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

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 5, 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:
RCV000220578.17

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)

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000277819Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 5, 2023) 		germlineclinical testing

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

Citation Link,

SCV001346671Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 11, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations.

Coupier I, Baldeyron C, Rousseau A, Mosseri V, Pages-Berhouet S, Caux-Moncoutier V, Papadopoulo D, Stoppa-Lyonnet D.

Oncogene. 2004 Jan 29;23(4):914-9.

PubMed [citation]
PMID:
14647443

Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

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.

PubMed [citation]
PMID:
22762150
PMCID:
PMC3680948
See all PubMed Citations (11)

Details of each submission

From Ambry Genetics, SCV000277819.7

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

Description

The c.5074G>C pathogenic mutation (also known as p.D1692H), located in coding exon 15 of the BRCA1 gene, results from a G to C substitution at nucleotide position 5074. The amino acid change results in aspartic acid to histidine at codon 1692, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 15, which makes it likely to have some effect on normal mRNA splicing. This alteration has been identified in multiple families affected with phenotypes consistent with hereditary breast and ovarian cancer (HBOC) syndrome (Lecarpentier J et al. Breast Cancer Res. 2012 Jul 3;14(4):R99; Thomassen M et al. Breast Cancer Res Treat. 2012 Apr;132(3):1009-23). This variant has also been shown by functional splicing assays to result in abnormal protein transcripts by either skipping of coding exon 15 or in-frame retention of a portion of intron 15 (Ambry internal data; Houdayer C et al. Hum Mutat. 2012 Aug;33(8):1228-38; Wappenschmidt B et al. PLoS One. 2012;7(12):e50800; Ahlborn LB et al. Breast Cancer Res. Treat., 2015 Apr;150:289-98). One functional study found that this nucleotide substitution is non-functional in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature 2018 Oct;562(7726):217-222). Note that this alteration is also referred to as 5193G>C in published literature. Based on the available evidence, this alteration is classified as a pathogenic mutation.

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

From Color Diagnostics, LLC DBA Color Health, SCV001346671.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

This missense variant replaces aspartic acid with histidine at codon 1692 of the BRCA1 protein. Computational prediction tool suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). RNA studies reported that this variant causes aberrant mRNA splicing that introduces either a frameshift and/or a premature termination codon in patient RNA and minigene splicing assay (PMID: 21769658, 22505045, 25724305). Functional studies also have reported that this variant impacts BRCA1 function in homology-directed repair, transcription activation and haploid cell proliferation assays (PMID: 20516115, 30209399, 32546644). This variant has been reported in at least six individuals affected with breast and/or ovarian cancer (PMID: 21769658, 23239986, 28294317, https://doi.org/10.1515/tjb-2019-0424). This variant has also been identified in 3/251348 chromosomes in the general population by the Genome Aggregation Database (gnomAD). In addition, different variants affecting the same position (c.5074G>A, c.5074G>T) are considered to be disease-causing (ClinVar variation ID: 37632, 55376), suggesting that the nucleotide at this position is important for normal RNA splicing. Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Sep 16, 2024