NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) AND not provided
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Dec 1, 2023
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000256114.15
Allele description [Variation Report for NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)]
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
- 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>C (p.Asp1692His)
- HGVS:
- NC_000017.11:g.43067608C>G
- NG_005905.2:g.150376G>C
- NM_001407571.1:c.4861G>C
- NM_001407581.1:c.5140G>C
- NM_001407582.1:c.5140G>C
- NM_001407583.1:c.5137G>C
- NM_001407585.1:c.5137G>C
- NM_001407587.1:c.5137G>C
- NM_001407590.1:c.5134G>C
- NM_001407591.1:c.5134G>C
- NM_001407593.1:c.5074G>C
- NM_001407594.1:c.5074G>C
- NM_001407596.1:c.5074G>C
- NM_001407597.1:c.5074G>C
- NM_001407598.1:c.5074G>C
- NM_001407602.1:c.5074G>C
- NM_001407603.1:c.5074G>C
- NM_001407605.1:c.5074G>C
- NM_001407610.1:c.5071G>C
- NM_001407611.1:c.5071G>C
- NM_001407612.1:c.5071G>C
- NM_001407613.1:c.5071G>C
- NM_001407614.1:c.5071G>C
- NM_001407615.1:c.5071G>C
- NM_001407616.1:c.5071G>C
- NM_001407617.1:c.5071G>C
- NM_001407618.1:c.5071G>C
- NM_001407619.1:c.5071G>C
- NM_001407620.1:c.5071G>C
- NM_001407621.1:c.5071G>C
- NM_001407622.1:c.5071G>C
- NM_001407623.1:c.5071G>C
- NM_001407624.1:c.5071G>C
- NM_001407625.1:c.5071G>C
- NM_001407626.1:c.5071G>C
- NM_001407627.1:c.5068G>C
- NM_001407628.1:c.5068G>C
- NM_001407629.1:c.5068G>C
- NM_001407630.1:c.5068G>C
- NM_001407631.1:c.5068G>C
- NM_001407632.1:c.5068G>C
- NM_001407633.1:c.5068G>C
- NM_001407634.1:c.5068G>C
- NM_001407635.1:c.5068G>C
- NM_001407636.1:c.5068G>C
- NM_001407637.1:c.5068G>C
- NM_001407638.1:c.5068G>C
- NM_001407639.1:c.5068G>C
- NM_001407640.1:c.5068G>C
- NM_001407641.1:c.5068G>C
- NM_001407642.1:c.5068G>C
- NM_001407644.1:c.5065G>C
- NM_001407645.1:c.5065G>C
- NM_001407646.1:c.5062G>C
- NM_001407647.1:c.5059G>C
- NM_001407648.1:c.5017G>C
- NM_001407649.1:c.5014G>C
- NM_001407652.1:c.5074G>C
- NM_001407653.1:c.4996G>C
- NM_001407654.1:c.4996G>C
- NM_001407655.1:c.4996G>C
- NM_001407656.1:c.4993G>C
- NM_001407657.1:c.4993G>C
- NM_001407658.1:c.4993G>C
- NM_001407659.1:c.4990G>C
- NM_001407660.1:c.4990G>C
- NM_001407661.1:c.4990G>C
- NM_001407662.1:c.4990G>C
- NM_001407663.1:c.4990G>C
- NM_001407664.1:c.4951G>C
- NM_001407665.1:c.4951G>C
- NM_001407666.1:c.4951G>C
- NM_001407667.1:c.4951G>C
- NM_001407668.1:c.4951G>C
- NM_001407669.1:c.4951G>C
- NM_001407670.1:c.4948G>C
- NM_001407671.1:c.4948G>C
- NM_001407672.1:c.4948G>C
- NM_001407673.1:c.4948G>C
- NM_001407674.1:c.4948G>C
- NM_001407675.1:c.4948G>C
- NM_001407676.1:c.4948G>C
- NM_001407677.1:c.4948G>C
- NM_001407678.1:c.4948G>C
- NM_001407679.1:c.4948G>C
- NM_001407680.1:c.4948G>C
- NM_001407681.1:c.4945G>C
- NM_001407682.1:c.4945G>C
- NM_001407683.1:c.4945G>C
- NM_001407684.1:c.5074G>C
- NM_001407685.1:c.4945G>C
- NM_001407686.1:c.4945G>C
- NM_001407687.1:c.4945G>C
- NM_001407688.1:c.4945G>C
- NM_001407689.1:c.4945G>C
- NM_001407690.1:c.4942G>C
- NM_001407691.1:c.4942G>C
- NM_001407692.1:c.4933G>C
- NM_001407694.1:c.4933G>C
- NM_001407695.1:c.4933G>C
- NM_001407696.1:c.4933G>C
- NM_001407697.1:c.4933G>C
- NM_001407698.1:c.4933G>C
- NM_001407724.1:c.4933G>C
- NM_001407725.1:c.4933G>C
- NM_001407726.1:c.4933G>C
- NM_001407727.1:c.4933G>C
- NM_001407728.1:c.4933G>C
- NM_001407729.1:c.4933G>C
- NM_001407730.1:c.4933G>C
- NM_001407731.1:c.4933G>C
- NM_001407732.1:c.4930G>C
- NM_001407733.1:c.4930G>C
- NM_001407734.1:c.4930G>C
- NM_001407735.1:c.4930G>C
- NM_001407736.1:c.4930G>C
- NM_001407737.1:c.4930G>C
- NM_001407738.1:c.4930G>C
- NM_001407739.1:c.4930G>C
- NM_001407740.1:c.4930G>C
- NM_001407741.1:c.4930G>C
- NM_001407742.1:c.4930G>C
- NM_001407743.1:c.4930G>C
- NM_001407744.1:c.4930G>C
- NM_001407745.1:c.4930G>C
- NM_001407746.1:c.4930G>C
- NM_001407747.1:c.4930G>C
- NM_001407748.1:c.4930G>C
- NM_001407749.1:c.4930G>C
