G
NM_001407594.1:c.4882A>G
NM_001407596.1:c.4882A>G
NM_001407597.1:c.4882A>G
NM_001407598.1:c.4882A>G
NM_001407602.1:c.4882A>G
NM_001407603.1:c.4882A>G
NM_001407605.1:c.4882A>G
NM_001407610.1:c.4879A>G
NM_001407611.1:c.4879A>G
NM_001407612.1:c.4879A>G
NM_001407613.1:c.4879A>G
NM_001407614.1:c.4879A>G
NM_001407615.1:c.4879A>G
NM_001407616.1:c.4879A>G
NM_001407617.1:c.4879A>G
NM_001407618.1:c.4879A>G
NM_001407619.1:c.4879A>G
NM_001407620.1:c.4879A>G
NM_001407621.1:c.4879A>G
NM_001407622.1:c.4879A>G
NM_001407623.1:c.4879A>G
NM_001407624.1:c.4879A>G
NM_001407625.1:c.4879A>G
NM_001407626.1:c.4879A>G
NM_001407627.1:c.4876A>G
NM_001407628.1:c.4876A>G
NM_001407629.1:c.4876A>G
NM_001407630.1:c.4876A>G
NM_001407631.1:c.4876A>G
NM_001407632.1:c.4876A>G
NM_001407633.1:c.4876A>G
NM_001407634.1:c.4876A>G
NM_001407635.1:c.4876A>G
NM_001407636.1:c.4876A>G
NM_001407637.1:c.4876A>G
NM_001407638.1:c.4876A>G
NM_001407639.1:c.4876A>G
NM_001407640.1:c.4876A>G
NM_001407641.1:c.4876A>G
NM_001407642.1:c.4876A>G
NM_001407644.1:c.4873A>G
NM_001407645.1:c.4873A>G
NM_001407646.1:c.4870A>G
NM_001407647.1:c.4867A>G
NM_001407648.1:c.4825A>G
NM_001407649.1:c.4822A>G
NM_001407652.1:c.4882A>G
NM_001407653.1:c.4804A>G
NM_001407654.1:c.4804A>G
NM_001407655.1:c.4804A>G
NM_001407656.1:c.4801A>G
NM_001407657.1:c.4801A>G
NM_001407658.1:c.4801A>G
NM_001407659.1:c.4798A>G
NM_001407660.1:c.4798A>G
NM_001407661.1:c.4798A>G
NM_001407662.1:c.4798A>G
NM_001407663.1:c.4798A>G
NM_001407664.1:c.4759A>G
NM_001407665.1:c.4759A>G
NM_001407666.1:c.4759A>G
NM_001407667.1:c.4759A>G
NM_001407668.1:c.4759A>G
NM_001407669.1:c.4759A>G
NM_001407670.1:c.4756A>G
NM_001407671.1:c.4756A>G
NM_001407672.1:c.4756A>G
NM_001407673.1:c.4756A>G
NM_001407674.1:c.4756A>G
NM_001407675.1:c.4756A>G
NM_001407676.1:c.4756A>G
NM_001407677.1:c.4756A>G
NM_001407678.1:c.4756A>G
NM_001407679.1:c.4756A>G
NM_001407680.1:c.4756A>G
NM_001407681.1:c.4753A>G
NM_001407682.1:c.4753A>G
NM_001407683.1:c.4753A>G
NM_001407684.1:c.4882A>G
NM_001407685.1:c.4753A>G
NM_001407686.1:c.4753A>G
NM_001407687.1:c.4753A>G
NM_001407688.1:c.4753A>G
NM_001407689.1:c.4753A>G
NM_001407690.1:c.4750A>G
NM_001407691.1:c.4750A>G
NM_001407692.1:c.4741A>G
NM_001407694.1:c.4741A>G
NM_001407695.1:c.4741A>G
NM_001407696.1:c.4741A>G
NM_001407697.1:c.4741A>G
NM_001407698.1:c.4741A>G
NM_001407724.1:c.4741A>G
NM_001407725.1:c.4741A>G
NM_001407726.1:c.4741A>G
NM_001407727.1:c.4741A>G
NM_001407728.1:c.4741A>G
NM_001407729.1:c.4741A>G
NM_001407730.1:c.4741A>G
NM_001407731.1:c.4741A>G
NM_001407732.1:c.4738A>G
NM_001407733.1:c.4738A>G
NM_001407734.1:c.4738A>G
NM_001407735.1:c.4738A>G
NM_001407736.1:c.4738A>G
NM_001407737.1:c.4738A>G
NM_001407738.1:c.4738A>G
NM_001407739.1:c.4738A>G
NM_001407740.1:c.4738A>G
NM_001407741.1:c.4738A>G
NM_001407742.1:c.4738A>G
