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NM_007294.4(BRCA1):c.4853A>G (p.His1618Arg) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 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:
RCV003327428.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.4853A>G (p.His1618Arg)]

NM_007294.4(BRCA1):c.4853A>G (p.His1618Arg)

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.4853A>G (p.His1618Arg)
HGVS:
  • NC_000017.11:g.43071061T>C
  • NG_005905.2:g.146923A>G
  • NM_001407571.1:c.4640A>G
  • NM_001407581.1:c.4919A>G
  • NM_001407582.1:c.4919A>G
  • NM_001407583.1:c.4916A>G
  • NM_001407585.1:c.4916A>G
  • NM_001407587.1:c.4916A>G
  • NM_001407590.1:c.4913A>G
  • NM_001407591.1:c.4913A>G
  • NM_001407593.1:c.4853A>G
  • NM_001407594.1:c.4853A>G
  • NM_001407596.1:c.4853A>G
  • NM_001407597.1:c.4853A>G
  • NM_001407598.1:c.4853A>G
  • NM_001407602.1:c.4853A>G
  • NM_001407603.1:c.4853A>G
  • NM_001407605.1:c.4853A>G
  • NM_001407610.1:c.4850A>G
  • NM_001407611.1:c.4850A>G
  • NM_001407612.1:c.4850A>G
  • NM_001407613.1:c.4850A>G
  • NM_001407614.1:c.4850A>G
  • NM_001407615.1:c.4850A>G
  • NM_001407616.1:c.4850A>G
  • NM_001407617.1:c.4850A>G
  • NM_001407618.1:c.4850A>G
  • NM_001407619.1:c.4850A>G
  • NM_001407620.1:c.4850A>G
  • NM_001407621.1:c.4850A>G
  • NM_001407622.1:c.4850A>G
  • NM_001407623.1:c.4850A>G
  • NM_001407624.1:c.4850A>G
  • NM_001407625.1:c.4850A>G
  • NM_001407626.1:c.4850A>G
  • NM_001407627.1:c.4847A>G
  • NM_001407628.1:c.4847A>G
  • NM_001407629.1:c.4847A>G
  • NM_001407630.1:c.4847A>G
  • NM_001407631.1:c.4847A>G
  • NM_001407632.1:c.4847A>G
  • NM_001407633.1:c.4847A>G
  • NM_001407634.1:c.4847A>G
  • NM_001407635.1:c.4847A>G
  • NM_001407636.1:c.4847A>G
  • NM_001407637.1:c.4847A>G
  • NM_001407638.1:c.4847A>G
  • NM_001407639.1:c.4847A>G
  • NM_001407640.1:c.4847A>G
  • NM_001407641.1:c.4847A>G
  • NM_001407642.1:c.4847A>G
  • NM_001407644.1:c.4844A>G
  • NM_001407645.1:c.4844A>G
  • NM_001407646.1:c.4841A>G
  • NM_001407647.1:c.4838A>G
  • NM_001407648.1:c.4796A>G
  • NM_001407649.1:c.4793A>G
  • NM_001407652.1:c.4853A>G
  • NM_001407653.1:c.4775A>G
  • NM_001407654.1:c.4775A>G
  • NM_001407655.1:c.4775A>G
  • NM_001407656.1:c.4772A>G
  • NM_001407657.1:c.4772A>G
  • NM_001407658.1:c.4772A>G
  • NM_001407659.1:c.4769A>G
  • NM_001407660.1:c.4769A>G
  • NM_001407661.1:c.4769A>G
  • NM_001407662.1:c.4769A>G
  • NM_001407663.1:c.4769A>G
  • NM_001407664.1:c.4730A>G
  • NM_001407665.1:c.4730A>G
  • NM_001407666.1:c.4730A>G
  • NM_001407667.1:c.4730A>G
  • NM_001407668.1:c.4730A>G
  • NM_001407669.1:c.4730A>G
  • NM_001407670.1:c.4727A>G
  • NM_001407671.1:c.4727A>G
  • NM_001407672.1:c.4727A>G
  • NM_001407673.1:c.4727A>G
  • NM_001407674.1:c.4727A>G
  • NM_001407675.1:c.4727A>G
  • NM_001407676.1:c.4727A>G
  • NM_001407677.1:c.4727A>G
  • NM_001407678.1:c.4727A>G
  • NM_001407679.1:c.4727A>G
  • NM_001407680.1:c.4727A>G
  • NM_001407681.1:c.4724A>G
  • NM_001407682.1:c.4724A>G
  • NM_001407683.1:c.4724A>G
  • NM_001407684.1:c.4853A>G
  • NM_001407685.1:c.4724A>G
  • NM_001407686.1:c.4724A>G
  • NM_001407687.1:c.4724A>G
  • NM_001407688.1:c.4724A>G
  • NM_001407689.1:c.4724A>G
  • NM_001407690.1:c.4721A>G
  • NM_001407691.1:c.4721A>G
  • NM_001407692.1:c.4712A>G
  • NM_001407694.1:c.4712A>G
  • NM_001407695.1:c.4712A>G
  • NM_001407696.1:c.4712A>G