- NM_001407750.1:c.4930G>C
- NM_001407751.1:c.4930G>C
- NM_001407752.1:c.4930G>C
- NM_001407838.1:c.4927G>C
- NM_001407839.1:c.4927G>C
- NM_001407841.1:c.4927G>C
- NM_001407842.1:c.4927G>C
- NM_001407843.1:c.4927G>C
- NM_001407844.1:c.4927G>C
- NM_001407845.1:c.4927G>C
- NM_001407846.1:c.4927G>C
- NM_001407847.1:c.4927G>C
- NM_001407848.1:c.4927G>C
- NM_001407849.1:c.4927G>C
- NM_001407850.1:c.4927G>C
- NM_001407851.1:c.4927G>C
- NM_001407852.1:c.4927G>C
- NM_001407853.1:c.4927G>C
- NM_001407854.1:c.5074G>C
- NM_001407858.1:c.5071G>C
- NM_001407859.1:c.5071G>C
- NM_001407860.1:c.5071G>C
- NM_001407861.1:c.5068G>C
- NM_001407862.1:c.4873G>C
- NM_001407863.1:c.4948G>C
- NM_001407874.1:c.4867G>C
- NM_001407875.1:c.4867G>C
- NM_001407879.1:c.4864G>C
- NM_001407881.1:c.4864G>C
- NM_001407882.1:c.4864G>C
- NM_001407884.1:c.4864G>C
- NM_001407885.1:c.4864G>C
- NM_001407886.1:c.4864G>C
- NM_001407887.1:c.4864G>C
- NM_001407889.1:c.4864G>C
- NM_001407894.1:c.4861G>C
- NM_001407895.1:c.4861G>C
- NM_001407896.1:c.4861G>C
- NM_001407897.1:c.4861G>C
- NM_001407898.1:c.4861G>C
- NM_001407899.1:c.4861G>C
- NM_001407900.1:c.4861G>C
- NM_001407902.1:c.4861G>C
- NM_001407904.1:c.4861G>C
- NM_001407906.1:c.4861G>C
- NM_001407907.1:c.4861G>C
- NM_001407908.1:c.4861G>C
- NM_001407909.1:c.4861G>C
- NM_001407910.1:c.4861G>C
- NM_001407915.1:c.4858G>C
- NM_001407916.1:c.4858G>C
- NM_001407917.1:c.4858G>C
- NM_001407918.1:c.4858G>C
- NM_001407919.1:c.4951G>C
- NM_001407920.1:c.4810G>C
- NM_001407921.1:c.4810G>C
- NM_001407922.1:c.4810G>C
- NM_001407923.1:c.4810G>C
- NM_001407924.1:c.4810G>C
- NM_001407925.1:c.4810G>C
- NM_001407926.1:c.4810G>C
- NM_001407927.1:c.4807G>C
- NM_001407928.1:c.4807G>C
- NM_001407929.1:c.4807G>C
- NM_001407930.1:c.4807G>C
- NM_001407931.1:c.4807G>C
- NM_001407932.1:c.4807G>C
- NM_001407933.1:c.4807G>C
- NM_001407934.1:c.4804G>C
- NM_001407935.1:c.4804G>C
- NM_001407936.1:c.4804G>C
- NM_001407937.1:c.4951G>C
- NM_001407938.1:c.4951G>C
- NM_001407939.1:c.4948G>C
- NM_001407940.1:c.4948G>C
- NM_001407941.1:c.4945G>C
- NM_001407942.1:c.4933G>C
- NM_001407943.1:c.4930G>C
- NM_001407944.1:c.4930G>C
- NM_001407945.1:c.4930G>C
- NM_001407946.1:c.4741G>C
- NM_001407947.1:c.4741G>C
- NM_001407948.1:c.4741G>C
- NM_001407949.1:c.4741G>C
- NM_001407950.1:c.4738G>C
- NM_001407951.1:c.4738G>C
- NM_001407952.1:c.4738G>C
- NM_001407953.1:c.4738G>C
- NM_001407954.1:c.4738G>C
- NM_001407955.1:c.4738G>C
- NM_001407956.1:c.4735G>C
- NM_001407957.1:c.4735G>C
- NM_001407958.1:c.4735G>C
- NM_001407959.1:c.4693G>C
- NM_001407960.1:c.4690G>C
- NM_001407962.1:c.4690G>C
- NM_001407963.1:c.4687G>C
- NM_001407964.1:c.4612G>C
- NM_001407965.1:c.4567G>C
- NM_001407966.1:c.4186G>C
- NM_001407967.1:c.4183G>C
- NM_001407968.1:c.2470G>C
- NM_001407969.1:c.2467G>C
- NM_001407970.1:c.1831G>C
- NM_001407971.1:c.1831G>C
- NM_001407972.1:c.1828G>C
- NM_001407973.1:c.1765G>C
- NM_001407974.1:c.1765G>C
- NM_001407975.1:c.1765G>C
- NM_001407976.1:c.1765G>C
- NM_001407977.1:c.1765G>C
- NM_001407978.1:c.1765G>C
- NM_001407979.1:c.1762G>C
- NM_001407980.1:c.1762G>C
- NM_001407981.1:c.1762G>C
- NM_001407982.1:c.1762G>C
- NM_001407983.1:c.1762G>C
- NM_001407984.1:c.1762G>C
- NM_001407985.1:c.1762G>C
- NM_001407986.1:c.1762G>C
- NM_001407990.1:c.1762G>C
- NM_001407991.1:c.1762G>C
- NM_001407992.1:c.1762G>C
- NM_001407993.1:c.1762G>C
- NM_001408392.1:c.1759G>C
- NM_001408396.1:c.1759G>C
- NM_001408397.1:c.1759G>C
- NM_001408398.1:c.1759G>C
- NM_001408399.1:c.1759G>C
- NM_001408400.1:c.1759G>C
- NM_001408401.1:c.1759G>C
- NM_001408402.1:c.1759G>C
- NM_001408403.1:c.1759G>C
- NM_001408404.1:c.1759G>C
- NM_001408406.1:c.1756G>C
- NM_001408407.1:c.1756G>C
- NM_001408408.1:c.1756G>C
- NM_001408409.1:c.1753G>C
- NM_001408410.1:c.1690G>C
- NM_001408411.1:c.1687G>C
- NM_001408412.1:c.1684G>C
- NM_001408413.1:c.1684G>C
- NM_001408414.1:c.1684G>C
- NM_001408415.1:c.1684G>C
- NM_001408416.1:c.1684G>C
- NM_001408418.1:c.1648G>C