NM_001407743.1:c.4738A>G
NM_001407744.1:c.4738A>G
NM_001407745.1:c.4738A>G
NM_001407746.1:c.4738A>G
NM_001407747.1:c.4738A>G
NM_001407748.1:c.4738A>G
NM_001407749.1:c.4738A>G
NM_001407750.1:c.4738A>G
NM_001407751.1:c.4738A>G
NM_001407752.1:c.4738A>G
NM_001407838.1:c.4735A>G
NM_001407839.1:c.4735A>G
NM_001407841.1:c.4735A>G
NM_001407842.1:c.4735A>G
NM_001407843.1:c.4735A>G
NM_001407844.1:c.4735A>G
NM_001407845.1:c.4735A>G
NM_001407846.1:c.4735A>G
NM_001407847.1:c.4735A>G
NM_001407848.1:c.4735A>G
NM_001407849.1:c.4735A>G
NM_001407850.1:c.4735A>G
NM_001407851.1:c.4735A>G
NM_001407852.1:c.4735A>G
NM_001407853.1:c.4735A>G
NM_001407854.1:c.4882A>G
NM_001407858.1:c.4879A>G
NM_001407859.1:c.4879A>G
NM_001407860.1:c.4879A>G
NM_001407861.1:c.4876A>G
NM_001407862.1:c.4681A>G
NM_001407863.1:c.4756A>G
NM_001407874.1:c.4675A>G
NM_001407875.1:c.4675A>G
NM_001407879.1:c.4672A>G
NM_001407881.1:c.4672A>G
NM_001407882.1:c.4672A>G
NM_001407884.1:c.4672A>G
NM_001407885.1:c.4672A>G
NM_001407886.1:c.4672A>G
NM_001407887.1:c.4672A>G
NM_001407889.1:c.4672A>G
NM_001407894.1:c.4669A>G
NM_001407895.1:c.4669A>G
NM_001407896.1:c.4669A>G
NM_001407897.1:c.4669A>G
NM_001407898.1:c.4669A>G
NM_001407899.1:c.4669A>G
NM_001407900.1:c.4669A>G
NM_001407902.1:c.4669A>G
NM_001407904.1:c.4669A>G
NM_001407906.1:c.4669A>G
NM_001407907.1:c.4669A>G
NM_001407908.1:c.4669A>G
NM_001407909.1:c.4669A>G
NM_001407910.1:c.4669A>G
NM_001407915.1:c.4666A>G
NM_001407916.1:c.4666A>G
NM_001407917.1:c.4666A>G
NM_001407918.1:c.4666A>G
NM_001407919.1:c.4759A>G
NM_001407920.1:c.4618A>G
NM_001407921.1:c.4618A>G
NM_001407922.1:c.4618A>G
NM_001407923.1:c.4618A>G
NM_001407924.1:c.4618A>G
NM_001407925.1:c.4618A>G
NM_001407926.1:c.4618A>G
NM_001407927.1:c.4615A>G
NM_001407928.1:c.4615A>G
NM_001407929.1:c.4615A>G
NM_001407930.1:c.4615A>G
NM_001407931.1:c.4615A>G
NM_001407932.1:c.4615A>G
NM_001407933.1:c.4615A>G
NM_001407934.1:c.4612A>G
NM_001407935.1:c.4612A>G
NM_001407936.1:c.4612A>G
NM_001407937.1:c.4759A>G
NM_001407938.1:c.4759A>G
NM_001407939.1:c.4756A>G
NM_001407940.1:c.4756A>G
NM_001407941.1:c.4753A>G
NM_001407942.1:c.4741A>G
NM_001407943.1:c.4738A>G
NM_001407944.1:c.4738A>G
NM_001407945.1:c.4738A>G
NM_001407946.1:c.4549A>G
NM_001407947.1:c.4549A>G
NM_001407948.1:c.4549A>G
NM_001407949.1:c.4549A>G
NM_001407950.1:c.4546A>G
NM_001407951.1:c.4546A>G
NM_001407952.1:c.4546A>G
NM_001407953.1:c.4546A>G
NM_001407954.1:c.4546A>G
NM_001407955.1:c.4546A>G
NM_001407956.1:c.4543A>G
NM_001407957.1:c.4543A>G
NM_001407958.1:c.4543A>G
NM_001407959.1:c.4501A>G
NM_001407960.1:c.4498A>G
NM_001407962.1:c.4498A>G
NM_001407963.1:c.4495A>G
NM_001407964.1:c.4420A>G
NM_001407965.1:c.4375A>G
NM_001407966.1:c.3994A>G
NM_001407967.1:c.3991A>G
NM_001407968.1:c.2278A>G
NM_001407969.1:c.2275A>G
NM_001407970.1:c.1639A>G
