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NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 13, 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:
RCV000468314.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)]

NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)

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.5057A>G (p.His1686Arg)
HGVS:
  • NC_000017.11:g.43067625T>C
  • NG_005905.2:g.150359A>G
  • NM_001407571.1:c.4844A>G
  • NM_001407581.1:c.5123A>G
  • NM_001407582.1:c.5123A>G
  • NM_001407583.1:c.5120A>G
  • NM_001407585.1:c.5120A>G
  • NM_001407587.1:c.5120A>G
  • NM_001407590.1:c.5117A>G
  • NM_001407591.1:c.5117A>G
  • NM_001407593.1:c.5057A>G
  • NM_001407594.1:c.5057A>G
  • NM_001407596.1:c.5057A>G
  • NM_001407597.1:c.5057A>G
  • NM_001407598.1:c.5057A>G
  • NM_001407602.1:c.5057A>G
  • NM_001407603.1:c.5057A>G
  • NM_001407605.1:c.5057A>G
  • NM_001407610.1:c.5054A>G
  • NM_001407611.1:c.5054A>G
  • NM_001407612.1:c.5054A>G
  • NM_001407613.1:c.5054A>G
  • NM_001407614.1:c.5054A>G
  • NM_001407615.1:c.5054A>G
  • NM_001407616.1:c.5054A>G
  • NM_001407617.1:c.5054A>G
  • NM_001407618.1:c.5054A>G
  • NM_001407619.1:c.5054A>G
  • NM_001407620.1:c.5054A>G
  • NM_001407621.1:c.5054A>G
  • NM_001407622.1:c.5054A>G
  • NM_001407623.1:c.5054A>G
  • NM_001407624.1:c.5054A>G
  • NM_001407625.1:c.5054A>G
  • NM_001407626.1:c.5054A>G
  • NM_001407627.1:c.5051A>G
  • NM_001407628.1:c.5051A>G
  • NM_001407629.1:c.5051A>G
  • NM_001407630.1:c.5051A>G
  • NM_001407631.1:c.5051A>G
  • NM_001407632.1:c.5051A>G
  • NM_001407633.1:c.5051A>G
  • NM_001407634.1:c.5051A>G
  • NM_001407635.1:c.5051A>G
  • NM_001407636.1:c.5051A>G
  • NM_001407637.1:c.5051A>G
  • NM_001407638.1:c.5051A>G
  • NM_001407639.1:c.5051A>G
  • NM_001407640.1:c.5051A>G
  • NM_001407641.1:c.5051A>G
  • NM_001407642.1:c.5051A>G
  • NM_001407644.1:c.5048A>G
  • NM_001407645.1:c.5048A>G
  • NM_001407646.1:c.5045A>G
  • NM_001407647.1:c.5042A>G
  • NM_001407648.1:c.5000A>G
  • NM_001407649.1:c.4997A>G
  • NM_001407652.1:c.5057A>G
  • NM_001407653.1:c.4979A>G
  • NM_001407654.1:c.4979A>G
  • NM_001407655.1:c.4979A>G
  • NM_001407656.1:c.4976A>G
  • NM_001407657.1:c.4976A>G
  • NM_001407658.1:c.4976A>G
  • NM_001407659.1:c.4973A>G
  • NM_001407660.1:c.4973A>G
  • NM_001407661.1:c.4973A>G
  • NM_001407662.1:c.4973A>G
  • NM_001407663.1:c.4973A>G
  • NM_001407664.1:c.4934A>G
  • NM_001407665.1:c.4934A>G
  • NM_001407666.1:c.4934A>G
  • NM_001407667.1:c.4934A>G
  • NM_001407668.1:c.4934A>G
  • NM_001407669.1:c.4934A>G
  • NM_001407670.1:c.4931A>G
  • NM_001407671.1:c.4931A>G
  • NM_001407672.1:c.4931A>G
  • NM_001407673.1:c.4931A>G
  • NM_001407674.1:c.4931A>G
  • NM_001407675.1:c.4931A>G
  • NM_001407676.1:c.4931A>G
  • NM_001407677.1:c.4931A>G
  • NM_001407678.1:c.4931A>G
  • NM_001407679.1:c.4931A>G
  • NM_001407680.1:c.4931A>G
  • NM_001407681.1:c.4928A>G
  • NM_001407682.1:c.4928A>G
  • NM_001407683.1:c.4928A>G
  • NM_001407684.1:c.5057A>G
  • NM_001407685.1:c.4928A>G
  • NM_001407686.1:c.4928A>G
  • NM_001407687.1:c.4928A>G
  • NM_001407688.1:c.4928A>G
  • NM_001407689.1:c.4928A>G
  • NM_001407690.1:c.4925A>G
  • NM_001407691.1:c.4925A>G
  • NM_001407692.1:c.4916A>G
  • NM_001407694.1:c.4916A>G
  • NM_001407695.1:c.4916A>G
  • NM_001407696.1:c.4916A>G
  • NM_001407697.1:c.4916A>G
  • NM_001407698.1:c.4916A>G
  • NM_001407724.1:c.4916A>G
  • NM_001407725.1:c.4916A>G
  • NM_001407726.1:c.4916A>G
  • NM_001407727.1:c.4916A>G
  • NM_001407728.1:c.4916A>G
  • NM_001407729.1:c.4916A>G
