NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Dec 1, 2023
Review status:: 2 stars out of maximum of 4 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:: RCV000256114.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)]

NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)

HGVS:

NC_000017.11:g.43067608C>G
NG_005905.2:g.150376G>C
NM_001407571.1:c.4861G>C
NM_001407581.1:c.5140G>C
NM_001407582.1:c.5140G>C
NM_001407583.1:c.5137G>C
NM_001407585.1:c.5137G>C
NM_001407587.1:c.5137G>C
NM_001407590.1:c.5134G>C
NM_001407591.1:c.5134G>C
NM_001407593.1:c.5074G>C
NM_001407594.1:c.5074G>C
NM_001407596.1:c.5074G>C
NM_001407597.1:c.5074G>C
NM_001407598.1:c.5074G>C
NM_001407602.1:c.5074G>C
NM_001407603.1:c.5074G>C
NM_001407605.1:c.5074G>C
NM_001407610.1:c.5071G>C
NM_001407611.1:c.5071G>C
NM_001407612.1:c.5071G>C
NM_001407613.1:c.5071G>C
NM_001407614.1:c.5071G>C
NM_001407615.1:c.5071G>C
NM_001407616.1:c.5071G>C
NM_001407617.1:c.5071G>C
NM_001407618.1:c.5071G>C
NM_001407619.1:c.5071G>C
NM_001407620.1:c.5071G>C
NM_001407621.1:c.5071G>C
NM_001407622.1:c.5071G>C
NM_001407623.1:c.5071G>C
NM_001407624.1:c.5071G>C
NM_001407625.1:c.5071G>C
NM_001407626.1:c.5071G>C
NM_001407627.1:c.5068G>C
NM_001407628.1:c.5068G>C
NM_001407629.1:c.5068G>C
NM_001407630.1:c.5068G>C
NM_001407631.1:c.5068G>C
NM_001407632.1:c.5068G>C
NM_001407633.1:c.5068G>C
NM_001407634.1:c.5068G>C
NM_001407635.1:c.5068G>C
NM_001407636.1:c.5068G>C
NM_001407637.1:c.5068G>C
NM_001407638.1:c.5068G>C
NM_001407639.1:c.5068G>C
NM_001407640.1:c.5068G>C
NM_001407641.1:c.5068G>C
NM_001407642.1:c.5068G>C
NM_001407644.1:c.5065G>C
NM_001407645.1:c.5065G>C
NM_001407646.1:c.5062G>C
NM_001407647.1:c.5059G>C
NM_001407648.1:c.5017G>C
NM_001407649.1:c.5014G>C
NM_001407652.1:c.5074G>C
NM_001407653.1:c.4996G>C
NM_001407654.1:c.4996G>C
NM_001407655.1:c.4996G>C
NM_001407656.1:c.4993G>C
NM_001407657.1:c.4993G>C
NM_001407658.1:c.4993G>C
NM_001407659.1:c.4990G>C
NM_001407660.1:c.4990G>C
NM_001407661.1:c.4990G>C
NM_001407662.1:c.4990G>C
NM_001407663.1:c.4990G>C
NM_001407664.1:c.4951G>C
NM_001407665.1:c.4951G>C
NM_001407666.1:c.4951G>C
NM_001407667.1:c.4951G>C
NM_001407668.1:c.4951G>C
NM_001407669.1:c.4951G>C
NM_001407670.1:c.4948G>C
NM_001407671.1:c.4948G>C
NM_001407672.1:c.4948G>C
NM_001407673.1:c.4948G>C
NM_001407674.1:c.4948G>C
NM_001407675.1:c.4948G>C
NM_001407676.1:c.4948G>C
NM_001407677.1:c.4948G>C
NM_001407678.1:c.4948G>C
NM_001407679.1:c.4948G>C
NM_001407680.1:c.4948G>C
NM_001407681.1:c.4945G>C
NM_001407682.1:c.4945G>C
NM_001407683.1:c.4945G>C