NM_001407971.1:c.1639A>G
NM_001407972.1:c.1636A>G
NM_001407973.1:c.1573A>G
NM_001407974.1:c.1573A>G
NM_001407975.1:c.1573A>G
NM_001407976.1:c.1573A>G
NM_001407977.1:c.1573A>G
NM_001407978.1:c.1573A>G
NM_001407979.1:c.1570A>G
NM_001407980.1:c.1570A>G
NM_001407981.1:c.1570A>G
NM_001407982.1:c.1570A>G
NM_001407983.1:c.1570A>G
NM_001407984.1:c.1570A>G
NM_001407985.1:c.1570A>G
NM_001407986.1:c.1570A>G
NM_001407990.1:c.1570A>G
NM_001407991.1:c.1570A>G
NM_001407992.1:c.1570A>G
NM_001407993.1:c.1570A>G
NM_001408392.1:c.1567A>G
NM_001408396.1:c.1567A>G
NM_001408397.1:c.1567A>G
NM_001408398.1:c.1567A>G
NM_001408399.1:c.1567A>G
NM_001408400.1:c.1567A>G
NM_001408401.1:c.1567A>G
NM_001408402.1:c.1567A>G
NM_001408403.1:c.1567A>G
NM_001408404.1:c.1567A>G
NM_001408406.1:c.1564A>G
NM_001408407.1:c.1564A>G
NM_001408408.1:c.1564A>G
NM_001408409.1:c.1561A>G
NM_001408410.1:c.1498A>G
NM_001408411.1:c.1495A>G
NM_001408412.1:c.1492A>G
NM_001408413.1:c.1492A>G
NM_001408414.1:c.1492A>G
NM_001408415.1:c.1492A>G
NM_001408416.1:c.1492A>G
NM_001408418.1:c.1456A>G
NM_001408419.1:c.1456A>G
NM_001408420.1:c.1456A>G
NM_001408421.1:c.1453A>G
NM_001408422.1:c.1453A>G
NM_001408423.1:c.1453A>G
NM_001408424.1:c.1453A>G
NM_001408425.1:c.1450A>G
NM_001408426.1:c.1450A>G
NM_001408427.1:c.1450A>G
NM_001408428.1:c.1450A>G
NM_001408429.1:c.1450A>G
NM_001408430.1:c.1450A>G
NM_001408431.1:c.1450A>G
NM_001408432.1:c.1447A>G
NM_001408433.1:c.1447A>G
NM_001408434.1:c.1447A>G
NM_001408435.1:c.1447A>G
NM_001408436.1:c.1447A>G
NM_001408437.1:c.1447A>G
NM_001408438.1:c.1447A>G
NM_001408439.1:c.1447A>G
NM_001408440.1:c.1447A>G
NM_001408441.1:c.1447A>G
NM_001408442.1:c.1447A>G
NM_001408443.1:c.1447A>G
NM_001408444.1:c.1447A>G
NM_001408445.1:c.1444A>G
NM_001408446.1:c.1444A>G
NM_001408447.1:c.1444A>G
NM_001408448.1:c.1444A>G
NM_001408450.1:c.1444A>G
NM_001408451.1:c.1438A>G
NM_001408452.1:c.1432A>G
NM_001408453.1:c.1432A>G
NM_001408454.1:c.1432A>G
NM_001408455.1:c.1432A>G
NM_001408456.1:c.1432A>G
NM_001408457.1:c.1432A>G
NM_001408458.1:c.1429A>G
NM_001408459.1:c.1429A>G
NM_001408460.1:c.1429A>G
NM_001408461.1:c.1429A>G
NM_001408462.1:c.1429A>G
NM_001408463.1:c.1429A>G
NM_001408464.1:c.1429A>G
NM_001408465.1:c.1429A>G
NM_001408466.1:c.1429A>G
NM_001408467.1:c.1429A>G
NM_001408468.1:c.1426A>G
NM_001408469.1:c.1426A>G
NM_001408470.1:c.1426A>G
NM_001408472.1:c.1570A>G
NM_001408473.1:c.1567A>G
NM_001408474.1:c.1372A>G
NM_001408475.1:c.1369A>G
NM_001408476.1:c.1369A>G
NM_001408478.1:c.1363A>G
NM_001408479.1:c.1363A>G
NM_001408480.1:c.1363A>G
NM_001408481.1:c.1360A>G
NM_001408482.1:c.1360A>G
NM_001408483.1:c.1360A>G
NM_001408484.1:c.1360A>G
NM_001408485.1:c.1360A>G
NM_001408489.1:c.1360A>G
NM_001408490.1:c.1360A>G
NM_001408491.1:c.1360A>G
NM_001408492.1:c.1357A>G