  • NM_001407730.1:c.4916A>G
  • NM_001407731.1:c.4916A>G
  • NM_001407732.1:c.4913A>G
  • NM_001407733.1:c.4913A>G
  • NM_001407734.1:c.4913A>G
  • NM_001407735.1:c.4913A>G
  • NM_001407736.1:c.4913A>G
  • NM_001407737.1:c.4913A>G
  • NM_001407738.1:c.4913A>G
  • NM_001407739.1:c.4913A>G
  • NM_001407740.1:c.4913A>G
  • NM_001407741.1:c.4913A>G
  • NM_001407742.1:c.4913A>G
  • NM_001407743.1:c.4913A>G
  • NM_001407744.1:c.4913A>G
  • NM_001407745.1:c.4913A>G
  • NM_001407746.1:c.4913A>G
  • NM_001407747.1:c.4913A>G
  • NM_001407748.1:c.4913A>G
  • NM_001407749.1:c.4913A>G
  • NM_001407750.1:c.4913A>G
  • NM_001407751.1:c.4913A>G
  • NM_001407752.1:c.4913A>G
  • NM_001407838.1:c.4910A>G
  • NM_001407839.1:c.4910A>G
  • NM_001407841.1:c.4910A>G
  • NM_001407842.1:c.4910A>G
  • NM_001407843.1:c.4910A>G
  • NM_001407844.1:c.4910A>G
  • NM_001407845.1:c.4910A>G
  • NM_001407846.1:c.4910A>G
  • NM_001407847.1:c.4910A>G
  • NM_001407848.1:c.4910A>G
  • NM_001407849.1:c.4910A>G
  • NM_001407850.1:c.4910A>G
  • NM_001407851.1:c.4910A>G
  • NM_001407852.1:c.4910A>G
  • NM_001407853.1:c.4910A>G
  • NM_001407854.1:c.5057A>G
  • NM_001407858.1:c.5054A>G
  • NM_001407859.1:c.5054A>G
  • NM_001407860.1:c.5054A>G
  • NM_001407861.1:c.5051A>G
  • NM_001407862.1:c.4856A>G
  • NM_001407863.1:c.4931A>G
  • NM_001407874.1:c.4850A>G
  • NM_001407875.1:c.4850A>G
  • NM_001407879.1:c.4847A>G
  • NM_001407881.1:c.4847A>G
  • NM_001407882.1:c.4847A>G
  • NM_001407884.1:c.4847A>G
  • NM_001407885.1:c.4847A>G
  • NM_001407886.1:c.4847A>G
  • NM_001407887.1:c.4847A>G
  • NM_001407889.1:c.4847A>G
  • NM_001407894.1:c.4844A>G
  • NM_001407895.1:c.4844A>G
  • NM_001407896.1:c.4844A>G
  • NM_001407897.1:c.4844A>G
  • NM_001407898.1:c.4844A>G
  • NM_001407899.1:c.4844A>G
  • NM_001407900.1:c.4844A>G
  • NM_001407902.1:c.4844A>G
  • NM_001407904.1:c.4844A>G
  • NM_001407906.1:c.4844A>G
  • NM_001407907.1:c.4844A>G
  • NM_001407908.1:c.4844A>G
  • NM_001407909.1:c.4844A>G
  • NM_001407910.1:c.4844A>G
  • NM_001407915.1:c.4841A>G
  • NM_001407916.1:c.4841A>G
  • NM_001407917.1:c.4841A>G
  • NM_001407918.1:c.4841A>G
  • NM_001407919.1:c.4934A>G
  • NM_001407920.1:c.4793A>G
  • NM_001407921.1:c.4793A>G
  • NM_001407922.1:c.4793A>G
  • NM_001407923.1:c.4793A>G
  • NM_001407924.1:c.4793A>G
  • NM_001407925.1:c.4793A>G
  • NM_001407926.1:c.4793A>G
  • NM_001407927.1:c.4790A>G
  • NM_001407928.1:c.4790A>G
  • NM_001407929.1:c.4790A>G
  • NM_001407930.1:c.4790A>G
  • NM_001407931.1:c.4790A>G
  • NM_001407932.1:c.4790A>G
  • NM_001407933.1:c.4790A>G
  • NM_001407934.1:c.4787A>G
  • NM_001407935.1:c.4787A>G
  • NM_001407936.1:c.4787A>G
  • NM_001407937.1:c.4934A>G
  • NM_001407938.1:c.4934A>G
  • NM_001407939.1:c.4931A>G
  • NM_001407940.1:c.4931A>G
  • NM_001407941.1:c.4928A>G
  • NM_001407942.1:c.4916A>G
  • NM_001407943.1:c.4913A>G
  • NM_001407944.1:c.4913A>G
  • NM_001407945.1:c.4913A>G
  • NM_001407946.1:c.4724A>G
  • NM_001407947.1:c.4724A>G
  • NM_001407948.1:c.4724A>G
  • NM_001407949.1:c.4724A>G
  • NM_001407950.1:c.4721A>G
  • NM_001407951.1:c.4721A>G
  • NM_001407952.1:c.4721A>G
  • NM_001407953.1:c.4721A>G
  • NM_001407954.1:c.4721A>G
  • NM_001407955.1:c.4721A>G
  • NM_001407956.1:c.4718A>G
  • NM_001407957.1:c.4718A>G
  • NM_001407958.1:c.4718A>G
  • NM_001407959.1:c.4676A>G
  • NM_001407960.1:c.4673A>G
  • NM_001407962.1:c.4673A>G
  • NM_001407963.1:c.4670A>G
  • NM_001407964.1:c.4595A>G
  • NM_001407965.1:c.4550A>G
  • NM_001407966.1:c.4169A>G
  • NM_001407967.1:c.4166A>G
  • NM_001407968.1:c.2453A>G
