NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Oct 16, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000496924.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)]

NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)

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.5074G>A (p.Asp1692Asn)

HGVS:

NC_000017.11:g.43067608C>T
NG_005905.2:g.150376G>A
NM_001407571.1:c.4861G>A
NM_001407581.1:c.5140G>A
NM_001407582.1:c.5140G>A
NM_001407583.1:c.5137G>A
NM_001407585.1:c.5137G>A
NM_001407587.1:c.5137G>A
NM_001407590.1:c.5134G>A
NM_001407591.1:c.5134G>A
NM_001407593.1:c.5074G>A
NM_001407594.1:c.5074G>A
NM_001407596.1:c.5074G>A
NM_001407597.1:c.5074G>A
NM_001407598.1:c.5074G>A
NM_001407602.1:c.5074G>A
NM_001407603.1:c.5074G>A
NM_001407605.1:c.5074G>A
NM_001407610.1:c.5071G>A
NM_001407611.1:c.5071G>A
NM_001407612.1:c.5071G>A
NM_001407613.1:c.5071G>A
NM_001407614.1:c.5071G>A
NM_001407615.1:c.5071G>A
NM_001407616.1:c.5071G>A
NM_001407617.1:c.5071G>A
NM_001407618.1:c.5071G>A
NM_001407619.1:c.5071G>A
NM_001407620.1:c.5071G>A
NM_001407621.1:c.5071G>A
NM_001407622.1:c.5071G>A
NM_001407623.1:c.5071G>A
NM_001407624.1:c.5071G>A
NM_001407625.1:c.5071G>A
NM_001407626.1:c.5071G>A
NM_001407627.1:c.5068G>A
NM_001407628.1:c.5068G>A
NM_001407629.1:c.5068G>A
NM_001407630.1:c.5068G>A
NM_001407631.1:c.5068G>A
NM_001407632.1:c.5068G>A
NM_001407633.1:c.5068G>A
NM_001407634.1:c.5068G>A
NM_001407635.1:c.5068G>A
NM_001407636.1:c.5068G>A
NM_001407637.1:c.5068G>A
NM_001407638.1:c.5068G>A
NM_001407639.1:c.5068G>A
NM_001407640.1:c.5068G>A
NM_001407641.1:c.5068G>A
NM_001407642.1:c.5068G>A
NM_001407644.1:c.5065G>A
NM_001407645.1:c.5065G>A
NM_001407646.1:c.5062G>A
NM_001407647.1:c.5059G>A
NM_001407648.1:c.5017G>A
NM_001407649.1:c.5014G>A
NM_001407652.1:c.5074G>A
NM_001407653.1:c.4996G>A
NM_001407654.1:c.4996G>A
NM_001407655.1:c.4996G>A
NM_001407656.1:c.4993G>A
NM_001407657.1:c.4993G>A
NM_001407658.1:c.4993G>A
NM_001407659.1:c.4990G>A
NM_001407660.1:c.4990G>A
NM_001407661.1:c.4990G>A
NM_001407662.1:c.4990G>A
NM_001407663.1:c.4990G>A
NM_001407664.1:c.4951G>A
NM_001407665.1:c.4951G>A
NM_001407666.1:c.4951G>A
NM_001407667.1:c.4951G>A
NM_001407668.1:c.4951G>A
NM_001407669.1:c.4951G>A
NM_001407670.1:c.4948G>A
NM_001407671.1:c.4948G>A
NM_001407672.1:c.4948G>A
NM_001407673.1:c.4948G>A
NM_001407674.1:c.4948G>A
NM_001407675.1:c.4948G>A
NM_001407676.1:c.4948G>A
NM_001407677.1:c.4948G>A
NM_001407678.1:c.4948G>A
NM_001407679.1:c.4948G>A
NM_001407680.1:c.4948G>A
NM_001407681.1:c.4945G>A
NM_001407682.1:c.4945G>A
NM_001407683.1:c.4945G>A
NM_001407684.1:c.5074G>A
NM_001407685.1:c.4945G>A
NM_001407686.1:c.4945G>A
NM_001407687.1:c.4945G>A
NM_001407688.1:c.4945G>A
NM_001407689.1:c.4945G>A
NM_001407690.1:c.4942G>A
NM_001407691.1:c.4942G>A
NM_001407692.1:c.4933G>A
NM_001407694.1:c.4933G>A
NM_001407695.1:c.4933G>A
NM_001407696.1:c.4933G>A