  • NM_001407697.1:c.4712A>G
  • NM_001407698.1:c.4712A>G
  • NM_001407724.1:c.4712A>G
  • NM_001407725.1:c.4712A>G
  • NM_001407726.1:c.4712A>G
  • NM_001407727.1:c.4712A>G
  • NM_001407728.1:c.4712A>G
  • NM_001407729.1:c.4712A>G
  • NM_001407730.1:c.4712A>G
  • NM_001407731.1:c.4712A>G
  • NM_001407732.1:c.4709A>G
  • NM_001407733.1:c.4709A>G
  • NM_001407734.1:c.4709A>G
  • NM_001407735.1:c.4709A>G
  • NM_001407736.1:c.4709A>G
  • NM_001407737.1:c.4709A>G
  • NM_001407738.1:c.4709A>G
  • NM_001407739.1:c.4709A>G
  • NM_001407740.1:c.4709A>G
  • NM_001407741.1:c.4709A>G
  • NM_001407742.1:c.4709A>G
  • NM_001407743.1:c.4709A>G
  • NM_001407744.1:c.4709A>G
  • NM_001407745.1:c.4709A>G
  • NM_001407746.1:c.4709A>G
  • NM_001407747.1:c.4709A>G
  • NM_001407748.1:c.4709A>G
  • NM_001407749.1:c.4709A>G
  • NM_001407750.1:c.4709A>G
  • NM_001407751.1:c.4709A>G
  • NM_001407752.1:c.4709A>G
  • NM_001407838.1:c.4706A>G
  • NM_001407839.1:c.4706A>G
  • NM_001407841.1:c.4706A>G
  • NM_001407842.1:c.4706A>G
  • NM_001407843.1:c.4706A>G
  • NM_001407844.1:c.4706A>G
  • NM_001407845.1:c.4706A>G
  • NM_001407846.1:c.4706A>G
  • NM_001407847.1:c.4706A>G
  • NM_001407848.1:c.4706A>G
  • NM_001407849.1:c.4706A>G
  • NM_001407850.1:c.4706A>G
  • NM_001407851.1:c.4706A>G
  • NM_001407852.1:c.4706A>G
  • NM_001407853.1:c.4706A>G
  • NM_001407854.1:c.4853A>G
  • NM_001407858.1:c.4850A>G
  • NM_001407859.1:c.4850A>G
  • NM_001407860.1:c.4850A>G
  • NM_001407861.1:c.4847A>G
  • NM_001407862.1:c.4652A>G
  • NM_001407863.1:c.4727A>G
  • NM_001407874.1:c.4646A>G
  • NM_001407875.1:c.4646A>G
  • NM_001407879.1:c.4643A>G
  • NM_001407881.1:c.4643A>G
  • NM_001407882.1:c.4643A>G
  • NM_001407884.1:c.4643A>G
  • NM_001407885.1:c.4643A>G
  • NM_001407886.1:c.4643A>G
  • NM_001407887.1:c.4643A>G
  • NM_001407889.1:c.4643A>G
  • NM_001407894.1:c.4640A>G
  • NM_001407895.1:c.4640A>G
  • NM_001407896.1:c.4640A>G
  • NM_001407897.1:c.4640A>G
  • NM_001407898.1:c.4640A>G
  • NM_001407899.1:c.4640A>G
  • NM_001407900.1:c.4640A>G
  • NM_001407902.1:c.4640A>G
  • NM_001407904.1:c.4640A>G
  • NM_001407906.1:c.4640A>G
  • NM_001407907.1:c.4640A>G
  • NM_001407908.1:c.4640A>G
  • NM_001407909.1:c.4640A>G
  • NM_001407910.1:c.4640A>G
  • NM_001407915.1:c.4637A>G
  • NM_001407916.1:c.4637A>G
  • NM_001407917.1:c.4637A>G
  • NM_001407918.1:c.4637A>G
  • NM_001407919.1:c.4730A>G
  • NM_001407920.1:c.4589A>G
  • NM_001407921.1:c.4589A>G
  • NM_001407922.1:c.4589A>G
  • NM_001407923.1:c.4589A>G
  • NM_001407924.1:c.4589A>G
  • NM_001407925.1:c.4589A>G
  • NM_001407926.1:c.4589A>G
  • NM_001407927.1:c.4586A>G
  • NM_001407928.1:c.4586A>G
  • NM_001407929.1:c.4586A>G
  • NM_001407930.1:c.4586A>G
  • NM_001407931.1:c.4586A>G
  • NM_001407932.1:c.4586A>G
  • NM_001407933.1:c.4586A>G
  • NM_001407934.1:c.4583A>G
  • NM_001407935.1:c.4583A>G
  • NM_001407936.1:c.4583A>G
  • NM_001407937.1:c.4730A>G
  • NM_001407938.1:c.4730A>G
  • NM_001407939.1:c.4727A>G
  • NM_001407940.1:c.4727A>G
  • NM_001407941.1:c.4724A>G
  • NM_001407942.1:c.4712A>G
  • NM_001407943.1:c.4709A>G
  • NM_001407944.1:c.4709A>G
  • NM_001407945.1:c.4709A>G
  • NM_001407946.1:c.4520A>G
  • NM_001407947.1:c.4520A>G
  • NM_001407948.1:c.4520A>G
  • NM_001407949.1:c.4520A>G
  • NM_001407950.1:c.4517A>G
  • NM_001407951.1:c.4517A>G
  • NM_001407952.1:c.4517A>G
  • NM_001407953.1:c.4517A>G