NM_001408493.1:c.1357A>G
NM_001408494.1:c.1333A>G
NM_001408495.1:c.1327A>G
NM_001408496.1:c.1309A>G
NM_001408497.1:c.1309A>G
NM_001408498.1:c.1309A>G
NM_001408499.1:c.1309A>G
NM_001408500.1:c.1309A>G
NM_001408501.1:c.1309A>G
NM_001408502.1:c.1306A>G
NM_001408503.1:c.1306A>G
NM_001408504.1:c.1306A>G
NM_001408505.1:c.1303A>G
NM_001408506.1:c.1246A>G
NM_001408507.1:c.1243A>G
NM_001408508.1:c.1234A>G
NM_001408509.1:c.1231A>G
NM_001408510.1:c.1192A>G
NM_001408511.1:c.1189A>G
NM_001408512.1:c.1069A>G
NM_001408513.1:c.1042A>G
NM_007294.4:c.4882A>GMANE SELECT
NM_007297.4:c.4741A>G
NM_007298.4:c.1570A>G
NM_007299.4:c.1570A>G
NM_007300.4:c.4945A>G
NM_007304.2:c.1570A>G
NP_001394500.1:p.Met1557Val
NP_001394510.1:p.Met1650Val
NP_001394511.1:p.Met1650Val
NP_001394512.1:p.Met1649Val
NP_001394514.1:p.Met1649Val
NP_001394516.1:p.Met1649Val
NP_001394519.1:p.Met1648Val
NP_001394520.1:p.Met1648Val
NP_001394522.1:p.Met1628Val
NP_001394523.1:p.Met1628Val
NP_001394525.1:p.Met1628Val
NP_001394526.1:p.Met1628Val
NP_001394527.1:p.Met1628Val
NP_001394531.1:p.Met1628Val
NP_001394532.1:p.Met1628Val
NP_001394534.1:p.Met1628Val
NP_001394539.1:p.Met1627Val
NP_001394540.1:p.Met1627Val
NP_001394541.1:p.Met1627Val
NP_001394542.1:p.Met1627Val
NP_001394543.1:p.Met1627Val
NP_001394544.1:p.Met1627Val
NP_001394545.1:p.Met1627Val
NP_001394546.1:p.Met1627Val
NP_001394547.1:p.Met1627Val
NP_001394548.1:p.Met1627Val
NP_001394549.1:p.Met1627Val
NP_001394550.1:p.Met1627Val
NP_001394551.1:p.Met1627Val
NP_001394552.1:p.Met1627Val
NP_001394553.1:p.Met1627Val
NP_001394554.1:p.Met1627Val
NP_001394555.1:p.Met1627Val
NP_001394556.1:p.Met1626Val
NP_001394557.1:p.Met1626Val
NP_001394558.1:p.Met1626Val
NP_001394559.1:p.Met1626Val
NP_001394560.1:p.Met1626Val
NP_001394561.1:p.Met1626Val
NP_001394562.1:p.Met1626Val
NP_001394563.1:p.Met1626Val
NP_001394564.1:p.Met1626Val
NP_001394565.1:p.Met1626Val
NP_001394566.1:p.Met1626Val
NP_001394567.1:p.Met1626Val
NP_001394568.1:p.Met1626Val
NP_001394569.1:p.Met1626Val
NP_001394570.1:p.Met1626Val
NP_001394571.1:p.Met1626Val
NP_001394573.1:p.Met1625Val
NP_001394574.1:p.Met1625Val
NP_001394575.1:p.Met1624Val
NP_001394576.1:p.Met1623Val
NP_001394577.1:p.Met1609Val
NP_001394578.1:p.Met1608Val
NP_001394581.1:p.Met1628Val
NP_001394582.1:p.Met1602Val
NP_001394583.1:p.Met1602Val
NP_001394584.1:p.Met1602Val
NP_001394585.1:p.Met1601Val
NP_001394586.1:p.Met1601Val
NP_001394587.1:p.Met1601Val
NP_001394588.1:p.Met1600Val
NP_001394589.1:p.Met1600Val
NP_001394590.1:p.Met1600Val
NP_001394591.1:p.Met1600Val
NP_001394592.1:p.Met1600Val
NP_001394593.1:p.Met1587Val
NP_001394594.1:p.Met1587Val
NP_001394595.1:p.Met1587Val
NP_001394596.1:p.Met1587Val
NP_001394597.1:p.Met1587Val
NP_001394598.1:p.Met1587Val
NP_001394599.1:p.Met1586Val
NP_001394600.1:p.Met1586Val