NM_001407697.1:c.4933G>A
NM_001407698.1:c.4933G>A
NM_001407724.1:c.4933G>A
NM_001407725.1:c.4933G>A
NM_001407726.1:c.4933G>A
NM_001407727.1:c.4933G>A
NM_001407728.1:c.4933G>A
NM_001407729.1:c.4933G>A
NM_001407730.1:c.4933G>A
NM_001407731.1:c.4933G>A
NM_001407732.1:c.4930G>A
NM_001407733.1:c.4930G>A
NM_001407734.1:c.4930G>A
NM_001407735.1:c.4930G>A
NM_001407736.1:c.4930G>A
NM_001407737.1:c.4930G>A
NM_001407738.1:c.4930G>A
NM_001407739.1:c.4930G>A
NM_001407740.1:c.4930G>A
NM_001407741.1:c.4930G>A
NM_001407742.1:c.4930G>A
NM_001407743.1:c.4930G>A
NM_001407744.1:c.4930G>A
NM_001407745.1:c.4930G>A
NM_001407746.1:c.4930G>A
NM_001407747.1:c.4930G>A
NM_001407748.1:c.4930G>A
NM_001407749.1:c.4930G>A
NM_001407750.1:c.4930G>A
NM_001407751.1:c.4930G>A
NM_001407752.1:c.4930G>A
NM_001407838.1:c.4927G>A
NM_001407839.1:c.4927G>A
NM_001407841.1:c.4927G>A
NM_001407842.1:c.4927G>A
NM_001407843.1:c.4927G>A
NM_001407844.1:c.4927G>A
NM_001407845.1:c.4927G>A
NM_001407846.1:c.4927G>A
NM_001407847.1:c.4927G>A
NM_001407848.1:c.4927G>A
NM_001407849.1:c.4927G>A
NM_001407850.1:c.4927G>A
NM_001407851.1:c.4927G>A
NM_001407852.1:c.4927G>A
NM_001407853.1:c.4927G>A
NM_001407854.1:c.5074G>A
NM_001407858.1:c.5071G>A
NM_001407859.1:c.5071G>A
NM_001407860.1:c.5071G>A
NM_001407861.1:c.5068G>A
NM_001407862.1:c.4873G>A
NM_001407863.1:c.4948G>A
NM_001407874.1:c.4867G>A
NM_001407875.1:c.4867G>A
NM_001407879.1:c.4864G>A
NM_001407881.1:c.4864G>A
NM_001407882.1:c.4864G>A
NM_001407884.1:c.4864G>A
NM_001407885.1:c.4864G>A
NM_001407886.1:c.4864G>A
NM_001407887.1:c.4864G>A
NM_001407889.1:c.4864G>A
NM_001407894.1:c.4861G>A
NM_001407895.1:c.4861G>A
NM_001407896.1:c.4861G>A
NM_001407897.1:c.4861G>A
NM_001407898.1:c.4861G>A
NM_001407899.1:c.4861G>A
NM_001407900.1:c.4861G>A
NM_001407902.1:c.4861G>A
NM_001407904.1:c.4861G>A
NM_001407906.1:c.4861G>A
NM_001407907.1:c.4861G>A
NM_001407908.1:c.4861G>A
NM_001407909.1:c.4861G>A
NM_001407910.1:c.4861G>A
NM_001407915.1:c.4858G>A
NM_001407916.1:c.4858G>A
NM_001407917.1:c.4858G>A
NM_001407918.1:c.4858G>A
NM_001407919.1:c.4951G>A
NM_001407920.1:c.4810G>A
NM_001407921.1:c.4810G>A
NM_001407922.1:c.4810G>A
NM_001407923.1:c.4810G>A
NM_001407924.1:c.4810G>A
NM_001407925.1:c.4810G>A
NM_001407926.1:c.4810G>A
NM_001407927.1:c.4807G>A
NM_001407928.1:c.4807G>A
NM_001407929.1:c.4807G>A
NM_001407930.1:c.4807G>A
NM_001407931.1:c.4807G>A
NM_001407932.1:c.4807G>A
NM_001407933.1:c.4807G>A
NM_001407934.1:c.4804G>A
NM_001407935.1:c.4804G>A
NM_001407936.1:c.4804G>A
NM_001407937.1:c.4951G>A
NM_001407938.1:c.4951G>A
NM_001407939.1:c.4948G>A
NM_001407940.1:c.4948G>A
NM_001407941.1:c.4945G>A
NM_001407942.1:c.4933G>A
NM_001407943.1:c.4930G>A
NM_001407944.1:c.4930G>A
NM_001407945.1:c.4930G>A
NM_001407946.1:c.4741G>A
NM_001407947.1:c.4741G>A
NM_001407948.1:c.4741G>A
NM_001407949.1:c.4741G>A
NM_001407950.1:c.4738G>A
NM_001407951.1:c.4738G>A