  • NM_001407954.1:c.4517A>G
  • NM_001407955.1:c.4517A>G
  • NM_001407956.1:c.4514A>G
  • NM_001407957.1:c.4514A>G
  • NM_001407958.1:c.4514A>G
  • NM_001407959.1:c.4472A>G
  • NM_001407960.1:c.4469A>G
  • NM_001407962.1:c.4469A>G
  • NM_001407963.1:c.4466A>G
  • NM_001407964.1:c.4391A>G
  • NM_001407965.1:c.4346A>G
  • NM_001407966.1:c.3965A>G
  • NM_001407967.1:c.3962A>G
  • NM_001407968.1:c.2249A>G
  • NM_001407969.1:c.2246A>G
  • NM_001407970.1:c.1610A>G
  • NM_001407971.1:c.1610A>G
  • NM_001407972.1:c.1607A>G
  • NM_001407973.1:c.1544A>G
  • NM_001407974.1:c.1544A>G
  • NM_001407975.1:c.1544A>G
  • NM_001407976.1:c.1544A>G
  • NM_001407977.1:c.1544A>G
  • NM_001407978.1:c.1544A>G
  • NM_001407979.1:c.1541A>G
  • NM_001407980.1:c.1541A>G
  • NM_001407981.1:c.1541A>G
  • NM_001407982.1:c.1541A>G
  • NM_001407983.1:c.1541A>G
  • NM_001407984.1:c.1541A>G
  • NM_001407985.1:c.1541A>G
  • NM_001407986.1:c.1541A>G
  • NM_001407990.1:c.1541A>G
  • NM_001407991.1:c.1541A>G
  • NM_001407992.1:c.1541A>G
  • NM_001407993.1:c.1541A>G
  • NM_001408392.1:c.1538A>G
  • NM_001408396.1:c.1538A>G
  • NM_001408397.1:c.1538A>G
  • NM_001408398.1:c.1538A>G
  • NM_001408399.1:c.1538A>G
  • NM_001408400.1:c.1538A>G
  • NM_001408401.1:c.1538A>G
  • NM_001408402.1:c.1538A>G
  • NM_001408403.1:c.1538A>G
  • NM_001408404.1:c.1538A>G
  • NM_001408406.1:c.1535A>G
  • NM_001408407.1:c.1535A>G
  • NM_001408408.1:c.1535A>G
  • NM_001408409.1:c.1532A>G
  • NM_001408410.1:c.1469A>G
  • NM_001408411.1:c.1466A>G
  • NM_001408412.1:c.1463A>G
  • NM_001408413.1:c.1463A>G
  • NM_001408414.1:c.1463A>G
  • NM_001408415.1:c.1463A>G
  • NM_001408416.1:c.1463A>G
  • NM_001408418.1:c.1427A>G
  • NM_001408419.1:c.1427A>G
  • NM_001408420.1:c.1427A>G
  • NM_001408421.1:c.1424A>G
  • NM_001408422.1:c.1424A>G
  • NM_001408423.1:c.1424A>G
  • NM_001408424.1:c.1424A>G
  • NM_001408425.1:c.1421A>G
  • NM_001408426.1:c.1421A>G
  • NM_001408427.1:c.1421A>G
  • NM_001408428.1:c.1421A>G
  • NM_001408429.1:c.1421A>G
  • NM_001408430.1:c.1421A>G
  • NM_001408431.1:c.1421A>G
  • NM_001408432.1:c.1418A>G
  • NM_001408433.1:c.1418A>G
  • NM_001408434.1:c.1418A>G
  • NM_001408435.1:c.1418A>G
  • NM_001408436.1:c.1418A>G
  • NM_001408437.1:c.1418A>G
  • NM_001408438.1:c.1418A>G
  • NM_001408439.1:c.1418A>G
  • NM_001408440.1:c.1418A>G
  • NM_001408441.1:c.1418A>G
  • NM_001408442.1:c.1418A>G
  • NM_001408443.1:c.1418A>G
  • NM_001408444.1:c.1418A>G
  • NM_001408445.1:c.1415A>G
  • NM_001408446.1:c.1415A>G
  • NM_001408447.1:c.1415A>G
  • NM_001408448.1:c.1415A>G
  • NM_001408450.1:c.1415A>G
  • NM_001408451.1:c.1409A>G
  • NM_001408452.1:c.1403A>G
  • NM_001408453.1:c.1403A>G
  • NM_001408454.1:c.1403A>G
  • NM_001408455.1:c.1403A>G
  • NM_001408456.1:c.1403A>G
  • NM_001408457.1:c.1403A>G
  • NM_001408458.1:c.1400A>G
  • NM_001408459.1:c.1400A>G
  • NM_001408460.1:c.1400A>G
  • NM_001408461.1:c.1400A>G
  • NM_001408462.1:c.1400A>G
  • NM_001408463.1:c.1400A>G
  • NM_001408464.1:c.1400A>G
  • NM_001408465.1:c.1400A>G
  • NM_001408466.1:c.1400A>G
  • NM_001408467.1:c.1400A>G
  • NM_001408468.1:c.1397A>G
  • NM_001408469.1:c.1397A>G
  • NM_001408470.1:c.1397A>G
  • NM_001408472.1:c.1541A>G
  • NM_001408473.1:c.1538A>G
  • NM_001408474.1:c.1343A>G
  • NM_001408475.1:c.1340A>G
  • NM_001408476.1:c.1340A>G
  • NM_001408478.1:c.1334A>G
  • NM_001408479.1:c.1334A>G