  • NM_001407969.1:c.2450A>G
  • NM_001407970.1:c.1814A>G
  • NM_001407971.1:c.1814A>G
  • NM_001407972.1:c.1811A>G
  • NM_001407973.1:c.1748A>G
  • NM_001407974.1:c.1748A>G
  • NM_001407975.1:c.1748A>G
  • NM_001407976.1:c.1748A>G
  • NM_001407977.1:c.1748A>G
  • NM_001407978.1:c.1748A>G
  • NM_001407979.1:c.1745A>G
  • NM_001407980.1:c.1745A>G
  • NM_001407981.1:c.1745A>G
  • NM_001407982.1:c.1745A>G
  • NM_001407983.1:c.1745A>G
  • NM_001407984.1:c.1745A>G
  • NM_001407985.1:c.1745A>G
  • NM_001407986.1:c.1745A>G
  • NM_001407990.1:c.1745A>G
  • NM_001407991.1:c.1745A>G
  • NM_001407992.1:c.1745A>G
  • NM_001407993.1:c.1745A>G
  • NM_001408392.1:c.1742A>G
  • NM_001408396.1:c.1742A>G
  • NM_001408397.1:c.1742A>G
  • NM_001408398.1:c.1742A>G
  • NM_001408399.1:c.1742A>G
  • NM_001408400.1:c.1742A>G
  • NM_001408401.1:c.1742A>G
  • NM_001408402.1:c.1742A>G
  • NM_001408403.1:c.1742A>G
  • NM_001408404.1:c.1742A>G
  • NM_001408406.1:c.1739A>G
  • NM_001408407.1:c.1739A>G
  • NM_001408408.1:c.1739A>G
  • NM_001408409.1:c.1736A>G
  • NM_001408410.1:c.1673A>G
  • NM_001408411.1:c.1670A>G
  • NM_001408412.1:c.1667A>G
  • NM_001408413.1:c.1667A>G
  • NM_001408414.1:c.1667A>G
  • NM_001408415.1:c.1667A>G
  • NM_001408416.1:c.1667A>G
  • NM_001408418.1:c.1631A>G
  • NM_001408419.1:c.1631A>G
  • NM_001408420.1:c.1631A>G
  • NM_001408421.1:c.1628A>G
  • NM_001408422.1:c.1628A>G
  • NM_001408423.1:c.1628A>G
  • NM_001408424.1:c.1628A>G
  • NM_001408425.1:c.1625A>G
  • NM_001408426.1:c.1625A>G
  • NM_001408427.1:c.1625A>G
  • NM_001408428.1:c.1625A>G
  • NM_001408429.1:c.1625A>G
  • NM_001408430.1:c.1625A>G
  • NM_001408431.1:c.1625A>G
  • NM_001408432.1:c.1622A>G
  • NM_001408433.1:c.1622A>G
  • NM_001408434.1:c.1622A>G
  • NM_001408435.1:c.1622A>G
  • NM_001408436.1:c.1622A>G
  • NM_001408437.1:c.1622A>G
  • NM_001408438.1:c.1622A>G
  • NM_001408439.1:c.1622A>G
  • NM_001408440.1:c.1622A>G
  • NM_001408441.1:c.1622A>G
  • NM_001408442.1:c.1622A>G
  • NM_001408443.1:c.1622A>G
  • NM_001408444.1:c.1622A>G
  • NM_001408445.1:c.1619A>G
  • NM_001408446.1:c.1619A>G
  • NM_001408447.1:c.1619A>G
  • NM_001408448.1:c.1619A>G
  • NM_001408450.1:c.1619A>G
  • NM_001408451.1:c.1613A>G
  • NM_001408452.1:c.1607A>G
  • NM_001408453.1:c.1607A>G
  • NM_001408454.1:c.1607A>G
  • NM_001408455.1:c.1607A>G
  • NM_001408456.1:c.1607A>G
  • NM_001408457.1:c.1607A>G
  • NM_001408458.1:c.1604A>G
  • NM_001408459.1:c.1604A>G
  • NM_001408460.1:c.1604A>G
  • NM_001408461.1:c.1604A>G
  • NM_001408462.1:c.1604A>G
  • NM_001408463.1:c.1604A>G
  • NM_001408464.1:c.1604A>G
  • NM_001408465.1:c.1604A>G
  • NM_001408466.1:c.1604A>G
  • NM_001408467.1:c.1604A>G
  • NM_001408468.1:c.1601A>G
  • NM_001408469.1:c.1601A>G
  • NM_001408470.1:c.1601A>G
  • NM_001408472.1:c.1745A>G
  • NM_001408473.1:c.1742A>G
  • NM_001408474.1:c.1547A>G
  • NM_001408475.1:c.1544A>G
  • NM_001408476.1:c.1544A>G
  • NM_001408478.1:c.1538A>G
  • NM_001408479.1:c.1538A>G
  • NM_001408480.1:c.1538A>G
  • NM_001408481.1:c.1535A>G
  • NM_001408482.1:c.1535A>G
  • NM_001408483.1:c.1535A>G
  • NM_001408484.1:c.1535A>G
  • NM_001408485.1:c.1535A>G
  • NM_001408489.1:c.1535A>G
  • NM_001408490.1:c.1535A>G
  • NM_001408491.1:c.1535A>G
  • NM_001408492.1:c.1532A>G
  • NM_001408493.1:c.1532A>G
  • NM_001408494.1:c.1508A>G
  • NM_001408495.1:c.1502A>G
  • NM_001408496.1:c.1484A>G
  • NM_001408497.1:c.1484A>G
  • NM_001408498.1:c.1484A>G
  • NM_001408499.1:c.1484A>G
  • NM_001408500.1:c.1484A>G
  • NM_001408501.1:c.1484A>G
  • NM_001408502.1:c.1481A>G