NM_001407952.1:c.4738G>A
NM_001407953.1:c.4738G>A
NM_001407954.1:c.4738G>A
NM_001407955.1:c.4738G>A
NM_001407956.1:c.4735G>A
NM_001407957.1:c.4735G>A
NM_001407958.1:c.4735G>A
NM_001407959.1:c.4693G>A
NM_001407960.1:c.4690G>A
NM_001407962.1:c.4690G>A
NM_001407963.1:c.4687G>A
NM_001407964.1:c.4612G>A
NM_001407965.1:c.4567G>A
NM_001407966.1:c.4186G>A
NM_001407967.1:c.4183G>A
NM_001407968.1:c.2470G>A
NM_001407969.1:c.2467G>A
NM_001407970.1:c.1831G>A
NM_001407971.1:c.1831G>A
NM_001407972.1:c.1828G>A
NM_001407973.1:c.1765G>A
NM_001407974.1:c.1765G>A
NM_001407975.1:c.1765G>A
NM_001407976.1:c.1765G>A
NM_001407977.1:c.1765G>A
NM_001407978.1:c.1765G>A
NM_001407979.1:c.1762G>A
NM_001407980.1:c.1762G>A
NM_001407981.1:c.1762G>A
NM_001407982.1:c.1762G>A
NM_001407983.1:c.1762G>A
NM_001407984.1:c.1762G>A
NM_001407985.1:c.1762G>A
NM_001407986.1:c.1762G>A
NM_001407990.1:c.1762G>A
NM_001407991.1:c.1762G>A
NM_001407992.1:c.1762G>A
NM_001407993.1:c.1762G>A
NM_001408392.1:c.1759G>A
NM_001408396.1:c.1759G>A
NM_001408397.1:c.1759G>A
NM_001408398.1:c.1759G>A
NM_001408399.1:c.1759G>A
NM_001408400.1:c.1759G>A
NM_001408401.1:c.1759G>A
NM_001408402.1:c.1759G>A
NM_001408403.1:c.1759G>A
NM_001408404.1:c.1759G>A
NM_001408406.1:c.1756G>A
NM_001408407.1:c.1756G>A
NM_001408408.1:c.1756G>A
NM_001408409.1:c.1753G>A
NM_001408410.1:c.1690G>A
NM_001408411.1:c.1687G>A
NM_001408412.1:c.1684G>A
NM_001408413.1:c.1684G>A
NM_001408414.1:c.1684G>A
NM_001408415.1:c.1684G>A
NM_001408416.1:c.1684G>A
NM_001408418.1:c.1648G>A
NM_001408419.1:c.1648G>A
NM_001408420.1:c.1648G>A
NM_001408421.1:c.1645G>A
NM_001408422.1:c.1645G>A
NM_001408423.1:c.1645G>A
NM_001408424.1:c.1645G>A
NM_001408425.1:c.1642G>A
NM_001408426.1:c.1642G>A
NM_001408427.1:c.1642G>A
NM_001408428.1:c.1642G>A
NM_001408429.1:c.1642G>A
NM_001408430.1:c.1642G>A
NM_001408431.1:c.1642G>A
NM_001408432.1:c.1639G>A
NM_001408433.1:c.1639G>A
NM_001408434.1:c.1639G>A
NM_001408435.1:c.1639G>A
NM_001408436.1:c.1639G>A
NM_001408437.1:c.1639G>A
NM_001408438.1:c.1639G>A
NM_001408439.1:c.1639G>A
NM_001408440.1:c.1639G>A
NM_001408441.1:c.1639G>A
NM_001408442.1:c.1639G>A
NM_001408443.1:c.1639G>A
NM_001408444.1:c.1639G>A
NM_001408445.1:c.1636G>A
NM_001408446.1:c.1636G>A
NM_001408447.1:c.1636G>A
NM_001408448.1:c.1636G>A
NM_001408450.1:c.1636G>A
NM_001408451.1:c.1630G>A
NM_001408452.1:c.1624G>A
NM_001408453.1:c.1624G>A
NM_001408454.1:c.1624G>A
NM_001408455.1:c.1624G>A
NM_001408456.1:c.1624G>A
NM_001408457.1:c.1624G>A
NM_001408458.1:c.1621G>A
NM_001408459.1:c.1621G>A
NM_001408460.1:c.1621G>A
NM_001408461.1:c.1621G>A
NM_001408462.1:c.1621G>A
NM_001408463.1:c.1621G>A
NM_001408464.1:c.1621G>A
NM_001408465.1:c.1621G>A
NM_001408466.1:c.1621G>A
NM_001408467.1:c.1621G>A
NM_001408468.1:c.1618G>A
NM_001408469.1:c.1618G>A
NM_001408470.1:c.1618G>A
NM_001408472.1:c.1762G>A
NM_001408473.1:c.1759G>A
NM_001408474.1:c.1564G>A