NP_001394601.1:p.Met1586Val
NP_001394602.1:p.Met1586Val
NP_001394603.1:p.Met1586Val
NP_001394604.1:p.Met1586Val
NP_001394605.1:p.Met1586Val
NP_001394606.1:p.Met1586Val
NP_001394607.1:p.Met1586Val
NP_001394608.1:p.Met1586Val
NP_001394609.1:p.Met1586Val
NP_001394610.1:p.Met1585Val
NP_001394611.1:p.Met1585Val
NP_001394612.1:p.Met1585Val
NP_001394613.1:p.Met1628Val
NP_001394614.1:p.Met1585Val
NP_001394615.1:p.Met1585Val
NP_001394616.1:p.Met1585Val
NP_001394617.1:p.Met1585Val
NP_001394618.1:p.Met1585Val
NP_001394619.1:p.Met1584Val
NP_001394620.1:p.Met1584Val
NP_001394621.1:p.Met1581Val
NP_001394623.1:p.Met1581Val
NP_001394624.1:p.Met1581Val
NP_001394625.1:p.Met1581Val
NP_001394626.1:p.Met1581Val
NP_001394627.1:p.Met1581Val
NP_001394653.1:p.Met1581Val
NP_001394654.1:p.Met1581Val
NP_001394655.1:p.Met1581Val
NP_001394656.1:p.Met1581Val
NP_001394657.1:p.Met1581Val
NP_001394658.1:p.Met1581Val
NP_001394659.1:p.Met1581Val
NP_001394660.1:p.Met1581Val
NP_001394661.1:p.Met1580Val
NP_001394662.1:p.Met1580Val
NP_001394663.1:p.Met1580Val
NP_001394664.1:p.Met1580Val
NP_001394665.1:p.Met1580Val
NP_001394666.1:p.Met1580Val
NP_001394667.1:p.Met1580Val
NP_001394668.1:p.Met1580Val
NP_001394669.1:p.Met1580Val
NP_001394670.1:p.Met1580Val
NP_001394671.1:p.Met1580Val
NP_001394672.1:p.Met1580Val
NP_001394673.1:p.Met1580Val
NP_001394674.1:p.Met1580Val
NP_001394675.1:p.Met1580Val
NP_001394676.1:p.Met1580Val
NP_001394677.1:p.Met1580Val
NP_001394678.1:p.Met1580Val
NP_001394679.1:p.Met1580Val
NP_001394680.1:p.Met1580Val
NP_001394681.1:p.Met1580Val
NP_001394767.1:p.Met1579Val
NP_001394768.1:p.Met1579Val
NP_001394770.1:p.Met1579Val
NP_001394771.1:p.Met1579Val
NP_001394772.1:p.Met1579Val
NP_001394773.1:p.Met1579Val
NP_001394774.1:p.Met1579Val
NP_001394775.1:p.Met1579Val
NP_001394776.1:p.Met1579Val
NP_001394777.1:p.Met1579Val
NP_001394778.1:p.Met1579Val
NP_001394779.1:p.Met1579Val
NP_001394780.1:p.Met1579Val
NP_001394781.1:p.Met1579Val
NP_001394782.1:p.Met1579Val
NP_001394783.1:p.Met1628Val
NP_001394787.1:p.Met1627Val
NP_001394788.1:p.Met1627Val
NP_001394789.1:p.Met1627Val
NP_001394790.1:p.Met1626Val
NP_001394791.1:p.Met1561Val
NP_001394792.1:p.Met1586Val
NP_001394803.1:p.Met1559Val
NP_001394804.1:p.Met1559Val
NP_001394808.1:p.Met1558Val
NP_001394810.1:p.Met1558Val
NP_001394811.1:p.Met1558Val
NP_001394813.1:p.Met1558Val
NP_001394814.1:p.Met1558Val
NP_001394815.1:p.Met1558Val
NP_001394816.1:p.Met1558Val
NP_001394818.1:p.Met1558Val
NP_001394823.1:p.Met1557Val
NP_001394824.1:p.Met1557Val
NP_001394825.1:p.Met1557Val
NP_001394826.1:p.Met1557Val
NP_001394827.1:p.Met1557Val
NP_001394828.1:p.Met1557Val
NP_001394829.1:p.Met1557Val
NP_001394831.1:p.Met1557Val
NP_001394833.1:p.Met1557Val
NP_001394835.1:p.Met1557Val
NP_001394836.1:p.Met1557Val
NP_001394837.1:p.Met1557Val