NM_001407684.1:c.5074G>C
NM_001407685.1:c.4945G>C
NM_001407686.1:c.4945G>C
NM_001407687.1:c.4945G>C
NM_001407688.1:c.4945G>C
NM_001407689.1:c.4945G>C
NM_001407690.1:c.4942G>C
NM_001407691.1:c.4942G>C
NM_001407692.1:c.4933G>C
NM_001407694.1:c.4933G>C
NM_001407695.1:c.4933G>C
NM_001407696.1:c.4933G>C
NM_001407697.1:c.4933G>C
NM_001407698.1:c.4933G>C
NM_001407724.1:c.4933G>C
NM_001407725.1:c.4933G>C
NM_001407726.1:c.4933G>C
NM_001407727.1:c.4933G>C
NM_001407728.1:c.4933G>C
NM_001407729.1:c.4933G>C
NM_001407730.1:c.4933G>C
NM_001407731.1:c.4933G>C
NM_001407732.1:c.4930G>C
NM_001407733.1:c.4930G>C
NM_001407734.1:c.4930G>C
NM_001407735.1:c.4930G>C
NM_001407736.1:c.4930G>C
NM_001407737.1:c.4930G>C
NM_001407738.1:c.4930G>C
NM_001407739.1:c.4930G>C
NM_001407740.1:c.4930G>C
NM_001407741.1:c.4930G>C
NM_001407742.1:c.4930G>C
NM_001407743.1:c.4930G>C
NM_001407744.1:c.4930G>C
NM_001407745.1:c.4930G>C
NM_001407746.1:c.4930G>C
NM_001407747.1:c.4930G>C
NM_001407748.1:c.4930G>C
NM_001407749.1:c.4930G>C
NM_001407750.1:c.4930G>C
NM_001407751.1:c.4930G>C
NM_001407752.1:c.4930G>C
NM_001407838.1:c.4927G>C
NM_001407839.1:c.4927G>C
NM_001407841.1:c.4927G>C
NM_001407842.1:c.4927G>C
NM_001407843.1:c.4927G>C
NM_001407844.1:c.4927G>C
NM_001407845.1:c.4927G>C
NM_001407846.1:c.4927G>C
NM_001407847.1:c.4927G>C
NM_001407848.1:c.4927G>C
NM_001407849.1:c.4927G>C
NM_001407850.1:c.4927G>C
NM_001407851.1:c.4927G>C
NM_001407852.1:c.4927G>C
NM_001407853.1:c.4927G>C
NM_001407854.1:c.5074G>C
NM_001407858.1:c.5071G>C
NM_001407859.1:c.5071G>C
NM_001407860.1:c.5071G>C
NM_001407861.1:c.5068G>C
NM_001407862.1:c.4873G>C
NM_001407863.1:c.4948G>C
NM_001407874.1:c.4867G>C
NM_001407875.1:c.4867G>C
NM_001407879.1:c.4864G>C
NM_001407881.1:c.4864G>C
NM_001407882.1:c.4864G>C
NM_001407884.1:c.4864G>C
NM_001407885.1:c.4864G>C
NM_001407886.1:c.4864G>C
NM_001407887.1:c.4864G>C
NM_001407889.1:c.4864G>C
NM_001407894.1:c.4861G>C
NM_001407895.1:c.4861G>C
NM_001407896.1:c.4861G>C
NM_001407897.1:c.4861G>C
NM_001407898.1:c.4861G>C
NM_001407899.1:c.4861G>C
NM_001407900.1:c.4861G>C
NM_001407902.1:c.4861G>C
NM_001407904.1:c.4861G>C
NM_001407906.1:c.4861G>C
NM_001407907.1:c.4861G>C
NM_001407908.1:c.4861G>C
NM_001407909.1:c.4861G>C
NM_001407910.1:c.4861G>C
NM_001407915.1:c.4858G>C
NM_001407916.1:c.4858G>C
NM_001407917.1:c.4858G>C
NM_001407918.1:c.4858G>C
NM_001407919.1:c.4951G>C
NM_001407920.1:c.4810G>C
NM_001407921.1:c.4810G>C
NM_001407922.1:c.4810G>C
NM_001407923.1:c.4810G>C
NM_001407924.1:c.4810G>C
NM_001407925.1:c.4810G>C
NM_001407926.1:c.4810G>C
NM_001407927.1:c.4807G>C