  • NM_001408480.1:c.1334A>G
  • NM_001408481.1:c.1331A>G
  • NM_001408482.1:c.1331A>G
  • NM_001408483.1:c.1331A>G
  • NM_001408484.1:c.1331A>G
  • NM_001408485.1:c.1331A>G
  • NM_001408489.1:c.1331A>G
  • NM_001408490.1:c.1331A>G
  • NM_001408491.1:c.1331A>G
  • NM_001408492.1:c.1328A>G
  • NM_001408493.1:c.1328A>G
  • NM_001408494.1:c.1304A>G
  • NM_001408495.1:c.1298A>G
  • NM_001408496.1:c.1280A>G
  • NM_001408497.1:c.1280A>G
  • NM_001408498.1:c.1280A>G
  • NM_001408499.1:c.1280A>G
  • NM_001408500.1:c.1280A>G
  • NM_001408501.1:c.1280A>G
  • NM_001408502.1:c.1277A>G
  • NM_001408503.1:c.1277A>G
  • NM_001408504.1:c.1277A>G
  • NM_001408505.1:c.1274A>G
  • NM_001408506.1:c.1217A>G
  • NM_001408507.1:c.1214A>G
  • NM_001408508.1:c.1205A>G
  • NM_001408509.1:c.1202A>G
  • NM_001408510.1:c.1163A>G
  • NM_001408511.1:c.1160A>G
  • NM_001408512.1:c.1040A>G
  • NM_001408513.1:c.1013A>G
  • NM_007294.4:c.4853A>GMANE SELECT
  • NM_007297.4:c.4712A>G
  • NM_007298.4:c.1541A>G
  • NM_007299.4:c.1541A>G
  • NM_007300.3:c.4916A>G
  • NM_007300.4:c.4916A>G
  • NM_007304.2:c.1541A>G
  • NP_001394500.1:p.His1547Arg
  • NP_001394510.1:p.His1640Arg
  • NP_001394511.1:p.His1640Arg
  • NP_001394512.1:p.His1639Arg
  • NP_001394514.1:p.His1639Arg
  • NP_001394516.1:p.His1639Arg
  • NP_001394519.1:p.His1638Arg
  • NP_001394520.1:p.His1638Arg
  • NP_001394522.1:p.His1618Arg
  • NP_001394523.1:p.His1618Arg
  • NP_001394525.1:p.His1618Arg
  • NP_001394526.1:p.His1618Arg
  • NP_001394527.1:p.His1618Arg
  • NP_001394531.1:p.His1618Arg
  • NP_001394532.1:p.His1618Arg
  • NP_001394534.1:p.His1618Arg
  • NP_001394539.1:p.His1617Arg
  • NP_001394540.1:p.His1617Arg
  • NP_001394541.1:p.His1617Arg
  • NP_001394542.1:p.His1617Arg
  • NP_001394543.1:p.His1617Arg
  • NP_001394544.1:p.His1617Arg
  • NP_001394545.1:p.His1617Arg
  • NP_001394546.1:p.His1617Arg
  • NP_001394547.1:p.His1617Arg
  • NP_001394548.1:p.His1617Arg
  • NP_001394549.1:p.His1617Arg
  • NP_001394550.1:p.His1617Arg
  • NP_001394551.1:p.His1617Arg
  • NP_001394552.1:p.His1617Arg
  • NP_001394553.1:p.His1617Arg
  • NP_001394554.1:p.His1617Arg
  • NP_001394555.1:p.His1617Arg
  • NP_001394556.1:p.His1616Arg
  • NP_001394557.1:p.His1616Arg
  • NP_001394558.1:p.His1616Arg
  • NP_001394559.1:p.His1616Arg
  • NP_001394560.1:p.His1616Arg
  • NP_001394561.1:p.His1616Arg
  • NP_001394562.1:p.His1616Arg
  • NP_001394563.1:p.His1616Arg
  • NP_001394564.1:p.His1616Arg
  • NP_001394565.1:p.His1616Arg
  • NP_001394566.1:p.His1616Arg
  • NP_001394567.1:p.His1616Arg
  • NP_001394568.1:p.His1616Arg
  • NP_001394569.1:p.His1616Arg
  • NP_001394570.1:p.His1616Arg
  • NP_001394571.1:p.His1616Arg
  • NP_001394573.1:p.His1615Arg
  • NP_001394574.1:p.His1615Arg
  • NP_001394575.1:p.His1614Arg
  • NP_001394576.1:p.His1613Arg
  • NP_001394577.1:p.His1599Arg
  • NP_001394578.1:p.His1598Arg
  • NP_001394581.1:p.His1618Arg
  • NP_001394582.1:p.His1592Arg
  • NP_001394583.1:p.His1592Arg
  • NP_001394584.1:p.His1592Arg
  • NP_001394585.1:p.His1591Arg
  • NP_001394586.1:p.His1591Arg
  • NP_001394587.1:p.His1591Arg
  • NP_001394588.1:p.His1590Arg
  • NP_001394589.1:p.His1590Arg
  • NP_001394590.1:p.His1590Arg
  • NP_001394591.1:p.His1590Arg
  • NP_001394592.1:p.His1590Arg
  • NP_001394593.1:p.His1577Arg
  • NP_001394594.1:p.His1577Arg
  • NP_001394595.1:p.His1577Arg
  • NP_001394596.1:p.His1577Arg