  • NM_001408503.1:c.1481A>G
  • NM_001408504.1:c.1481A>G
  • NM_001408505.1:c.1478A>G
  • NM_001408506.1:c.1421A>G
  • NM_001408507.1:c.1418A>G
  • NM_001408508.1:c.1409A>G
  • NM_001408509.1:c.1406A>G
  • NM_001408510.1:c.1367A>G
  • NM_001408511.1:c.1364A>G
  • NM_001408512.1:c.1244A>G
  • NM_001408513.1:c.1217A>G
  • NM_007294.4:c.5057A>GMANE SELECT
  • NM_007297.4:c.4916A>G
  • NM_007298.4:c.1745A>G
  • NM_007299.4:c.1745A>G
  • NM_007300.4:c.5120A>G
  • NM_007304.2:c.1745A>G
  • NP_001394500.1:p.His1615Arg
  • NP_001394510.1:p.His1708Arg
  • NP_001394511.1:p.His1708Arg
  • NP_001394512.1:p.His1707Arg
  • NP_001394514.1:p.His1707Arg
  • NP_001394516.1:p.His1707Arg
  • NP_001394519.1:p.His1706Arg
  • NP_001394520.1:p.His1706Arg
  • NP_001394522.1:p.His1686Arg
  • NP_001394523.1:p.His1686Arg
  • NP_001394525.1:p.His1686Arg
  • NP_001394526.1:p.His1686Arg
  • NP_001394527.1:p.His1686Arg
  • NP_001394531.1:p.His1686Arg
  • NP_001394532.1:p.His1686Arg
  • NP_001394534.1:p.His1686Arg
  • NP_001394539.1:p.His1685Arg
  • NP_001394540.1:p.His1685Arg
  • NP_001394541.1:p.His1685Arg
  • NP_001394542.1:p.His1685Arg
  • NP_001394543.1:p.His1685Arg
  • NP_001394544.1:p.His1685Arg
  • NP_001394545.1:p.His1685Arg
  • NP_001394546.1:p.His1685Arg
  • NP_001394547.1:p.His1685Arg
  • NP_001394548.1:p.His1685Arg
  • NP_001394549.1:p.His1685Arg
  • NP_001394550.1:p.His1685Arg
  • NP_001394551.1:p.His1685Arg
  • NP_001394552.1:p.His1685Arg
  • NP_001394553.1:p.His1685Arg
  • NP_001394554.1:p.His1685Arg
  • NP_001394555.1:p.His1685Arg
  • NP_001394556.1:p.His1684Arg
  • NP_001394557.1:p.His1684Arg
  • NP_001394558.1:p.His1684Arg
  • NP_001394559.1:p.His1684Arg
  • NP_001394560.1:p.His1684Arg
  • NP_001394561.1:p.His1684Arg
  • NP_001394562.1:p.His1684Arg
  • NP_001394563.1:p.His1684Arg
  • NP_001394564.1:p.His1684Arg
  • NP_001394565.1:p.His1684Arg
  • NP_001394566.1:p.His1684Arg
  • NP_001394567.1:p.His1684Arg
  • NP_001394568.1:p.His1684Arg
  • NP_001394569.1:p.His1684Arg
  • NP_001394570.1:p.His1684Arg
  • NP_001394571.1:p.His1684Arg
  • NP_001394573.1:p.His1683Arg
  • NP_001394574.1:p.His1683Arg
  • NP_001394575.1:p.His1682Arg
  • NP_001394576.1:p.His1681Arg
  • NP_001394577.1:p.His1667Arg
  • NP_001394578.1:p.His1666Arg
  • NP_001394581.1:p.His1686Arg
  • NP_001394582.1:p.His1660Arg
  • NP_001394583.1:p.His1660Arg
  • NP_001394584.1:p.His1660Arg
  • NP_001394585.1:p.His1659Arg
  • NP_001394586.1:p.His1659Arg
  • NP_001394587.1:p.His1659Arg
  • NP_001394588.1:p.His1658Arg
  • NP_001394589.1:p.His1658Arg
  • NP_001394590.1:p.His1658Arg
  • NP_001394591.1:p.His1658Arg
  • NP_001394592.1:p.His1658Arg
  • NP_001394593.1:p.His1645Arg
  • NP_001394594.1:p.His1645Arg
  • NP_001394595.1:p.His1645Arg
  • NP_001394596.1:p.His1645Arg
  • NP_001394597.1:p.His1645Arg
  • NP_001394598.1:p.His1645Arg
  • NP_001394599.1:p.His1644Arg
  • NP_001394600.1:p.His1644Arg
  • NP_001394601.1:p.His1644Arg
  • NP_001394602.1:p.His1644Arg
  • NP_001394603.1:p.His1644Arg
  • NP_001394604.1:p.His1644Arg
  • NP_001394605.1:p.His1644Arg
  • NP_001394606.1:p.His1644Arg
  • NP_001394607.1:p.His1644Arg
  • NP_001394608.1:p.His1644Arg
  • NP_001394609.1:p.His1644Arg
  • NP_001394610.1:p.His1643Arg
  • NP_001394611.1:p.His1643Arg
  • NP_001394612.1:p.His1643Arg
  • NP_001394613.1:p.His1686Arg
  • NP_001394614.1:p.His1643Arg
  • NP_001394615.1:p.His1643Arg
  • NP_001394616.1:p.His1643Arg
  • NP_001394617.1:p.His1643Arg
  • NP_001394618.1:p.His1643Arg
  • NP_001394619.1:p.His1642Arg
  • NP_001394620.1:p.His1642Arg