NM_001407928.1:c.4807G>C
NM_001407929.1:c.4807G>C
NM_001407930.1:c.4807G>C
NM_001407931.1:c.4807G>C
NM_001407932.1:c.4807G>C
NM_001407933.1:c.4807G>C
NM_001407934.1:c.4804G>C
NM_001407935.1:c.4804G>C
NM_001407936.1:c.4804G>C
NM_001407937.1:c.4951G>C
NM_001407938.1:c.4951G>C
NM_001407939.1:c.4948G>C
NM_001407940.1:c.4948G>C
NM_001407941.1:c.4945G>C
NM_001407942.1:c.4933G>C
NM_001407943.1:c.4930G>C
NM_001407944.1:c.4930G>C
NM_001407945.1:c.4930G>C
NM_001407946.1:c.4741G>C
NM_001407947.1:c.4741G>C
NM_001407948.1:c.4741G>C
NM_001407949.1:c.4741G>C
NM_001407950.1:c.4738G>C
NM_001407951.1:c.4738G>C
NM_001407952.1:c.4738G>C
NM_001407953.1:c.4738G>C
NM_001407954.1:c.4738G>C
NM_001407955.1:c.4738G>C
NM_001407956.1:c.4735G>C
NM_001407957.1:c.4735G>C
NM_001407958.1:c.4735G>C
NM_001407959.1:c.4693G>C
NM_001407960.1:c.4690G>C
NM_001407962.1:c.4690G>C
NM_001407963.1:c.4687G>C
NM_001407964.1:c.4612G>C
NM_001407965.1:c.4567G>C
NM_001407966.1:c.4186G>C
NM_001407967.1:c.4183G>C
NM_001407968.1:c.2470G>C
NM_001407969.1:c.2467G>C
NM_001407970.1:c.1831G>C
NM_001407971.1:c.1831G>C
NM_001407972.1:c.1828G>C
NM_001407973.1:c.1765G>C
NM_001407974.1:c.1765G>C
NM_001407975.1:c.1765G>C
NM_001407976.1:c.1765G>C
NM_001407977.1:c.1765G>C
NM_001407978.1:c.1765G>C
NM_001407979.1:c.1762G>C
NM_001407980.1:c.1762G>C
NM_001407981.1:c.1762G>C
NM_001407982.1:c.1762G>C
NM_001407983.1:c.1762G>C
NM_001407984.1:c.1762G>C
NM_001407985.1:c.1762G>C
NM_001407986.1:c.1762G>C
NM_001407990.1:c.1762G>C
NM_001407991.1:c.1762G>C
NM_001407992.1:c.1762G>C
NM_001407993.1:c.1762G>C
NM_001408392.1:c.1759G>C
NM_001408396.1:c.1759G>C
NM_001408397.1:c.1759G>C
NM_001408398.1:c.1759G>C
NM_001408399.1:c.1759G>C
NM_001408400.1:c.1759G>C
NM_001408401.1:c.1759G>C
NM_001408402.1:c.1759G>C
NM_001408403.1:c.1759G>C
NM_001408404.1:c.1759G>C
NM_001408406.1:c.1756G>C
NM_001408407.1:c.1756G>C
NM_001408408.1:c.1756G>C
NM_001408409.1:c.1753G>C
NM_001408410.1:c.1690G>C
NM_001408411.1:c.1687G>C
NM_001408412.1:c.1684G>C
NM_001408413.1:c.1684G>C
NM_001408414.1:c.1684G>C
NM_001408415.1:c.1684G>C
NM_001408416.1:c.1684G>C
NM_001408418.1:c.1648G>C
NM_001408419.1:c.1648G>C
NM_001408420.1:c.1648G>C
NM_001408421.1:c.1645G>C
NM_001408422.1:c.1645G>C
NM_001408423.1:c.1645G>C
NM_001408424.1:c.1645G>C
NM_001408425.1:c.1642G>C
NM_001408426.1:c.1642G>C
NM_001408427.1:c.1642G>C
NM_001408428.1:c.1642G>C
NM_001408429.1:c.1642G>C
NM_001408430.1:c.1642G>C
NM_001408431.1:c.1642G>C
NM_001408432.1:c.1639G>C
NM_001408433.1:c.1639G>C
NM_001408434.1:c.1639G>C
NM_001408435.1:c.1639G>C
NM_001408436.1:c.1639G>C