  • NP_001394597.1:p.His1577Arg
  • NP_001394598.1:p.His1577Arg
  • NP_001394599.1:p.His1576Arg
  • NP_001394600.1:p.His1576Arg
  • NP_001394601.1:p.His1576Arg
  • NP_001394602.1:p.His1576Arg
  • NP_001394603.1:p.His1576Arg
  • NP_001394604.1:p.His1576Arg
  • NP_001394605.1:p.His1576Arg
  • NP_001394606.1:p.His1576Arg
  • NP_001394607.1:p.His1576Arg
  • NP_001394608.1:p.His1576Arg
  • NP_001394609.1:p.His1576Arg
  • NP_001394610.1:p.His1575Arg
  • NP_001394611.1:p.His1575Arg
  • NP_001394612.1:p.His1575Arg
  • NP_001394613.1:p.His1618Arg
  • NP_001394614.1:p.His1575Arg
  • NP_001394615.1:p.His1575Arg
  • NP_001394616.1:p.His1575Arg
  • NP_001394617.1:p.His1575Arg
  • NP_001394618.1:p.His1575Arg
  • NP_001394619.1:p.His1574Arg
  • NP_001394620.1:p.His1574Arg
  • NP_001394621.1:p.His1571Arg
  • NP_001394623.1:p.His1571Arg
  • NP_001394624.1:p.His1571Arg
  • NP_001394625.1:p.His1571Arg
  • NP_001394626.1:p.His1571Arg
  • NP_001394627.1:p.His1571Arg
  • NP_001394653.1:p.His1571Arg
  • NP_001394654.1:p.His1571Arg
  • NP_001394655.1:p.His1571Arg
  • NP_001394656.1:p.His1571Arg
  • NP_001394657.1:p.His1571Arg
  • NP_001394658.1:p.His1571Arg
  • NP_001394659.1:p.His1571Arg
  • NP_001394660.1:p.His1571Arg
  • NP_001394661.1:p.His1570Arg
  • NP_001394662.1:p.His1570Arg
  • NP_001394663.1:p.His1570Arg
  • NP_001394664.1:p.His1570Arg
  • NP_001394665.1:p.His1570Arg
  • NP_001394666.1:p.His1570Arg
  • NP_001394667.1:p.His1570Arg
  • NP_001394668.1:p.His1570Arg
  • NP_001394669.1:p.His1570Arg
  • NP_001394670.1:p.His1570Arg
  • NP_001394671.1:p.His1570Arg
  • NP_001394672.1:p.His1570Arg
  • NP_001394673.1:p.His1570Arg
  • NP_001394674.1:p.His1570Arg
  • NP_001394675.1:p.His1570Arg
  • NP_001394676.1:p.His1570Arg
  • NP_001394677.1:p.His1570Arg
  • NP_001394678.1:p.His1570Arg
  • NP_001394679.1:p.His1570Arg
  • NP_001394680.1:p.His1570Arg
  • NP_001394681.1:p.His1570Arg
  • NP_001394767.1:p.His1569Arg
  • NP_001394768.1:p.His1569Arg
  • NP_001394770.1:p.His1569Arg
  • NP_001394771.1:p.His1569Arg
  • NP_001394772.1:p.His1569Arg
  • NP_001394773.1:p.His1569Arg
  • NP_001394774.1:p.His1569Arg
  • NP_001394775.1:p.His1569Arg
  • NP_001394776.1:p.His1569Arg
  • NP_001394777.1:p.His1569Arg
  • NP_001394778.1:p.His1569Arg
  • NP_001394779.1:p.His1569Arg
  • NP_001394780.1:p.His1569Arg
  • NP_001394781.1:p.His1569Arg
  • NP_001394782.1:p.His1569Arg
  • NP_001394783.1:p.His1618Arg
  • NP_001394787.1:p.His1617Arg
  • NP_001394788.1:p.His1617Arg
  • NP_001394789.1:p.His1617Arg
  • NP_001394790.1:p.His1616Arg
  • NP_001394791.1:p.His1551Arg
  • NP_001394792.1:p.His1576Arg
  • NP_001394803.1:p.His1549Arg
  • NP_001394804.1:p.His1549Arg
  • NP_001394808.1:p.His1548Arg
  • NP_001394810.1:p.His1548Arg
  • NP_001394811.1:p.His1548Arg
  • NP_001394813.1:p.His1548Arg
  • NP_001394814.1:p.His1548Arg
  • NP_001394815.1:p.His1548Arg
  • NP_001394816.1:p.His1548Arg
  • NP_001394818.1:p.His1548Arg
  • NP_001394823.1:p.His1547Arg
  • NP_001394824.1:p.His1547Arg
  • NP_001394825.1:p.His1547Arg
  • NP_001394826.1:p.His1547Arg
  • NP_001394827.1:p.His1547Arg
  • NP_001394828.1:p.His1547Arg
  • NP_001394829.1:p.His1547Arg
  • NP_001394831.1:p.His1547Arg
  • NP_001394833.1:p.His1547Arg
  • NP_001394835.1:p.His1547Arg
  • NP_001394836.1:p.His1547Arg
  • NP_001394837.1:p.His1547Arg
  • NP_001394838.1:p.His1547Arg
  • NP_001394839.1:p.His1547Arg