NM_001408475.1:c.1561G>A
NM_001408476.1:c.1561G>A
NM_001408478.1:c.1555G>A
NM_001408479.1:c.1555G>A
NM_001408480.1:c.1555G>A
NM_001408481.1:c.1552G>A
NM_001408482.1:c.1552G>A
NM_001408483.1:c.1552G>A
NM_001408484.1:c.1552G>A
NM_001408485.1:c.1552G>A
NM_001408489.1:c.1552G>A
NM_001408490.1:c.1552G>A
NM_001408491.1:c.1552G>A
NM_001408492.1:c.1549G>A
NM_001408493.1:c.1549G>A
NM_001408494.1:c.1525G>A
NM_001408495.1:c.1519G>A
NM_001408496.1:c.1501G>A
NM_001408497.1:c.1501G>A
NM_001408498.1:c.1501G>A
NM_001408499.1:c.1501G>A
NM_001408500.1:c.1501G>A
NM_001408501.1:c.1501G>A
NM_001408502.1:c.1498G>A
NM_001408503.1:c.1498G>A
NM_001408504.1:c.1498G>A
NM_001408505.1:c.1495G>A
NM_001408506.1:c.1438G>A
NM_001408507.1:c.1435G>A
NM_001408508.1:c.1426G>A
NM_001408509.1:c.1423G>A
NM_001408510.1:c.1384G>A
NM_001408511.1:c.1381G>A
NM_001408512.1:c.1261G>A
NM_001408513.1:c.1234G>A
NM_007294.4:c.5074G>AMANE SELECT
NM_007297.4:c.4933G>A
NM_007298.4:c.1762G>A
NM_007299.4:c.1762G>A
NM_007300.4:c.5137G>A
NM_007304.2:c.1762G>A
NP_001394500.1:p.Asp1621Asn
NP_001394510.1:p.Asp1714Asn
NP_001394511.1:p.Asp1714Asn
NP_001394512.1:p.Asp1713Asn
NP_001394514.1:p.Asp1713Asn
NP_001394516.1:p.Asp1713Asn
NP_001394519.1:p.Asp1712Asn
NP_001394520.1:p.Asp1712Asn
NP_001394522.1:p.Asp1692Asn
NP_001394523.1:p.Asp1692Asn
NP_001394525.1:p.Asp1692Asn
NP_001394526.1:p.Asp1692Asn
NP_001394527.1:p.Asp1692Asn
NP_001394531.1:p.Asp1692Asn
NP_001394532.1:p.Asp1692Asn
NP_001394534.1:p.Asp1692Asn
NP_001394539.1:p.Asp1691Asn
NP_001394540.1:p.Asp1691Asn
NP_001394541.1:p.Asp1691Asn
NP_001394542.1:p.Asp1691Asn
NP_001394543.1:p.Asp1691Asn
NP_001394544.1:p.Asp1691Asn
NP_001394545.1:p.Asp1691Asn
NP_001394546.1:p.Asp1691Asn
NP_001394547.1:p.Asp1691Asn
NP_001394548.1:p.Asp1691Asn
NP_001394549.1:p.Asp1691Asn
NP_001394550.1:p.Asp1691Asn
NP_001394551.1:p.Asp1691Asn
NP_001394552.1:p.Asp1691Asn
NP_001394553.1:p.Asp1691Asn
NP_001394554.1:p.Asp1691Asn
NP_001394555.1:p.Asp1691Asn
NP_001394556.1:p.Asp1690Asn
NP_001394557.1:p.Asp1690Asn
NP_001394558.1:p.Asp1690Asn
NP_001394559.1:p.Asp1690Asn
NP_001394560.1:p.Asp1690Asn
NP_001394561.1:p.Asp1690Asn
NP_001394562.1:p.Asp1690Asn
NP_001394563.1:p.Asp1690Asn
NP_001394564.1:p.Asp1690Asn
NP_001394565.1:p.Asp1690Asn
NP_001394566.1:p.Asp1690Asn
NP_001394567.1:p.Asp1690Asn
NP_001394568.1:p.Asp1690Asn
NP_001394569.1:p.Asp1690Asn
NP_001394570.1:p.Asp1690Asn
NP_001394571.1:p.Asp1690Asn
NP_001394573.1:p.Asp1689Asn
NP_001394574.1:p.Asp1689Asn
NP_001394575.1:p.Asp1688Asn
NP_001394576.1:p.Asp1687Asn
NP_001394577.1:p.Asp1673Asn
NP_001394578.1:p.Asp1672Asn
NP_001394581.1:p.Gly1692Arg
NP_001394582.1:p.Asp1666Asn
NP_001394583.1:p.Asp1666Asn
NP_001394584.1:p.Asp1666Asn
NP_001394585.1:p.Asp1665Asn
NP_001394586.1:p.Asp1665Asn
NP_001394587.1:p.Asp1665Asn
NP_001394588.1:p.Asp1664Asn
NP_001394589.1:p.Asp1664Asn
NP_001394590.1:p.Asp1664Asn