- NM_001408419.1:c.1648G>C
- NM_001408420.1:c.1648G>C
- NM_001408421.1:c.1645G>C
- NM_001408422.1:c.1645G>C
- NM_001408423.1:c.1645G>C
- NM_001408424.1:c.1645G>C
- NM_001408425.1:c.1642G>C
- NM_001408426.1:c.1642G>C
- NM_001408427.1:c.1642G>C
- NM_001408428.1:c.1642G>C
- NM_001408429.1:c.1642G>C
- NM_001408430.1:c.1642G>C
- NM_001408431.1:c.1642G>C
- NM_001408432.1:c.1639G>C
- NM_001408433.1:c.1639G>C
- NM_001408434.1:c.1639G>C
- NM_001408435.1:c.1639G>C
- NM_001408436.1:c.1639G>C
- NM_001408437.1:c.1639G>C
- NM_001408438.1:c.1639G>C
- NM_001408439.1:c.1639G>C
- NM_001408440.1:c.1639G>C
- NM_001408441.1:c.1639G>C
- NM_001408442.1:c.1639G>C
- NM_001408443.1:c.1639G>C
- NM_001408444.1:c.1639G>C
- NM_001408445.1:c.1636G>C
- NM_001408446.1:c.1636G>C
- NM_001408447.1:c.1636G>C
- NM_001408448.1:c.1636G>C
- NM_001408450.1:c.1636G>C
- NM_001408451.1:c.1630G>C
- NM_001408452.1:c.1624G>C
- NM_001408453.1:c.1624G>C
- NM_001408454.1:c.1624G>C
- NM_001408455.1:c.1624G>C
- NM_001408456.1:c.1624G>C
- NM_001408457.1:c.1624G>C
- NM_001408458.1:c.1621G>C
- NM_001408459.1:c.1621G>C
- NM_001408460.1:c.1621G>C
- NM_001408461.1:c.1621G>C
- NM_001408462.1:c.1621G>C
- NM_001408463.1:c.1621G>C
- NM_001408464.1:c.1621G>C
- NM_001408465.1:c.1621G>C
- NM_001408466.1:c.1621G>C
- NM_001408467.1:c.1621G>C
- NM_001408468.1:c.1618G>C
- NM_001408469.1:c.1618G>C
- NM_001408470.1:c.1618G>C
- NM_001408472.1:c.1762G>C
- NM_001408473.1:c.1759G>C
- NM_001408474.1:c.1564G>C
- NM_001408475.1:c.1561G>C
- NM_001408476.1:c.1561G>C
- NM_001408478.1:c.1555G>C
- NM_001408479.1:c.1555G>C
- NM_001408480.1:c.1555G>C
- NM_001408481.1:c.1552G>C
- NM_001408482.1:c.1552G>C
- NM_001408483.1:c.1552G>C
- NM_001408484.1:c.1552G>C
- NM_001408485.1:c.1552G>C
- NM_001408489.1:c.1552G>C
- NM_001408490.1:c.1552G>C
- NM_001408491.1:c.1552G>C
- NM_001408492.1:c.1549G>C
- NM_001408493.1:c.1549G>C
- NM_001408494.1:c.1525G>C
- NM_001408495.1:c.1519G>C
- NM_001408496.1:c.1501G>C
- NM_001408497.1:c.1501G>C
- NM_001408498.1:c.1501G>C
- NM_001408499.1:c.1501G>C
- NM_001408500.1:c.1501G>C
- NM_001408501.1:c.1501G>C
- NM_001408502.1:c.1498G>C
- NM_001408503.1:c.1498G>C
- NM_001408504.1:c.1498G>C
- NM_001408505.1:c.1495G>C
- NM_001408506.1:c.1438G>C
- NM_001408507.1:c.1435G>C
- NM_001408508.1:c.1426G>C
- NM_001408509.1:c.1423G>C
- NM_001408510.1:c.1384G>C
- NM_001408511.1:c.1381G>C
- NM_001408512.1:c.1261G>C
- NM_001408513.1:c.1234G>C
- NM_007294.4:c.5074G>CMANE SELECT
- NM_007297.4:c.4933G>C
- NM_007298.4:c.1762G>C
- NM_007299.4:c.1762G>C
- NM_007300.4:c.5137G>C
- NM_007304.2:c.1762G>C
- NP_001394500.1:p.Asp1621His
- NP_001394510.1:p.Asp1714His
- NP_001394511.1:p.Asp1714His
- NP_001394512.1:p.Asp1713His
- NP_001394514.1:p.Asp1713His
- NP_001394516.1:p.Asp1713His
- NP_001394519.1:p.Asp1712His
- NP_001394520.1:p.Asp1712His
- NP_001394522.1:p.Asp1692His
- NP_001394523.1:p.Asp1692His
- NP_001394525.1:p.Asp1692His
- NP_001394526.1:p.Asp1692His
- NP_001394527.1:p.Asp1692His
- NP_001394531.1:p.Asp1692His
- NP_001394532.1:p.Asp1692His
- NP_001394534.1:p.Asp1692His
- NP_001394539.1:p.Asp1691His
- NP_001394540.1:p.Asp1691His
- NP_001394541.1:p.Asp1691His
- NP_001394542.1:p.Asp1691His
- NP_001394543.1:p.Asp1691His
- NP_001394544.1:p.Asp1691His
- NP_001394545.1:p.Asp1691His
- NP_001394546.1:p.Asp1691His
- NP_001394547.1:p.Asp1691His
- NP_001394548.1:p.Asp1691His
- NP_001394549.1:p.Asp1691His
- NP_001394550.1:p.Asp1691His
- NP_001394551.1:p.Asp1691His
- NP_001394552.1:p.Asp1691His
- NP_001394553.1:p.Asp1691His
- NP_001394554.1:p.Asp1691His
- NP_001394555.1:p.Asp1691His
- NP_001394556.1:p.Asp1690His
- NP_001394557.1:p.Asp1690His
- NP_001394558.1:p.Asp1690His
- NP_001394559.1:p.Asp1690His
- NP_001394560.1:p.Asp1690His
- NP_001394561.1:p.Asp1690His
- NP_001394562.1:p.Asp1690His
- NP_001394563.1:p.Asp1690His
- NP_001394564.1:p.Asp1690His
- NP_001394565.1:p.Asp1690His
- NP_001394566.1:p.Asp1690His
- NP_001394567.1:p.Asp1690His