  • NP_001394844.1:p.His1546Arg
  • NP_001394845.1:p.His1546Arg
  • NP_001394846.1:p.His1546Arg
  • NP_001394847.1:p.His1546Arg
  • NP_001394848.1:p.His1577Arg
  • NP_001394849.1:p.His1530Arg
  • NP_001394850.1:p.His1530Arg
  • NP_001394851.1:p.His1530Arg
  • NP_001394852.1:p.His1530Arg
  • NP_001394853.1:p.His1530Arg
  • NP_001394854.1:p.His1530Arg
  • NP_001394855.1:p.His1530Arg
  • NP_001394856.1:p.His1529Arg
  • NP_001394857.1:p.His1529Arg
  • NP_001394858.1:p.His1529Arg
  • NP_001394859.1:p.His1529Arg
  • NP_001394860.1:p.His1529Arg
  • NP_001394861.1:p.His1529Arg
  • NP_001394862.1:p.His1529Arg
  • NP_001394863.1:p.His1528Arg
  • NP_001394864.1:p.His1528Arg
  • NP_001394865.1:p.His1528Arg
  • NP_001394866.1:p.His1577Arg
  • NP_001394867.1:p.His1577Arg
  • NP_001394868.1:p.His1576Arg
  • NP_001394869.1:p.His1576Arg
  • NP_001394870.1:p.His1575Arg
  • NP_001394871.1:p.His1571Arg
  • NP_001394872.1:p.His1570Arg
  • NP_001394873.1:p.His1570Arg
  • NP_001394874.1:p.His1570Arg
  • NP_001394875.1:p.His1507Arg
  • NP_001394876.1:p.His1507Arg
  • NP_001394877.1:p.His1507Arg
  • NP_001394878.1:p.His1507Arg
  • NP_001394879.1:p.His1506Arg
  • NP_001394880.1:p.His1506Arg
  • NP_001394881.1:p.His1506Arg
  • NP_001394882.1:p.His1506Arg
  • NP_001394883.1:p.His1506Arg
  • NP_001394884.1:p.His1506Arg
  • NP_001394885.1:p.His1505Arg
  • NP_001394886.1:p.His1505Arg
  • NP_001394887.1:p.His1505Arg
  • NP_001394888.1:p.His1491Arg
  • NP_001394889.1:p.His1490Arg
  • NP_001394891.1:p.His1490Arg
  • NP_001394892.1:p.His1489Arg
  • NP_001394893.1:p.His1464Arg
  • NP_001394894.1:p.His1449Arg
  • NP_001394895.1:p.His1322Arg
  • NP_001394896.1:p.His1321Arg
  • NP_001394897.1:p.His750Arg
  • NP_001394898.1:p.His749Arg
  • NP_001394899.1:p.His537Arg
  • NP_001394900.1:p.His537Arg
  • NP_001394901.1:p.His536Arg
  • NP_001394902.1:p.His515Arg
  • NP_001394903.1:p.His515Arg
  • NP_001394904.1:p.His515Arg
  • NP_001394905.1:p.His515Arg
  • NP_001394906.1:p.His515Arg
  • NP_001394907.1:p.His515Arg
  • NP_001394908.1:p.His514Arg
  • NP_001394909.1:p.His514Arg
  • NP_001394910.1:p.His514Arg
  • NP_001394911.1:p.His514Arg
  • NP_001394912.1:p.His514Arg
  • NP_001394913.1:p.His514Arg
  • NP_001394914.1:p.His514Arg
  • NP_001394915.1:p.His514Arg
  • NP_001394919.1:p.His514Arg
  • NP_001394920.1:p.His514Arg
  • NP_001394921.1:p.His514Arg
  • NP_001394922.1:p.His514Arg
  • NP_001395321.1:p.His513Arg
  • NP_001395325.1:p.His513Arg
  • NP_001395326.1:p.His513Arg
  • NP_001395327.1:p.His513Arg
  • NP_001395328.1:p.His513Arg
  • NP_001395329.1:p.His513Arg
  • NP_001395330.1:p.His513Arg
  • NP_001395331.1:p.His513Arg
  • NP_001395332.1:p.His513Arg
  • NP_001395333.1:p.His513Arg
  • NP_001395335.1:p.His512Arg
  • NP_001395336.1:p.His512Arg
  • NP_001395337.1:p.His512Arg
  • NP_001395338.1:p.His511Arg
  • NP_001395339.1:p.His490Arg
  • NP_001395340.1:p.His489Arg
  • NP_001395341.1:p.His488Arg
  • NP_001395342.1:p.His488Arg
  • NP_001395343.1:p.His488Arg
  • NP_001395344.1:p.His488Arg
  • NP_001395345.1:p.His488Arg
  • NP_001395347.1:p.His476Arg
  • NP_001395348.1:p.His476Arg
  • NP_001395349.1:p.His476Arg
  • NP_001395350.1:p.His475Arg
  • NP_001395351.1:p.His475Arg
  • NP_001395352.1:p.His475Arg
  • NP_001395353.1:p.His475Arg
  • NP_001395354.1:p.His474Arg
  • NP_001395355.1:p.His474Arg
  • NP_001395356.1:p.His474Arg