NP_001394838.1:p.Met1557Val
NP_001394839.1:p.Met1557Val
NP_001394844.1:p.Met1556Val
NP_001394845.1:p.Met1556Val
NP_001394846.1:p.Met1556Val
NP_001394847.1:p.Met1556Val
NP_001394848.1:p.Met1587Val
NP_001394849.1:p.Met1540Val
NP_001394850.1:p.Met1540Val
NP_001394851.1:p.Met1540Val
NP_001394852.1:p.Met1540Val
NP_001394853.1:p.Met1540Val
NP_001394854.1:p.Met1540Val
NP_001394855.1:p.Met1540Val
NP_001394856.1:p.Met1539Val
NP_001394857.1:p.Met1539Val
NP_001394858.1:p.Met1539Val
NP_001394859.1:p.Met1539Val
NP_001394860.1:p.Met1539Val
NP_001394861.1:p.Met1539Val
NP_001394862.1:p.Met1539Val
NP_001394863.1:p.Met1538Val
NP_001394864.1:p.Met1538Val
NP_001394865.1:p.Met1538Val
NP_001394866.1:p.Met1587Val
NP_001394867.1:p.Met1587Val
NP_001394868.1:p.Met1586Val
NP_001394869.1:p.Met1586Val
NP_001394870.1:p.Met1585Val
NP_001394871.1:p.Met1581Val
NP_001394872.1:p.Met1580Val
NP_001394873.1:p.Met1580Val
NP_001394874.1:p.Met1580Val
NP_001394875.1:p.Met1517Val
NP_001394876.1:p.Met1517Val
NP_001394877.1:p.Met1517Val
NP_001394878.1:p.Met1517Val
NP_001394879.1:p.Met1516Val
NP_001394880.1:p.Met1516Val
NP_001394881.1:p.Met1516Val
NP_001394882.1:p.Met1516Val
NP_001394883.1:p.Met1516Val
NP_001394884.1:p.Met1516Val
NP_001394885.1:p.Met1515Val
NP_001394886.1:p.Met1515Val
NP_001394887.1:p.Met1515Val
NP_001394888.1:p.Met1501Val
NP_001394889.1:p.Met1500Val
NP_001394891.1:p.Met1500Val
NP_001394892.1:p.Met1499Val
NP_001394893.1:p.Met1474Val
NP_001394894.1:p.Met1459Val
NP_001394895.1:p.Met1332Val
NP_001394896.1:p.Met1331Val
NP_001394897.1:p.Met760Val
NP_001394898.1:p.Met759Val
NP_001394899.1:p.Met547Val
NP_001394900.1:p.Met547Val
NP_001394901.1:p.Met546Val
NP_001394902.1:p.Met525Val
NP_001394903.1:p.Met525Val
NP_001394904.1:p.Met525Val
NP_001394905.1:p.Met525Val
NP_001394906.1:p.Met525Val
NP_001394907.1:p.Met525Val
NP_001394908.1:p.Met524Val
NP_001394909.1:p.Met524Val
NP_001394910.1:p.Met524Val
NP_001394911.1:p.Met524Val
NP_001394912.1:p.Met524Val
NP_001394913.1:p.Met524Val
NP_001394914.1:p.Met524Val
NP_001394915.1:p.Met524Val
NP_001394919.1:p.Met524Val
NP_001394920.1:p.Met524Val
NP_001394921.1:p.Met524Val
NP_001394922.1:p.Met524Val
NP_001395321.1:p.Met523Val
NP_001395325.1:p.Met523Val
NP_001395326.1:p.Met523Val
NP_001395327.1:p.Met523Val
NP_001395328.1:p.Met523Val
NP_001395329.1:p.Met523Val
NP_001395330.1:p.Met523Val
NP_001395331.1:p.Met523Val
NP_001395332.1:p.Met523Val
NP_001395333.1:p.Met523Val
NP_001395335.1:p.Met522Val
NP_001395336.1:p.Met522Val
NP_001395337.1:p.Met522Val
NP_001395338.1:p.Met521Val
NP_001395339.1:p.Met500Val
NP_001395340.1:p.Met499Val
NP_001395341.1:p.Met498Val
NP_001395342.1:p.Met498Val
NP_001395343.1:p.Met498Val
NP_001395344.1:p.Met498Val
NP_001395345.1:p.Met498Val
NP_001395347.1:p.Met486Val
NP_001395348.1:p.Met486Val
NP_001395349.1:p.Met486Val