- NP_001394568.1:p.Asp1690His
- NP_001394569.1:p.Asp1690His
- NP_001394570.1:p.Asp1690His
- NP_001394571.1:p.Asp1690His
- NP_001394573.1:p.Asp1689His
- NP_001394574.1:p.Asp1689His
- NP_001394575.1:p.Asp1688His
- NP_001394576.1:p.Asp1687His
- NP_001394577.1:p.Asp1673His
- NP_001394578.1:p.Asp1672His
- NP_001394581.1:p.Gly1692Arg
- NP_001394582.1:p.Asp1666His
- NP_001394583.1:p.Asp1666His
- NP_001394584.1:p.Asp1666His
- NP_001394585.1:p.Asp1665His
- NP_001394586.1:p.Asp1665His
- NP_001394587.1:p.Asp1665His
- NP_001394588.1:p.Asp1664His
- NP_001394589.1:p.Asp1664His
- NP_001394590.1:p.Asp1664His
- NP_001394591.1:p.Asp1664His
- NP_001394592.1:p.Asp1664His
- NP_001394593.1:p.Asp1651His
- NP_001394594.1:p.Asp1651His
- NP_001394595.1:p.Asp1651His
- NP_001394596.1:p.Asp1651His
- NP_001394597.1:p.Asp1651His
- NP_001394598.1:p.Asp1651His
- NP_001394599.1:p.Asp1650His
- NP_001394600.1:p.Asp1650His
- NP_001394601.1:p.Asp1650His
- NP_001394602.1:p.Asp1650His
- NP_001394603.1:p.Asp1650His
- NP_001394604.1:p.Asp1650His
- NP_001394605.1:p.Asp1650His
- NP_001394606.1:p.Asp1650His
- NP_001394607.1:p.Asp1650His
- NP_001394608.1:p.Asp1650His
- NP_001394609.1:p.Asp1650His
- NP_001394610.1:p.Asp1649His
- NP_001394611.1:p.Asp1649His
- NP_001394612.1:p.Asp1649His
- NP_001394613.1:p.Asp1692His
- NP_001394614.1:p.Asp1649His
- NP_001394615.1:p.Asp1649His
- NP_001394616.1:p.Asp1649His
- NP_001394617.1:p.Asp1649His
- NP_001394618.1:p.Asp1649His
- NP_001394619.1:p.Asp1648His
- NP_001394620.1:p.Asp1648His
- NP_001394621.1:p.Asp1645His
- NP_001394623.1:p.Asp1645His
- NP_001394624.1:p.Asp1645His
- NP_001394625.1:p.Asp1645His
- NP_001394626.1:p.Asp1645His
- NP_001394627.1:p.Asp1645His
- NP_001394653.1:p.Asp1645His
- NP_001394654.1:p.Asp1645His
- NP_001394655.1:p.Asp1645His
- NP_001394656.1:p.Asp1645His
- NP_001394657.1:p.Asp1645His
- NP_001394658.1:p.Asp1645His
- NP_001394659.1:p.Asp1645His
- NP_001394660.1:p.Asp1645His
- NP_001394661.1:p.Asp1644His
- NP_001394662.1:p.Asp1644His
- NP_001394663.1:p.Asp1644His
- NP_001394664.1:p.Asp1644His
- NP_001394665.1:p.Asp1644His
- NP_001394666.1:p.Asp1644His
- NP_001394667.1:p.Asp1644His
- NP_001394668.1:p.Asp1644His
- NP_001394669.1:p.Asp1644His
- NP_001394670.1:p.Asp1644His
- NP_001394671.1:p.Asp1644His
- NP_001394672.1:p.Asp1644His
- NP_001394673.1:p.Asp1644His
- NP_001394674.1:p.Asp1644His
- NP_001394675.1:p.Asp1644His
- NP_001394676.1:p.Asp1644His
- NP_001394677.1:p.Asp1644His
- NP_001394678.1:p.Asp1644His
- NP_001394679.1:p.Asp1644His
- NP_001394680.1:p.Asp1644His
- NP_001394681.1:p.Asp1644His
- NP_001394767.1:p.Asp1643His
- NP_001394768.1:p.Asp1643His
- NP_001394770.1:p.Asp1643His
- NP_001394771.1:p.Asp1643His
- NP_001394772.1:p.Asp1643His
- NP_001394773.1:p.Asp1643His
- NP_001394774.1:p.Asp1643His
- NP_001394775.1:p.Asp1643His
- NP_001394776.1:p.Asp1643His
- NP_001394777.1:p.Asp1643His
- NP_001394778.1:p.Asp1643His
- NP_001394779.1:p.Asp1643His
- NP_001394780.1:p.Asp1643His
- NP_001394781.1:p.Asp1643His
- NP_001394782.1:p.Asp1643His
- NP_001394783.1:p.Asp1692His
- NP_001394787.1:p.Asp1691His
- NP_001394788.1:p.Asp1691His
- NP_001394789.1:p.Asp1691His
- NP_001394790.1:p.Asp1690His
- NP_001394791.1:p.Asp1625His
- NP_001394792.1:p.Gly1650Arg
- NP_001394803.1:p.Asp1623His
- NP_001394804.1:p.Asp1623His
- NP_001394808.1:p.Asp1622His
- NP_001394810.1:p.Asp1622His
- NP_001394811.1:p.Asp1622His
- NP_001394813.1:p.Asp1622His
- NP_001394814.1:p.Asp1622His
- NP_001394815.1:p.Asp1622His
- NP_001394816.1:p.Asp1622His
- NP_001394818.1:p.Asp1622His
- NP_001394823.1:p.Asp1621His
- NP_001394824.1:p.Asp1621His
- NP_001394825.1:p.Asp1621His
- NP_001394826.1:p.Asp1621His
- NP_001394827.1:p.Asp1621His
- NP_001394828.1:p.Asp1621His
- NP_001394829.1:p.Asp1621His
- NP_001394831.1:p.Asp1621His
- NP_001394833.1:p.Asp1621His
- NP_001394835.1:p.Asp1621His
- NP_001394836.1:p.Asp1621His
- NP_001394837.1:p.Asp1621His
- NP_001394838.1:p.Asp1621His
- NP_001394839.1:p.Asp1621His