  • NP_001395357.1:p.His474Arg
  • NP_001395358.1:p.His474Arg
  • NP_001395359.1:p.His474Arg
  • NP_001395360.1:p.His474Arg
  • NP_001395361.1:p.His473Arg
  • NP_001395362.1:p.His473Arg
  • NP_001395363.1:p.His473Arg
  • NP_001395364.1:p.His473Arg
  • NP_001395365.1:p.His473Arg
  • NP_001395366.1:p.His473Arg
  • NP_001395367.1:p.His473Arg
  • NP_001395368.1:p.His473Arg
  • NP_001395369.1:p.His473Arg
  • NP_001395370.1:p.His473Arg
  • NP_001395371.1:p.His473Arg
  • NP_001395372.1:p.His473Arg
  • NP_001395373.1:p.His473Arg
  • NP_001395374.1:p.His472Arg
  • NP_001395375.1:p.His472Arg
  • NP_001395376.1:p.His472Arg
  • NP_001395377.1:p.His472Arg
  • NP_001395379.1:p.His472Arg
  • NP_001395380.1:p.His470Arg
  • NP_001395381.1:p.His468Arg
  • NP_001395382.1:p.His468Arg
  • NP_001395383.1:p.His468Arg
  • NP_001395384.1:p.His468Arg
  • NP_001395385.1:p.His468Arg
  • NP_001395386.1:p.His468Arg
  • NP_001395387.1:p.His467Arg
  • NP_001395388.1:p.His467Arg
  • NP_001395389.1:p.His467Arg
  • NP_001395390.1:p.His467Arg
  • NP_001395391.1:p.His467Arg
  • NP_001395392.1:p.His467Arg
  • NP_001395393.1:p.His467Arg
  • NP_001395394.1:p.His467Arg
  • NP_001395395.1:p.His467Arg
  • NP_001395396.1:p.His467Arg
  • NP_001395397.1:p.His466Arg
  • NP_001395398.1:p.His466Arg
  • NP_001395399.1:p.His466Arg
  • NP_001395401.1:p.His514Arg
  • NP_001395402.1:p.His513Arg
  • NP_001395403.1:p.His448Arg
  • NP_001395404.1:p.His447Arg
  • NP_001395405.1:p.His447Arg
  • NP_001395407.1:p.His445Arg
  • NP_001395408.1:p.His445Arg
  • NP_001395409.1:p.His445Arg
  • NP_001395410.1:p.His444Arg
  • NP_001395411.1:p.His444Arg
  • NP_001395412.1:p.His444Arg
  • NP_001395413.1:p.His444Arg
  • NP_001395414.1:p.His444Arg
  • NP_001395418.1:p.His444Arg
  • NP_001395419.1:p.His444Arg
  • NP_001395420.1:p.His444Arg
  • NP_001395421.1:p.His443Arg
  • NP_001395422.1:p.His443Arg
  • NP_001395423.1:p.His435Arg
  • NP_001395424.1:p.His433Arg
  • NP_001395425.1:p.His427Arg
  • NP_001395426.1:p.His427Arg
  • NP_001395427.1:p.His427Arg
  • NP_001395428.1:p.His427Arg
  • NP_001395429.1:p.His427Arg
  • NP_001395430.1:p.His427Arg
  • NP_001395431.1:p.His426Arg
  • NP_001395432.1:p.His426Arg
  • NP_001395433.1:p.His426Arg
  • NP_001395434.1:p.His425Arg
  • NP_001395435.1:p.His406Arg
  • NP_001395436.1:p.His405Arg
  • NP_001395437.1:p.His402Arg
  • NP_001395438.1:p.His401Arg
  • NP_001395439.1:p.His388Arg
  • NP_001395440.1:p.His387Arg
  • NP_001395441.1:p.His347Arg
  • NP_001395442.1:p.His338Arg
  • NP_009225.1:p.His1618Arg
  • NP_009225.1:p.His1618Arg
  • NP_009228.2:p.His1571Arg
  • NP_009229.2:p.His514Arg
  • NP_009229.2:p.His514Arg
  • NP_009230.2:p.His514Arg
  • NP_009231.2:p.His1639Arg
  • NP_009235.2:p.His514Arg
  • LRG_292t1:c.4853A>G
  • LRG_292:g.146923A>G
  • LRG_292p1:p.His1618Arg
  • NC_000017.10:g.41223078T>C
  • NM_007294.3:c.4853A>G
  • NM_007298.3:c.1541A>G
  • NR_027676.2:n.5030A>G
Protein change:
H1321R
Links:
dbSNP: rs1277159752
NCBI 1000 Genomes Browser:
rs1277159752
Molecular consequence:
  • NM_001407571.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4919A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4919A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4838A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4796A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4775A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4775A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4775A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4772A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4772A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4772A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4652A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4646A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4646A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4583A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4583A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4583A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4520A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4520A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4520A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4520A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4514A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4514A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4514A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4469A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4469A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4466A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4391A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4346A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3965A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3962A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2249A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2246A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1532A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1469A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1466A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1409A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1397A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1397A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1397A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1343A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1334A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1334A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1334A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1328A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1328A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1277A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1277A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1277A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1274A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1160A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5030A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004034291KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 13, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004034291.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

This sequence change replaces histidine with arginine at codon 1639 of the BRCA1 protein (p.His1639Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 482919). In-silico predictions show benign computational verdict based on 10 benign predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, MVP, MutationAssessor, MutationTaster, PrimateAI and SIFT vs 2 pathogenic predictions from BayesDel_addAF and M-CAP and the position is not highly conserved. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024