NP_001395350.1:p.Met485Val
NP_001395351.1:p.Met485Val
NP_001395352.1:p.Met485Val
NP_001395353.1:p.Met485Val
NP_001395354.1:p.Met484Val
NP_001395355.1:p.Met484Val
NP_001395356.1:p.Met484Val
NP_001395357.1:p.Met484Val
NP_001395358.1:p.Met484Val
NP_001395359.1:p.Met484Val
NP_001395360.1:p.Met484Val
NP_001395361.1:p.Met483Val
NP_001395362.1:p.Met483Val
NP_001395363.1:p.Met483Val
NP_001395364.1:p.Met483Val
NP_001395365.1:p.Met483Val
NP_001395366.1:p.Met483Val
NP_001395367.1:p.Met483Val
NP_001395368.1:p.Met483Val
NP_001395369.1:p.Met483Val
NP_001395370.1:p.Met483Val
NP_001395371.1:p.Met483Val
NP_001395372.1:p.Met483Val
NP_001395373.1:p.Met483Val
NP_001395374.1:p.Met482Val
NP_001395375.1:p.Met482Val
NP_001395376.1:p.Met482Val
NP_001395377.1:p.Met482Val
NP_001395379.1:p.Met482Val
NP_001395380.1:p.Met480Val
NP_001395381.1:p.Met478Val
NP_001395382.1:p.Met478Val
NP_001395383.1:p.Met478Val
NP_001395384.1:p.Met478Val
NP_001395385.1:p.Met478Val
NP_001395386.1:p.Met478Val
NP_001395387.1:p.Met477Val
NP_001395388.1:p.Met477Val
NP_001395389.1:p.Met477Val
NP_001395390.1:p.Met477Val
NP_001395391.1:p.Met477Val
NP_001395392.1:p.Met477Val
NP_001395393.1:p.Met477Val
NP_001395394.1:p.Met477Val
NP_001395395.1:p.Met477Val
NP_001395396.1:p.Met477Val
NP_001395397.1:p.Met476Val
NP_001395398.1:p.Met476Val
NP_001395399.1:p.Met476Val
NP_001395401.1:p.Met524Val
NP_001395402.1:p.Met523Val
NP_001395403.1:p.Met458Val
NP_001395404.1:p.Met457Val
NP_001395405.1:p.Met457Val
NP_001395407.1:p.Met455Val
NP_001395408.1:p.Met455Val
NP_001395409.1:p.Met455Val
NP_001395410.1:p.Met454Val
NP_001395411.1:p.Met454Val
NP_001395412.1:p.Met454Val
NP_001395413.1:p.Met454Val
NP_001395414.1:p.Met454Val
NP_001395418.1:p.Met454Val
NP_001395419.1:p.Met454Val
NP_001395420.1:p.Met454Val
NP_001395421.1:p.Met453Val
NP_001395422.1:p.Met453Val
NP_001395423.1:p.Met445Val
NP_001395424.1:p.Met443Val
NP_001395425.1:p.Met437Val
NP_001395426.1:p.Met437Val
NP_001395427.1:p.Met437Val
NP_001395428.1:p.Met437Val
NP_001395429.1:p.Met437Val
NP_001395430.1:p.Met437Val
NP_001395431.1:p.Met436Val
NP_001395432.1:p.Met436Val
NP_001395433.1:p.Met436Val
NP_001395434.1:p.Met435Val
NP_001395435.1:p.Met416Val
NP_001395436.1:p.Met415Val
NP_001395437.1:p.Met412Val
NP_001395438.1:p.Met411Val
NP_001395439.1:p.Met398Val
NP_001395440.1:p.Met397Val
NP_001395441.1:p.Met357Val
NP_001395442.1:p.Met348Val
NP_009225.1:p.Met1628Val
NP_009225.1:p.Met1628Val
NP_009228.2:p.Met1581Val
NP_009229.2:p.Met524Val
NP_009229.2:p.Met524Val
NP_009230.2:p.Met524Val
NP_009231.2:p.Met1649Val
NP_009235.2:p.Met524Val
LRG_292t1:c.4882A>G
LRG_292:g.146952A>G
LRG_292p1:p.Met1628Val
NC_000017.10:g.41223049T>C
NM_007294.3:c.4882A>G
NM_007297.3:c.4741A>G
NM_007298.3:c.1570A>G
NR_027676.2:n.5059A>G
P38398:p.Met1628Val
U14680.1:n.5001A>G
p.M1628V