- NP_001394844.1:p.Asp1620His
- NP_001394845.1:p.Asp1620His
- NP_001394846.1:p.Asp1620His
- NP_001394847.1:p.Asp1620His
- NP_001394848.1:p.Asp1651His
- NP_001394849.1:p.Asp1604His
- NP_001394850.1:p.Asp1604His
- NP_001394851.1:p.Asp1604His
- NP_001394852.1:p.Asp1604His
- NP_001394853.1:p.Asp1604His
- NP_001394854.1:p.Asp1604His
- NP_001394855.1:p.Asp1604His
- NP_001394856.1:p.Asp1603His
- NP_001394857.1:p.Asp1603His
- NP_001394858.1:p.Asp1603His
- NP_001394859.1:p.Asp1603His
- NP_001394860.1:p.Asp1603His
- NP_001394861.1:p.Asp1603His
- NP_001394862.1:p.Asp1603His
- NP_001394863.1:p.Asp1602His
- NP_001394864.1:p.Asp1602His
- NP_001394865.1:p.Asp1602His
- NP_001394866.1:p.Asp1651His
- NP_001394867.1:p.Asp1651His
- NP_001394868.1:p.Asp1650His
- NP_001394869.1:p.Asp1650His
- NP_001394870.1:p.Asp1649His
- NP_001394871.1:p.Asp1645His
- NP_001394872.1:p.Asp1644His
- NP_001394873.1:p.Asp1644His
- NP_001394874.1:p.Asp1644His
- NP_001394875.1:p.Asp1581His
- NP_001394876.1:p.Asp1581His
- NP_001394877.1:p.Asp1581His
- NP_001394878.1:p.Asp1581His
- NP_001394879.1:p.Asp1580His
- NP_001394880.1:p.Asp1580His
- NP_001394881.1:p.Asp1580His
- NP_001394882.1:p.Asp1580His
- NP_001394883.1:p.Asp1580His
- NP_001394884.1:p.Asp1580His
- NP_001394885.1:p.Asp1579His
- NP_001394886.1:p.Asp1579His
- NP_001394887.1:p.Asp1579His
- NP_001394888.1:p.Asp1565His
- NP_001394889.1:p.Asp1564His
- NP_001394891.1:p.Asp1564His
- NP_001394892.1:p.Asp1563His
- NP_001394893.1:p.Asp1538His
- NP_001394894.1:p.Asp1523His
- NP_001394895.1:p.Asp1396His
- NP_001394896.1:p.Asp1395His
- NP_001394897.1:p.Asp824His
- NP_001394898.1:p.Asp823His
- NP_001394899.1:p.Asp611His
- NP_001394900.1:p.Asp611His
- NP_001394901.1:p.Asp610His
- NP_001394902.1:p.Asp589His
- NP_001394903.1:p.Asp589His
- NP_001394904.1:p.Asp589His
- NP_001394905.1:p.Asp589His
- NP_001394906.1:p.Asp589His
- NP_001394907.1:p.Asp589His
- NP_001394908.1:p.Asp588His
- NP_001394909.1:p.Asp588His
- NP_001394910.1:p.Asp588His
- NP_001394911.1:p.Asp588His
- NP_001394912.1:p.Asp588His
- NP_001394913.1:p.Asp588His
- NP_001394914.1:p.Asp588His
- NP_001394915.1:p.Asp588His
- NP_001394919.1:p.Asp588His
- NP_001394920.1:p.Asp588His
- NP_001394921.1:p.Asp588His
- NP_001394922.1:p.Asp588His
- NP_001395321.1:p.Asp587His
- NP_001395325.1:p.Asp587His
- NP_001395326.1:p.Asp587His
- NP_001395327.1:p.Asp587His
- NP_001395328.1:p.Asp587His
- NP_001395329.1:p.Asp587His
- NP_001395330.1:p.Asp587His
- NP_001395331.1:p.Asp587His
- NP_001395332.1:p.Asp587His
- NP_001395333.1:p.Asp587His
- NP_001395335.1:p.Asp586His
- NP_001395336.1:p.Asp586His
- NP_001395337.1:p.Asp586His
- NP_001395338.1:p.Asp585His
- NP_001395339.1:p.Asp564His
- NP_001395340.1:p.Asp563His
- NP_001395341.1:p.Asp562His
- NP_001395342.1:p.Asp562His
- NP_001395343.1:p.Asp562His
- NP_001395344.1:p.Asp562His
- NP_001395345.1:p.Asp562His
- NP_001395347.1:p.Asp550His
- NP_001395348.1:p.Asp550His
- NP_001395349.1:p.Asp550His
- NP_001395350.1:p.Asp549His
- NP_001395351.1:p.Asp549His
- NP_001395352.1:p.Asp549His
- NP_001395353.1:p.Asp549His
- NP_001395354.1:p.Asp548His
- NP_001395355.1:p.Asp548His
- NP_001395356.1:p.Asp548His
- NP_001395357.1:p.Asp548His
- NP_001395358.1:p.Asp548His
- NP_001395359.1:p.Asp548His
- NP_001395360.1:p.Asp548His
- NP_001395361.1:p.Asp547His
- NP_001395362.1:p.Asp547His
- NP_001395363.1:p.Asp547His
- NP_001395364.1:p.Asp547His
- NP_001395365.1:p.Asp547His
- NP_001395366.1:p.Asp547His
- NP_001395367.1:p.Asp547His
- NP_001395368.1:p.Asp547His
- NP_001395369.1:p.Asp547His
- NP_001395370.1:p.Asp547His
- NP_001395371.1:p.Asp547His
- NP_001395372.1:p.Asp547His
- NP_001395373.1:p.Asp547His
- NP_001395374.1:p.Asp546His
- NP_001395375.1:p.Asp546His
- NP_001395376.1:p.Asp546His
- NP_001395377.1:p.Asp546His
- NP_001395379.1:p.Asp546His
- NP_001395380.1:p.Asp544His
- NP_001395381.1:p.Asp542His
- NP_001395382.1:p.Asp542His
- NP_001395383.1:p.Asp542His
- NP_001395384.1:p.Asp542His
- NP_001395385.1:p.Asp542His