NP_001394591.1:p.Asp1664Asn
NP_001394592.1:p.Asp1664Asn
NP_001394593.1:p.Asp1651Asn
NP_001394594.1:p.Asp1651Asn
NP_001394595.1:p.Asp1651Asn
NP_001394596.1:p.Asp1651Asn
NP_001394597.1:p.Asp1651Asn
NP_001394598.1:p.Asp1651Asn
NP_001394599.1:p.Asp1650Asn
NP_001394600.1:p.Asp1650Asn
NP_001394601.1:p.Asp1650Asn
NP_001394602.1:p.Asp1650Asn
NP_001394603.1:p.Asp1650Asn
NP_001394604.1:p.Asp1650Asn
NP_001394605.1:p.Asp1650Asn
NP_001394606.1:p.Asp1650Asn
NP_001394607.1:p.Asp1650Asn
NP_001394608.1:p.Asp1650Asn
NP_001394609.1:p.Asp1650Asn
NP_001394610.1:p.Asp1649Asn
NP_001394611.1:p.Asp1649Asn
NP_001394612.1:p.Asp1649Asn
NP_001394613.1:p.Asp1692Asn
NP_001394614.1:p.Asp1649Asn
NP_001394615.1:p.Asp1649Asn
NP_001394616.1:p.Asp1649Asn
NP_001394617.1:p.Asp1649Asn
NP_001394618.1:p.Asp1649Asn
NP_001394619.1:p.Asp1648Asn
NP_001394620.1:p.Asp1648Asn
NP_001394621.1:p.Asp1645Asn
NP_001394623.1:p.Asp1645Asn
NP_001394624.1:p.Asp1645Asn
NP_001394625.1:p.Asp1645Asn
NP_001394626.1:p.Asp1645Asn
NP_001394627.1:p.Asp1645Asn
NP_001394653.1:p.Asp1645Asn
NP_001394654.1:p.Asp1645Asn
NP_001394655.1:p.Asp1645Asn
NP_001394656.1:p.Asp1645Asn
NP_001394657.1:p.Asp1645Asn
NP_001394658.1:p.Asp1645Asn
NP_001394659.1:p.Asp1645Asn
NP_001394660.1:p.Asp1645Asn
NP_001394661.1:p.Asp1644Asn
NP_001394662.1:p.Asp1644Asn
NP_001394663.1:p.Asp1644Asn
NP_001394664.1:p.Asp1644Asn
NP_001394665.1:p.Asp1644Asn
NP_001394666.1:p.Asp1644Asn
NP_001394667.1:p.Asp1644Asn
NP_001394668.1:p.Asp1644Asn
NP_001394669.1:p.Asp1644Asn
NP_001394670.1:p.Asp1644Asn
NP_001394671.1:p.Asp1644Asn
NP_001394672.1:p.Asp1644Asn
NP_001394673.1:p.Asp1644Asn
NP_001394674.1:p.Asp1644Asn
NP_001394675.1:p.Asp1644Asn
NP_001394676.1:p.Asp1644Asn
NP_001394677.1:p.Asp1644Asn
NP_001394678.1:p.Asp1644Asn
NP_001394679.1:p.Asp1644Asn
NP_001394680.1:p.Asp1644Asn
NP_001394681.1:p.Asp1644Asn
NP_001394767.1:p.Asp1643Asn
NP_001394768.1:p.Asp1643Asn
NP_001394770.1:p.Asp1643Asn
NP_001394771.1:p.Asp1643Asn
NP_001394772.1:p.Asp1643Asn
NP_001394773.1:p.Asp1643Asn
NP_001394774.1:p.Asp1643Asn
NP_001394775.1:p.Asp1643Asn
NP_001394776.1:p.Asp1643Asn
NP_001394777.1:p.Asp1643Asn
NP_001394778.1:p.Asp1643Asn
NP_001394779.1:p.Asp1643Asn
NP_001394780.1:p.Asp1643Asn
NP_001394781.1:p.Asp1643Asn
NP_001394782.1:p.Asp1643Asn
NP_001394783.1:p.Asp1692Asn
NP_001394787.1:p.Asp1691Asn
NP_001394788.1:p.Asp1691Asn
NP_001394789.1:p.Asp1691Asn
NP_001394790.1:p.Asp1690Asn
NP_001394791.1:p.Asp1625Asn
NP_001394792.1:p.Gly1650Arg
NP_001394803.1:p.Asp1623Asn
NP_001394804.1:p.Asp1623Asn
NP_001394808.1:p.Asp1622Asn
NP_001394810.1:p.Asp1622Asn
NP_001394811.1:p.Asp1622Asn
NP_001394813.1:p.Asp1622Asn
NP_001394814.1:p.Asp1622Asn
NP_001394815.1:p.Asp1622Asn
NP_001394816.1:p.Asp1622Asn
NP_001394818.1:p.Asp1622Asn
NP_001394823.1:p.Asp1621Asn
NP_001394824.1:p.Asp1621Asn
NP_001394825.1:p.Asp1621Asn
NP_001394826.1:p.Asp1621Asn
NP_001394827.1:p.Asp1621Asn