Protein change:

M1331V

Links:

UniProtKB: P38398#VAR_007792; dbSNP: rs80357465

NCBI 1000 Genomes Browser:

rs80357465

Molecular consequence:

NM_001407571.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.4870A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.4867A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.4825A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.4822A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.4801A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.4801A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.4801A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.4798A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.4798A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.4798A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.4798A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.4798A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.4750A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.4750A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.4681A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.4666A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.4666A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.4666A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.4666A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.4612A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.4612A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.4612A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.4543A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.4543A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.4543A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.4501A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.4498A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.4498A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.4495A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.4375A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.3994A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.3991A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.2278A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.2275A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.1561A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.1495A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.1456A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.1456A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.1456A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.1453A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.1453A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.1453A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.1453A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.1438A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.1372A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.1369A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.1369A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.1357A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.1357A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.1333A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.1327A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.1303A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408506.1:c.1246A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408507.1:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.1234A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.1231A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408510.1:c.1192A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.1189A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408512.1:c.1069A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408513.1:c.1042A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.5059A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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PIGM [Microcebus murinus]
PIGM [Microcebus murinus]
Gene ID:105862697

Gene
Reynosia septentrionalis (9)
Nucleotide
Bovine viral diarrhea virus 1 isolate JB5 N-terminal autoprotease gene, partial ...
Bovine viral diarrhea virus 1 isolate JB5 N-terminal autoprotease gene, partial cds
gi|1189439109|gb|KY114774.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000209979	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Mar 1, 2017)	germline	clinical testing	Citation Link,
SCV000916723	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Jun 13, 2021)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 15689452, 8776600, 8807330, 22476429, 17922257, 15004537, 25637381, 26780556, 28781887, 30765603, 21447777 Citation Link,
SCV002069973	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Dec 20, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000209979

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Mar 1, 2017)

germline

clinical testing

Citation Link,

SCV000916723

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(Jun 13, 2021)

germline

clinical testing

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

Citation Link,

SCV002069973

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Dec 20, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Classification of BRCA1 missense variants of unknown clinical significance.

Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt RB, van Nesselrooij BP, Chenevix-Trench G, kConFab, Caldes T, de la Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro AN.

J Med Genet. 2005 Feb;42(2):138-46.

PubMed [citation]

PMID:: 15689452
PMCID:: PMC1735988

Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

Durocher F, Shattuck-Eidens D, McClure M, Labrie F, Skolnick MH, Goldgar DE, Simard J.

Hum Mol Genet. 1996 Jun;5(6):835-42.

PubMed [citation]

PMID:: 8776600

See all PubMed Citations (12)

Details of each submission

From GeneDx, SCV000209979.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916723.2

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

Description

Variant summary: BRCA1 c.4882A>G (p.Met1628Val) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251478 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4882A>G has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer (example, Durocher_1996, Troudi_2007, Lu_2012). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Co-occurrences with other pathogenic variant(s) have been observed in the UMD database and at our laboratory (UMD database-BRCA1 c.25G>T, p.Glu9*; our laboratory-BRCA1 c.4357+1G>A), providing supporting evidence for a benign role. Multiple publications report contradictory experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in a loss of transcriptional activation similar to a null allele (Phelan_2005), whereas another study evaluating transcriptional acitivity reported a neutral outcome (Frenandes_2019). Another assay measuring yeast colony size found no difference when compared to a WT control (Coyne_2004). Other reports have classified the variant as a VUS (Iversen_2011), as likely not pathogenic (Woods_2016) based on functional studies.. Eight clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and a predominant consensus leaning towards likely benign (n=6)/benign (n=1) and one submitter reporting a VUS outcome. Some submitters cite overlapping evidence utilized in the context of this evaluation. Based on the evidence outlined above, the variant was classified as benign.

#	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 Genetic Services Laboratory, University of Chicago, SCV002069973.1

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

Description

DNA sequence analysis of the BRCA1 gene demonstrated a sequence change, c.4882A>G, in exon 15 that results in an amino acid change, p.Met1628Val. This sequence change has been described in the gnomAD database with a frequency of 0.004% in European populations (dbSNP rs80357465). The p.Met1628Val change has been identified in one individual with breast and/or ovarian cancer (PMID: 8776600). The p.Met1628Val change affects a poorly conserved amino acid residue located in a domain of the BRCA1 protein that is known to be functional. The p.Met1628Val substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Functional studies demonstrated about 80% of the wild-type protein activity, suggesting this is a neutral variant (PMID: 17311832). We classify this sequence change as likely benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 8, 2024

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