- NP_001395386.1:p.Asp542His
- NP_001395387.1:p.Asp541His
- NP_001395388.1:p.Asp541His
- NP_001395389.1:p.Asp541His
- NP_001395390.1:p.Asp541His
- NP_001395391.1:p.Asp541His
- NP_001395392.1:p.Asp541His
- NP_001395393.1:p.Asp541His
- NP_001395394.1:p.Asp541His
- NP_001395395.1:p.Asp541His
- NP_001395396.1:p.Asp541His
- NP_001395397.1:p.Asp540His
- NP_001395398.1:p.Asp540His
- NP_001395399.1:p.Asp540His
- NP_001395401.1:p.Asp588His
- NP_001395402.1:p.Asp587His
- NP_001395403.1:p.Asp522His
- NP_001395404.1:p.Asp521His
- NP_001395405.1:p.Asp521His
- NP_001395407.1:p.Asp519His
- NP_001395408.1:p.Asp519His
- NP_001395409.1:p.Asp519His
- NP_001395410.1:p.Asp518His
- NP_001395411.1:p.Asp518His
- NP_001395412.1:p.Asp518His
- NP_001395413.1:p.Asp518His
- NP_001395414.1:p.Asp518His
- NP_001395418.1:p.Asp518His
- NP_001395419.1:p.Asp518His
- NP_001395420.1:p.Asp518His
- NP_001395421.1:p.Asp517His
- NP_001395422.1:p.Asp517His
- NP_001395423.1:p.Asp509His
- NP_001395424.1:p.Asp507His
- NP_001395425.1:p.Asp501His
- NP_001395426.1:p.Asp501His
- NP_001395427.1:p.Asp501His
- NP_001395428.1:p.Asp501His
- NP_001395429.1:p.Asp501His
- NP_001395430.1:p.Asp501His
- NP_001395431.1:p.Asp500His
- NP_001395432.1:p.Asp500His
- NP_001395433.1:p.Asp500His
- NP_001395434.1:p.Asp499His
- NP_001395435.1:p.Asp480His
- NP_001395436.1:p.Asp479His
- NP_001395437.1:p.Asp476His
- NP_001395438.1:p.Asp475His
- NP_001395439.1:p.Asp462His
- NP_001395440.1:p.Asp461His
- NP_001395441.1:p.Asp421His
- NP_001395442.1:p.Asp412His
- NP_009225.1:p.Asp1692His
- NP_009225.1:p.Asp1692His
- NP_009228.2:p.Asp1645His
- NP_009229.2:p.Asp588His
- NP_009229.2:p.Asp588His
- NP_009230.2:p.Asp588His
- NP_009231.2:p.Asp1713His
- NP_009235.2:p.Asp588His
- LRG_292t1:c.5074G>C
- LRG_292:g.150376G>C
- LRG_292p1:p.Asp1692His
- NC_000017.10:g.41219625C>G
- NM_007294.3:c.5074G>C
- NM_007298.3:c.1762G>C
- NR_027676.2:n.5251G>C
- U14680.1:n.5193G>C
This HGVS expression did not pass validation- Nucleotide change:
- 5193G>C
- Protein change:
- D1395H
- Links:
- dbSNP: rs80187739
- NCBI 1000 Genomes Browser:
- rs80187739
- Molecular consequence:
- NM_001407571.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5137G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5137G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5137G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5134G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5134G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.5065G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.5065G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.5062G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.5059G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.5017G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.5014G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.4996G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.4996G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.4996G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.4927G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.5068G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.4858G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.4858G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.4858G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.4858G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.4807G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4804G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4804G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4804G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.4951G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.4930G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4741G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4741G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4741G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4741G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