NP_001394828.1:p.Asp1621Asn
NP_001394829.1:p.Asp1621Asn
NP_001394831.1:p.Asp1621Asn
NP_001394833.1:p.Asp1621Asn
NP_001394835.1:p.Asp1621Asn
NP_001394836.1:p.Asp1621Asn
NP_001394837.1:p.Asp1621Asn
NP_001394838.1:p.Asp1621Asn
NP_001394839.1:p.Asp1621Asn
NP_001394844.1:p.Asp1620Asn
NP_001394845.1:p.Asp1620Asn
NP_001394846.1:p.Asp1620Asn
NP_001394847.1:p.Asp1620Asn
NP_001394848.1:p.Asp1651Asn
NP_001394849.1:p.Asp1604Asn
NP_001394850.1:p.Asp1604Asn
NP_001394851.1:p.Asp1604Asn
NP_001394852.1:p.Asp1604Asn
NP_001394853.1:p.Asp1604Asn
NP_001394854.1:p.Asp1604Asn
NP_001394855.1:p.Asp1604Asn
NP_001394856.1:p.Asp1603Asn
NP_001394857.1:p.Asp1603Asn
NP_001394858.1:p.Asp1603Asn
NP_001394859.1:p.Asp1603Asn
NP_001394860.1:p.Asp1603Asn
NP_001394861.1:p.Asp1603Asn
NP_001394862.1:p.Asp1603Asn
NP_001394863.1:p.Asp1602Asn
NP_001394864.1:p.Asp1602Asn
NP_001394865.1:p.Asp1602Asn
NP_001394866.1:p.Asp1651Asn
NP_001394867.1:p.Asp1651Asn
NP_001394868.1:p.Asp1650Asn
NP_001394869.1:p.Asp1650Asn
NP_001394870.1:p.Asp1649Asn
NP_001394871.1:p.Asp1645Asn
NP_001394872.1:p.Asp1644Asn
NP_001394873.1:p.Asp1644Asn
NP_001394874.1:p.Asp1644Asn
NP_001394875.1:p.Asp1581Asn
NP_001394876.1:p.Asp1581Asn
NP_001394877.1:p.Asp1581Asn
NP_001394878.1:p.Asp1581Asn
NP_001394879.1:p.Asp1580Asn
NP_001394880.1:p.Asp1580Asn
NP_001394881.1:p.Asp1580Asn
NP_001394882.1:p.Asp1580Asn
NP_001394883.1:p.Asp1580Asn
NP_001394884.1:p.Asp1580Asn
NP_001394885.1:p.Asp1579Asn
NP_001394886.1:p.Asp1579Asn
NP_001394887.1:p.Asp1579Asn
NP_001394888.1:p.Asp1565Asn
NP_001394889.1:p.Asp1564Asn
NP_001394891.1:p.Asp1564Asn
NP_001394892.1:p.Asp1563Asn
NP_001394893.1:p.Asp1538Asn
NP_001394894.1:p.Asp1523Asn
NP_001394895.1:p.Asp1396Asn
NP_001394896.1:p.Asp1395Asn
NP_001394897.1:p.Asp824Asn
NP_001394898.1:p.Asp823Asn
NP_001394899.1:p.Asp611Asn
NP_001394900.1:p.Asp611Asn
NP_001394901.1:p.Asp610Asn
NP_001394902.1:p.Asp589Asn
NP_001394903.1:p.Asp589Asn
NP_001394904.1:p.Asp589Asn
NP_001394905.1:p.Asp589Asn
NP_001394906.1:p.Asp589Asn
NP_001394907.1:p.Asp589Asn
NP_001394908.1:p.Asp588Asn
NP_001394909.1:p.Asp588Asn
NP_001394910.1:p.Asp588Asn
NP_001394911.1:p.Asp588Asn
NP_001394912.1:p.Asp588Asn
NP_001394913.1:p.Asp588Asn
NP_001394914.1:p.Asp588Asn
NP_001394915.1:p.Asp588Asn
NP_001394919.1:p.Asp588Asn
NP_001394920.1:p.Asp588Asn
NP_001394921.1:p.Asp588Asn
NP_001394922.1:p.Asp588Asn
NP_001395321.1:p.Asp587Asn
NP_001395325.1:p.Asp587Asn
NP_001395326.1:p.Asp587Asn
NP_001395327.1:p.Asp587Asn
NP_001395328.1:p.Asp587Asn
NP_001395329.1:p.Asp587Asn
NP_001395330.1:p.Asp587Asn
NP_001395331.1:p.Asp587Asn
NP_001395332.1:p.Asp587Asn
NP_001395333.1:p.Asp587Asn
NP_001395335.1:p.Asp586Asn
NP_001395336.1:p.Asp586Asn
NP_001395337.1:p.Asp586Asn
NP_001395338.1:p.Asp585Asn
NP_001395339.1:p.Asp564Asn
NP_001395340.1:p.Asp563Asn
NP_001395341.1:p.Asp562Asn
NP_001395342.1:p.Asp562Asn
NP_001395343.1:p.Asp562Asn