  • NP_001394621.1:p.His1639Arg
  • NP_001394623.1:p.His1639Arg
  • NP_001394624.1:p.His1639Arg
  • NP_001394625.1:p.His1639Arg
  • NP_001394626.1:p.His1639Arg
  • NP_001394627.1:p.His1639Arg
  • NP_001394653.1:p.His1639Arg
  • NP_001394654.1:p.His1639Arg
  • NP_001394655.1:p.His1639Arg
  • NP_001394656.1:p.His1639Arg
  • NP_001394657.1:p.His1639Arg
  • NP_001394658.1:p.His1639Arg
  • NP_001394659.1:p.His1639Arg
  • NP_001394660.1:p.His1639Arg
  • NP_001394661.1:p.His1638Arg
  • NP_001394662.1:p.His1638Arg
  • NP_001394663.1:p.His1638Arg
  • NP_001394664.1:p.His1638Arg
  • NP_001394665.1:p.His1638Arg
  • NP_001394666.1:p.His1638Arg
  • NP_001394667.1:p.His1638Arg
  • NP_001394668.1:p.His1638Arg
  • NP_001394669.1:p.His1638Arg
  • NP_001394670.1:p.His1638Arg
  • NP_001394671.1:p.His1638Arg
  • NP_001394672.1:p.His1638Arg
  • NP_001394673.1:p.His1638Arg
  • NP_001394674.1:p.His1638Arg
  • NP_001394675.1:p.His1638Arg
  • NP_001394676.1:p.His1638Arg
  • NP_001394677.1:p.His1638Arg
  • NP_001394678.1:p.His1638Arg
  • NP_001394679.1:p.His1638Arg
  • NP_001394680.1:p.His1638Arg
  • NP_001394681.1:p.His1638Arg
  • NP_001394767.1:p.His1637Arg
  • NP_001394768.1:p.His1637Arg
  • NP_001394770.1:p.His1637Arg
  • NP_001394771.1:p.His1637Arg
  • NP_001394772.1:p.His1637Arg
  • NP_001394773.1:p.His1637Arg
  • NP_001394774.1:p.His1637Arg
  • NP_001394775.1:p.His1637Arg
  • NP_001394776.1:p.His1637Arg
  • NP_001394777.1:p.His1637Arg
  • NP_001394778.1:p.His1637Arg
  • NP_001394779.1:p.His1637Arg
  • NP_001394780.1:p.His1637Arg
  • NP_001394781.1:p.His1637Arg
  • NP_001394782.1:p.His1637Arg
  • NP_001394783.1:p.His1686Arg
  • NP_001394787.1:p.His1685Arg
  • NP_001394788.1:p.His1685Arg
  • NP_001394789.1:p.His1685Arg
  • NP_001394790.1:p.His1684Arg
  • NP_001394791.1:p.His1619Arg
  • NP_001394792.1:p.His1644Arg
  • NP_001394803.1:p.His1617Arg
  • NP_001394804.1:p.His1617Arg
  • NP_001394808.1:p.His1616Arg
  • NP_001394810.1:p.His1616Arg
  • NP_001394811.1:p.His1616Arg
  • NP_001394813.1:p.His1616Arg
  • NP_001394814.1:p.His1616Arg
  • NP_001394815.1:p.His1616Arg
  • NP_001394816.1:p.His1616Arg
  • NP_001394818.1:p.His1616Arg
  • NP_001394823.1:p.His1615Arg
  • NP_001394824.1:p.His1615Arg
  • NP_001394825.1:p.His1615Arg
  • NP_001394826.1:p.His1615Arg
  • NP_001394827.1:p.His1615Arg
  • NP_001394828.1:p.His1615Arg
  • NP_001394829.1:p.His1615Arg
  • NP_001394831.1:p.His1615Arg
  • NP_001394833.1:p.His1615Arg
  • NP_001394835.1:p.His1615Arg
  • NP_001394836.1:p.His1615Arg
  • NP_001394837.1:p.His1615Arg
  • NP_001394838.1:p.His1615Arg
  • NP_001394839.1:p.His1615Arg
  • NP_001394844.1:p.His1614Arg
  • NP_001394845.1:p.His1614Arg
  • NP_001394846.1:p.His1614Arg
  • NP_001394847.1:p.His1614Arg
  • NP_001394848.1:p.His1645Arg
  • NP_001394849.1:p.His1598Arg
  • NP_001394850.1:p.His1598Arg
  • NP_001394851.1:p.His1598Arg
  • NP_001394852.1:p.His1598Arg
  • NP_001394853.1:p.His1598Arg
  • NP_001394854.1:p.His1598Arg
  • NP_001394855.1:p.His1598Arg
  • NP_001394856.1:p.His1597Arg
  • NP_001394857.1:p.His1597Arg
  • NP_001394858.1:p.His1597Arg
  • NP_001394859.1:p.His1597Arg
  • NP_001394860.1:p.His1597Arg
  • NP_001394861.1:p.His1597Arg
  • NP_001394862.1:p.His1597Arg
  • NP_001394863.1:p.His1596Arg
  • NP_001394864.1:p.His1596Arg
  • NP_001394865.1:p.His1596Arg
  • NP_001394866.1:p.His1645Arg
  • NP_001394867.1:p.His1645Arg
  • NP_001394868.1:p.His1644Arg
  • NP_001394869.1:p.His1644Arg
  • NP_001394870.1:p.His1643Arg
  • NP_001394871.1:p.His1639Arg
  • NP_001394872.1:p.His1638Arg