4738G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4738G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4738G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4738G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4738G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4738G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4735G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4735G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4735G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4693G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4690G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4690G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4687G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.4612G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.4567G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4186G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4183G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2470G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2467G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.1831G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.1831G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.1828G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1756G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1756G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1756G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1753G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1690G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1687G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.1648G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.1648G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.1648G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.1645G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.1645G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.1645G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.1645G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.1639G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.1630G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.1618G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.1618G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.1618G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1759G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1555G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1555G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1555G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1549G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1549G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1525G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1519G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1501G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1501G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1501G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1501G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1501G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1501G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1498G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1498G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1498G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1495G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1438G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1435G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1426G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1423G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1384G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1381G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1261G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1234G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5137G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5251G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5074G>C, a MISSENSE variant, produced a function score of -1.58, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000322068 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Pathogenic (Dec 1, 2023) | germline | clinical testing | |
SCV000693542 | GeneKor MSA | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jan 1, 2020) | germline | clinical testing | |
SCV001133606 | Quest Diagnostics Nichols Institute San Juan Capistrano | criteria provided, single submitter (Quest Diagnostics criteria) | Likely pathogenic (Mar 1, 2019) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Lecarpentier J, Noguès C, Mouret-Fourme E, Gauthier-Villars M, Lasset C, Fricker JP, Caron O, Stoppa-Lyonnet D, Berthet P, Faivre L, Bonadona V, Buecher B, Coupier I, Gladieff L, Gesta P, Eisinger F, Frénay M, Luporsi E, Lortholary A, Colas C, Dugast C, Longy M, et al.
Breast Cancer Res. 2012 Jul 3;14(4):R99. doi: 10.1186/bcr3218.
- PMID:
- 22762150
- PMCID:
- PMC3680948
Details of each submission
From GeneDx, SCV000322068.7
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
Published functional studies demonstrate a damaging effect: impaired transcriptional activity and classified as non-functional based on a saturation genome editing (SGE) assay measuring cell growth (PMID: 20516115, 28781887, 30209399, 30765603, 33087888); Multifactorial likelihood analysis suggests this variant is pathogenic (PMID: 31131967); Not observed at significant frequency in large population cohorts (gnomAD); Also known as 5193G>C; This variant is associated with the following publications: (PMID: 22762150, 21769658, 29053726, 33629534, 31131967, 20516115, 14647443, 22505045, 25782689, 23239986, 25724305, 28781887, 30209399, 30765603, 33087888, 30787465, 25348405, 31447099, 30702160, 29446198, 29922827, 31794323, 31825140)
# | 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 GeneKor MSA, SCV000693542.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This variant is a single amino acid change from Aspartic acid to Histidine at amino acid residue 1692 of the BRCA1 gene. The Aspartic acid residue is highly conserved among species and it is located in a functional domain of the protein. There is a moderate physiochemical difference between Aspartic acid and Histidine (Grantham Score 81). This variant is present in population databases at a very low frequency (rs80187739, ExAC 0.002%) and it has been reported in the literature in individuals affected with breast and ovarian cancer (PMID: 21769658, 22762150, 22505045). This variant occurs at the last nucleotide of exon 16 of the BRCA1 coding sequence which is highly conserved in the human and other genomes, and is part of the consensus splice site. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681). Experimental studies have shown that this missense change disrupts normal splicing and leads to two alternately spliced products; one lucking exon 16 and another with retention of 153 base pairs of intron 16. This is expected to result in an absent or disrupted protein product and compromised transcription activation activity (PMID: 21769658, 22505045, 25724305). Algorithms developed to predict the effect of missense changes on protein structure and function suggest that this variant may be damaging to the protein. The mutation database ClinVar contains entries for this variant (Variation ID: 37633).
# | 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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133606.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (12) |
Description
The best available variant frequency is uninformative. Found in at least one symptomatic patient in literature. Predicted to negatively affect a known splice site. Assessment of experimental evidence suggests this variant results in abnormal protein function.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 26, 2024