NP_001395344.1:p.Asp562Asn
NP_001395345.1:p.Asp562Asn
NP_001395347.1:p.Asp550Asn
NP_001395348.1:p.Asp550Asn
NP_001395349.1:p.Asp550Asn
NP_001395350.1:p.Asp549Asn
NP_001395351.1:p.Asp549Asn
NP_001395352.1:p.Asp549Asn
NP_001395353.1:p.Asp549Asn
NP_001395354.1:p.Asp548Asn
NP_001395355.1:p.Asp548Asn
NP_001395356.1:p.Asp548Asn
NP_001395357.1:p.Asp548Asn
NP_001395358.1:p.Asp548Asn
NP_001395359.1:p.Asp548Asn
NP_001395360.1:p.Asp548Asn
NP_001395361.1:p.Asp547Asn
NP_001395362.1:p.Asp547Asn
NP_001395363.1:p.Asp547Asn
NP_001395364.1:p.Asp547Asn
NP_001395365.1:p.Asp547Asn
NP_001395366.1:p.Asp547Asn
NP_001395367.1:p.Asp547Asn
NP_001395368.1:p.Asp547Asn
NP_001395369.1:p.Asp547Asn
NP_001395370.1:p.Asp547Asn
NP_001395371.1:p.Asp547Asn
NP_001395372.1:p.Asp547Asn
NP_001395373.1:p.Asp547Asn
NP_001395374.1:p.Asp546Asn
NP_001395375.1:p.Asp546Asn
NP_001395376.1:p.Asp546Asn
NP_001395377.1:p.Asp546Asn
NP_001395379.1:p.Asp546Asn
NP_001395380.1:p.Asp544Asn
NP_001395381.1:p.Asp542Asn
NP_001395382.1:p.Asp542Asn
NP_001395383.1:p.Asp542Asn
NP_001395384.1:p.Asp542Asn
NP_001395385.1:p.Asp542Asn
NP_001395386.1:p.Asp542Asn
NP_001395387.1:p.Asp541Asn
NP_001395388.1:p.Asp541Asn
NP_001395389.1:p.Asp541Asn
NP_001395390.1:p.Asp541Asn
NP_001395391.1:p.Asp541Asn
NP_001395392.1:p.Asp541Asn
NP_001395393.1:p.Asp541Asn
NP_001395394.1:p.Asp541Asn
NP_001395395.1:p.Asp541Asn
NP_001395396.1:p.Asp541Asn
NP_001395397.1:p.Asp540Asn
NP_001395398.1:p.Asp540Asn
NP_001395399.1:p.Asp540Asn
NP_001395401.1:p.Asp588Asn
NP_001395402.1:p.Asp587Asn
NP_001395403.1:p.Asp522Asn
NP_001395404.1:p.Asp521Asn
NP_001395405.1:p.Asp521Asn
NP_001395407.1:p.Asp519Asn
NP_001395408.1:p.Asp519Asn
NP_001395409.1:p.Asp519Asn
NP_001395410.1:p.Asp518Asn
NP_001395411.1:p.Asp518Asn
NP_001395412.1:p.Asp518Asn
NP_001395413.1:p.Asp518Asn
NP_001395414.1:p.Asp518Asn
NP_001395418.1:p.Asp518Asn
NP_001395419.1:p.Asp518Asn
NP_001395420.1:p.Asp518Asn
NP_001395421.1:p.Asp517Asn
NP_001395422.1:p.Asp517Asn
NP_001395423.1:p.Asp509Asn
NP_001395424.1:p.Asp507Asn
NP_001395425.1:p.Asp501Asn
NP_001395426.1:p.Asp501Asn
NP_001395427.1:p.Asp501Asn
NP_001395428.1:p.Asp501Asn
NP_001395429.1:p.Asp501Asn
NP_001395430.1:p.Asp501Asn
NP_001395431.1:p.Asp500Asn
NP_001395432.1:p.Asp500Asn
NP_001395433.1:p.Asp500Asn
NP_001395434.1:p.Asp499Asn
NP_001395435.1:p.Asp480Asn
NP_001395436.1:p.Asp479Asn
NP_001395437.1:p.Asp476Asn
NP_001395438.1:p.Asp475Asn
NP_001395439.1:p.Asp462Asn
NP_001395440.1:p.Asp461Asn
NP_001395441.1:p.Asp421Asn
NP_001395442.1:p.Asp412Asn
NP_009225.1:p.Asp1692Asn
NP_009225.1:p.Asp1692Asn
NP_009228.2:p.Asp1645Asn
NP_009229.2:p.Asp588Asn
NP_009229.2:p.Asp588Asn
NP_009230.2:p.Asp588Asn
NP_009231.2:p.Asp1713Asn
NP_009235.2:p.Asp588Asn
LRG_292t1:c.5074G>A
LRG_292:g.150376G>A
LRG_292p1:p.Asp1692Asn
NC_000017.10:g.41219625C>T
NM_007294.3:c.5074G>A
NM_007298.3:c.1762G>A
NR_027676.2:n.5251G>A
U14680.1:n.5193G>A

