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NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:
Jun 11, 2023
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:
RCV000048768.25

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
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)
Observations:
2

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000076781Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 11, 2023) 		germlineclinical testing

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

SCV000699198Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Mar 24, 2017) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV000966915Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely pathogenic
(Jan 12, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown22not providednot providednot providedclinical testing

Citations

PubMed

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

Statistical features of human exons and their flanking regions.

Zhang MQ.

Hum Mol Genet. 1998 May;7(5):919-32.

PubMed [citation]
PMID:
9536098
See all PubMed Citations (18)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000076781.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (13)

Description

For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this missense change results in two alternately spliced products, one with skipping of exon 16 and another with retention of 153 nucleotides of intron 16 and introduces a premature termination codon (PMID: 20516115, 21769658, 22505045, 23239986, 25724305, 30209399; Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 30209399). 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. ClinVar contains an entry for this variant (Variation ID: 37633). This missense change has been observed in individual(s) with BRCA1-related conditions (PMID: 21769658, 22505045, 22762150, 23239986, 28294317, 29446198, 30702160). This variant is present in population databases (rs80187739, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 1692 of the BRCA1 protein (p.Asp1692His). RNA analysis indicates that this missense change induces altered splicing and may result in an absent or disrupted protein product.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699198.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

Variant summary: The BRCA1 c.5074G>C (p.Asp1692His) variant involves the alteration of a conserved nucleotide at the exon 17-intron 17 junction and results in a missense subtitution. 5/5 in silico tools predict a damaging outcome for this variant. 5/5 splice prediction tools predict a significant impact on normal splicing and ESE finder predicts that this variant may affect several ESE sites at the locus. Functional studies have demonstrated in vitro splicing aberrations caused by the variant, including exon 17 skipping (Wappenschmidt_PLos One_2012; Ahlborn_BCRT_2015) and retention of 153bp of intron 17 that is predicted to result in a truncated protein (Ahlborn_BCRT_2015; Wappenschmidt_PLos One_2012; Thomassen_BRCA1&2_BCRT_2011). One study also showed a significant or total reduction of WT transcript via RT-PCR and agarose gel band sequence analysis (Thomassent_BRCA1&2_BCRT_2011). The variant lies within the BRCT domain and a functional study showed that a cell line with the variant had a 31% reduction in DNA repair (Coupier_Oncogene_2004). This variant was found in the large control database ExAC at a frequency of 0.0000083 (1/121082 control chromosomes), which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

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

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000966915.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (8)

Description

The p.Asp1692His variant in BRCA1 has been reported in at least 7 individuals with BRCA1-associated cancers (Lecarpentier 2012 PMID: 22762150, Houdayer 2012 PMID: 22505045, Thomassen 2012 PMID: 21769658, Wappenschmidt 2012 PMID: 23239986, Rebbeck 2018 PMID: 29446198, Breast Cancer Information Core (BIC) database: https://research.nhgri.nih.gov/bic/). This variant has also been identified in 1/10078 Ashkenazi Jewish chromosomes, 1/113660 European chromosomes and 1/34586 Latino chromosomes in gnomAD (http://gnomad.broadinstitute.org/). This frequency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer (HBOC) in the general population. This variant is located in the last three bases of the exon, which is part of the 5' splice region. Multiple functional studies using patient RNA provide some evidence that the p.Asp1692His variant causes aberrant splicing (Houdayer 2012 PMID: 22505045, Thomassen 2012 PMID: 21769658, Wappenschmidt 2012 PMID: 23239986, Ahlborn 2015 PMID: 25724305, Woods 2016 PMID: 28781887). In addition, computational prediction tools and conservation analysis suggest that the p.Asp1692His variant may impact the protein. Moreover, this variant was classified as pathogenic on June 18th 2019, by the ClinGen-approved ENIGMA expert panel (Variation ID 37633). In summary, although additional studies are required to fully establish its clinical significance, the p.Ala1623Gly variant is likely pathogenic. ACMG/AMP Criteria applied: PS4_Moderate; PM2_Supporting; PS3_Moderate, PP3.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not provided2not provided

Last Updated: Oct 26, 2024