  • NP_001394873.1:p.His1638Arg
  • NP_001394874.1:p.His1638Arg
  • NP_001394875.1:p.His1575Arg
  • NP_001394876.1:p.His1575Arg
  • NP_001394877.1:p.His1575Arg
  • NP_001394878.1:p.His1575Arg
  • NP_001394879.1:p.His1574Arg
  • NP_001394880.1:p.His1574Arg
  • NP_001394881.1:p.His1574Arg
  • NP_001394882.1:p.His1574Arg
  • NP_001394883.1:p.His1574Arg
  • NP_001394884.1:p.His1574Arg
  • NP_001394885.1:p.His1573Arg
  • NP_001394886.1:p.His1573Arg
  • NP_001394887.1:p.His1573Arg
  • NP_001394888.1:p.His1559Arg
  • NP_001394889.1:p.His1558Arg
  • NP_001394891.1:p.His1558Arg
  • NP_001394892.1:p.His1557Arg
  • NP_001394893.1:p.His1532Arg
  • NP_001394894.1:p.His1517Arg
  • NP_001394895.1:p.His1390Arg
  • NP_001394896.1:p.His1389Arg
  • NP_001394897.1:p.His818Arg
  • NP_001394898.1:p.His817Arg
  • NP_001394899.1:p.His605Arg
  • NP_001394900.1:p.His605Arg
  • NP_001394901.1:p.His604Arg
  • NP_001394902.1:p.His583Arg
  • NP_001394903.1:p.His583Arg
  • NP_001394904.1:p.His583Arg
  • NP_001394905.1:p.His583Arg
  • NP_001394906.1:p.His583Arg
  • NP_001394907.1:p.His583Arg
  • NP_001394908.1:p.His582Arg
  • NP_001394909.1:p.His582Arg
  • NP_001394910.1:p.His582Arg
  • NP_001394911.1:p.His582Arg
  • NP_001394912.1:p.His582Arg
  • NP_001394913.1:p.His582Arg
  • NP_001394914.1:p.His582Arg
  • NP_001394915.1:p.His582Arg
  • NP_001394919.1:p.His582Arg
  • NP_001394920.1:p.His582Arg
  • NP_001394921.1:p.His582Arg
  • NP_001394922.1:p.His582Arg
  • NP_001395321.1:p.His581Arg
  • NP_001395325.1:p.His581Arg
  • NP_001395326.1:p.His581Arg
  • NP_001395327.1:p.His581Arg
  • NP_001395328.1:p.His581Arg
  • NP_001395329.1:p.His581Arg
  • NP_001395330.1:p.His581Arg
  • NP_001395331.1:p.His581Arg
  • NP_001395332.1:p.His581Arg
  • NP_001395333.1:p.His581Arg
  • NP_001395335.1:p.His580Arg
  • NP_001395336.1:p.His580Arg
  • NP_001395337.1:p.His580Arg
  • NP_001395338.1:p.His579Arg
  • NP_001395339.1:p.His558Arg
  • NP_001395340.1:p.His557Arg
  • NP_001395341.1:p.His556Arg
  • NP_001395342.1:p.His556Arg
  • NP_001395343.1:p.His556Arg
  • NP_001395344.1:p.His556Arg
  • NP_001395345.1:p.His556Arg
  • NP_001395347.1:p.His544Arg
  • NP_001395348.1:p.His544Arg
  • NP_001395349.1:p.His544Arg
  • NP_001395350.1:p.His543Arg
  • NP_001395351.1:p.His543Arg
  • NP_001395352.1:p.His543Arg
  • NP_001395353.1:p.His543Arg
  • NP_001395354.1:p.His542Arg
  • NP_001395355.1:p.His542Arg
  • NP_001395356.1:p.His542Arg
  • NP_001395357.1:p.His542Arg
  • NP_001395358.1:p.His542Arg
  • NP_001395359.1:p.His542Arg
  • NP_001395360.1:p.His542Arg
  • NP_001395361.1:p.His541Arg
  • NP_001395362.1:p.His541Arg
  • NP_001395363.1:p.His541Arg
  • NP_001395364.1:p.His541Arg
  • NP_001395365.1:p.His541Arg
  • NP_001395366.1:p.His541Arg
  • NP_001395367.1:p.His541Arg
  • NP_001395368.1:p.His541Arg
  • NP_001395369.1:p.His541Arg
  • NP_001395370.1:p.His541Arg
  • NP_001395371.1:p.His541Arg
  • NP_001395372.1:p.His541Arg
  • NP_001395373.1:p.His541Arg
  • NP_001395374.1:p.His540Arg
  • NP_001395375.1:p.His540Arg
  • NP_001395376.1:p.His540Arg
  • NP_001395377.1:p.His540Arg
  • NP_001395379.1:p.His540Arg
  • NP_001395380.1:p.His538Arg
  • NP_001395381.1:p.His536Arg
  • NP_001395382.1:p.His536Arg
  • NP_001395383.1:p.His536Arg
  • NP_001395384.1:p.His536Arg
  • NP_001395385.1:p.His536Arg
  • NP_001395386.1:p.His536Arg
  • NP_001395387.1:p.His535Arg
  • NP_001395388.1:p.His535Arg
  • NP_001395389.1:p.His535Arg
  • NP_001395390.1:p.His535Arg
  • NP_001395391.1:p.His535Arg
  • NP_001395392.1:p.His535Arg
  • NP_001395393.1:p.His535Arg
  • NP_001395394.1:p.His535Arg