Nucleotide change:

5193G>A

Protein change:

D1395N

Links:

dbSNP: rs80187739

NCBI 1000 Genomes Browser:

rs80187739

Molecular consequence:

NM_001407571.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.5140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.5140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.5137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.5137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.5137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.5134G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.5134G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.5065G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.5065G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.5062G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.5059G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.5017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.5014G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.4996G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.4996G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.4996G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.4993G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.4993G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.4993G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.4990G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.4990G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.4990G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.4990G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.4990G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.4951G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.4951G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.4951G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.4951G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.4951G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.4951G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.4945G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.4945G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.4945G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.4945G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.4945G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.4945G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.4945G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.4945G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.4942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.4942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.4927G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.4873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.4867G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.4867G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.4864G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.4864G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.4864G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.4864G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.4864G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.4864G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.4864G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.4864G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.4861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.4858G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.4858G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.4858G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.4858G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.4951G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.4810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.4810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.4810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.4810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.4810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.4810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.4810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.4807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.4807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.4807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.4807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.4807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.4807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.4807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.4804G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.4804G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.4804G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.4951G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.4951G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.4948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.4945G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.4930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.4741G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.4741G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.4741G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.4741G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.4735G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.4735G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.4735G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.4693G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.4687G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.4612G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.4567G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.4186G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.4183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.2470G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.2467G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.1831G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.1831G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.1828G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.1765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.1765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.1765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.1765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.1765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.1765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.1756G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.1756G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.1756G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.1753G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.1690G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.1687G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.1684G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.1684G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.1684G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.1684G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.1684G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.1648G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.1648G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.1648G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.1636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.1636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.1636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.1636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.1636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.1630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.1618G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.1618G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.1618G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.1564G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.1555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.1555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.1555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.1549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.1549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.1525G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.1498G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.1498G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.1498G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.1495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408506.1:c.1438G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408507.1:c.1435G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.1426G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.1423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408510.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.1381G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408512.1:c.1261G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408513.1:c.1234G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.4933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.5137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.5251G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

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

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000587454	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Likely pathogenic (Dec 17, 2015)	germline	research
SCV001585898	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 16, 2024)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 10196379, 8460636, 9452084, 15571962, 25748678, 30209399, 17576681, 9536098, 28492532
SCV003923014	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Mar 30, 2023)	germline	clinical testing	PubMed (13) [See all records that cite these PMIDs] 16267036, 15235020, 15172985, 20516115, 17305420, 10196379, 9643283, 21769658, 11157798, 8460636, 15571962, 9452084, 30209399 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000587454

Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)

no assertion criteria provided

Likely pathogenic
(Dec 17, 2015)

germline

research

SCV001585898

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 16, 2024)

germline

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

SCV003923014

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Mar 30, 2023)

germline

clinical testing

PubMed (13)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity.

Gaboriau DC, Rowling PJ, Morrison CG, Itzhaki LS.

Biochem J. 2015 Mar 15;466(3):613-24. doi: 10.1042/BJ20141077.

PubMed [citation]

PMID:: 25748678

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.

PubMed [citation]

PMID:: 17576681
PMCID:: PMC1934990

See all PubMed Citations (17)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587454.1

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

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001585898.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

Description

This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1692 of the BRCA1 protein (p.Asp1692Asn). This variant also falls at the last nucleotide of exon 16, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 8460636, 9452084, 10196379, 15571962). It is commonly reported in individuals of Icelandic ancestry (PMID: 8460636, 9452084, 15571962). This variant is also known as 5193G>A. ClinVar contains an entry for this variant (Variation ID: 37632). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 25748678, 30209399). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003923014.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (13)

Description

Variant summary: BRCA1 c.5074G>A (p.Asp1692Asn) results in a conservative amino acid change located in the BRCT domain of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251348 control chromosomes. c.5074G>A has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome. In families with this variant, 11 transmissions of the variant allele and 1 transmissions of the reference allele to affected individuals was reported. These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function and showed that this variant results in loss of function (Findlay_2018). Eight clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (pathogenic/likely pathogenic n=7, VUS n=1). Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Apr 28, 2025

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Relating variation to medicine