  • NP_001395395.1:p.His535Arg
  • NP_001395396.1:p.His535Arg
  • NP_001395397.1:p.His534Arg
  • NP_001395398.1:p.His534Arg
  • NP_001395399.1:p.His534Arg
  • NP_001395401.1:p.His582Arg
  • NP_001395402.1:p.His581Arg
  • NP_001395403.1:p.His516Arg
  • NP_001395404.1:p.His515Arg
  • NP_001395405.1:p.His515Arg
  • NP_001395407.1:p.His513Arg
  • NP_001395408.1:p.His513Arg
  • NP_001395409.1:p.His513Arg
  • NP_001395410.1:p.His512Arg
  • NP_001395411.1:p.His512Arg
  • NP_001395412.1:p.His512Arg
  • NP_001395413.1:p.His512Arg
  • NP_001395414.1:p.His512Arg
  • NP_001395418.1:p.His512Arg
  • NP_001395419.1:p.His512Arg
  • NP_001395420.1:p.His512Arg
  • NP_001395421.1:p.His511Arg
  • NP_001395422.1:p.His511Arg
  • NP_001395423.1:p.His503Arg
  • NP_001395424.1:p.His501Arg
  • NP_001395425.1:p.His495Arg
  • NP_001395426.1:p.His495Arg
  • NP_001395427.1:p.His495Arg
  • NP_001395428.1:p.His495Arg
  • NP_001395429.1:p.His495Arg
  • NP_001395430.1:p.His495Arg
  • NP_001395431.1:p.His494Arg
  • NP_001395432.1:p.His494Arg
  • NP_001395433.1:p.His494Arg
  • NP_001395434.1:p.His493Arg
  • NP_001395435.1:p.His474Arg
  • NP_001395436.1:p.His473Arg
  • NP_001395437.1:p.His470Arg
  • NP_001395438.1:p.His469Arg
  • NP_001395439.1:p.His456Arg
  • NP_001395440.1:p.His455Arg
  • NP_001395441.1:p.His415Arg
  • NP_001395442.1:p.His406Arg
  • NP_009225.1:p.His1686Arg
  • NP_009225.1:p.His1686Arg
  • NP_009228.2:p.His1639Arg
  • NP_009229.2:p.His582Arg
  • NP_009229.2:p.His582Arg
  • NP_009230.2:p.His582Arg
  • NP_009231.2:p.His1707Arg
  • NP_009235.2:p.His582Arg
  • LRG_292t1:c.5057A>G
  • LRG_292:g.150359A>G
  • LRG_292p1:p.His1686Arg
  • NC_000017.10:g.41219642T>C
  • NM_007294.3:c.5057A>G
  • NM_007298.3:c.1745A>G
  • NR_027676.2:n.5234A>G
  • P38398:p.His1686Arg
Protein change:
H1389R
Links:
UniProtKB: P38398#VAR_070498; dbSNP: rs730882166
NCBI 1000 Genomes Browser:
rs730882166
Molecular consequence:
  • NM_001407571.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5123A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5123A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5120A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5120A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5120A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5117A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5117A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5048A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5048A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5045A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5042A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4979A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4979A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4979A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4976A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4976A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4976A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4925A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4925A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4718A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4718A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4718A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4673A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4673A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4670A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4595A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4550A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4169A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4166A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2453A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2450A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1814A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1814A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1811A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1739A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1739A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1739A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1736A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1673A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1670A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1631A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1631A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1631A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1628A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1628A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1628A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1628A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1613A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1547A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1532A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1532A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1508A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1502A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1481A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1481A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1481A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1478A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1409A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1406A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1367A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5120A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5234A>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000549351Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 13, 2023) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation.

Carvalho MA, Billack B, Chan E, Worley T, Cayanan C, Monteiro AN.

Cancer Biol Ther. 2002 Sep-Oct;1(5):502-8.

PubMed [citation]
PMID:
12496477

Clinical classification of BRCA1 DNA missense variants: H1686Q is a novel pathogenic mutation occurring in the ontogenetically invariant THV motif of the N-terminal BRCT domain.

Giannini G, Capalbo C, Ottini L, Buffone A, De Marchis L, Margaria E, Vitolo D, Ricevuto E, Rinaldi C, Zani M, Ferraro S, Marchetti P, Cortesi E, Frati L, Screpanti I, Gulino A.

J Clin Oncol. 2008 Sep 1;26(25):4212-4; author reply 4214-5. doi: 10.1200/JCO.2008.18.2089. No abstract available.

PubMed [citation]
PMID:
18757339
See all PubMed Citations (8)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000549351.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

This variant disrupts the p.His1686 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12496477, 18757339, 26306726, 30209399). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 23867111, 30209399). 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: 183179). This missense change has been observed in individual(s) with breast cancer (PMID: 25452441, 28993434; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1686 of the BRCA1 protein (p.His1686Arg).

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

Last Updated: Oct 8, 2024