NM_001408437.1:c.1639G>C
NM_001408438.1:c.1639G>C
NM_001408439.1:c.1639G>C
NM_001408440.1:c.1639G>C
NM_001408441.1:c.1639G>C
NM_001408442.1:c.1639G>C
NM_001408443.1:c.1639G>C
NM_001408444.1:c.1639G>C
NM_001408445.1:c.1636G>C
NM_001408446.1:c.1636G>C
NM_001408447.1:c.1636G>C
NM_001408448.1:c.1636G>C
NM_001408450.1:c.1636G>C
NM_001408451.1:c.1630G>C
NM_001408452.1:c.1624G>C
NM_001408453.1:c.1624G>C
NM_001408454.1:c.1624G>C
NM_001408455.1:c.1624G>C
NM_001408456.1:c.1624G>C
NM_001408457.1:c.1624G>C
NM_001408458.1:c.1621G>C
NM_001408459.1:c.1621G>C
NM_001408460.1:c.1621G>C
NM_001408461.1:c.1621G>C
NM_001408462.1:c.1621G>C
NM_001408463.1:c.1621G>C
NM_001408464.1:c.1621G>C
NM_001408465.1:c.1621G>C
NM_001408466.1:c.1621G>C
NM_001408467.1:c.1621G>C
NM_001408468.1:c.1618G>C
NM_001408469.1:c.1618G>C
NM_001408470.1:c.1618G>C
NM_001408472.1:c.1762G>C
NM_001408473.1:c.1759G>C
NM_001408474.1:c.1564G>C
NM_001408475.1:c.1561G>C
NM_001408476.1:c.1561G>C
NM_001408478.1:c.1555G>C
NM_001408479.1:c.1555G>C
NM_001408480.1:c.1555G>C
NM_001408481.1:c.1552G>C
NM_001408482.1:c.1552G>C
NM_001408483.1:c.1552G>C
NM_001408484.1:c.1552G>C
NM_001408485.1:c.1552G>C
NM_001408489.1:c.1552G>C
NM_001408490.1:c.1552G>C
NM_001408491.1:c.1552G>C
NM_001408492.1:c.1549G>C
NM_001408493.1:c.1549G>C
NM_001408494.1:c.1525G>C
NM_001408495.1:c.1519G>C
NM_001408496.1:c.1501G>C
NM_001408497.1:c.1501G>C
NM_001408498.1:c.1501G>C
NM_001408499.1:c.1501G>C
NM_001408500.1:c.1501G>C
NM_001408501.1:c.1501G>C
NM_001408502.1:c.1498G>C
NM_001408503.1:c.1498G>C
NM_001408504.1:c.1498G>C
NM_001408505.1:c.1495G>C
NM_001408506.1:c.1438G>C
NM_001408507.1:c.1435G>C
NM_001408508.1:c.1426G>C
NM_001408509.1:c.1423G>C
NM_001408510.1:c.1384G>C
NM_001408511.1:c.1381G>C
NM_001408512.1:c.1261G>C
NM_001408513.1:c.1234G>C
NM_007294.4:c.5074G>CMANE SELECT
NM_007297.4:c.4933G>C
NM_007298.4:c.1762G>C
NM_007299.4:c.1762G>C
NM_007300.4:c.5137G>C
NM_007304.2:c.1762G>C
NP_001394500.1:p.Asp1621His
NP_001394510.1:p.Asp1714His
NP_001394511.1:p.Asp1714His
NP_001394512.1:p.Asp1713His
NP_001394514.1:p.Asp1713His
NP_001394516.1:p.Asp1713His
NP_001394519.1:p.Asp1712His
NP_001394520.1:p.Asp1712His
NP_001394522.1:p.Asp1692His
NP_001394523.1:p.Asp1692His
NP_001394525.1:p.Asp1692His
NP_001394526.1:p.Asp1692His
NP_001394527.1:p.Asp1692His
NP_001394531.1:p.Asp1692His
NP_001394532.1:p.Asp1692His
NP_001394534.1:p.Asp1692His
NP_001394539.1:p.Asp1691His
NP_001394540.1:p.Asp1691His
NP_001394541.1:p.Asp1691His
NP_001394542.1:p.Asp1691His
NP_001394543.1:p.Asp1691His
NP_001394544.1:p.Asp1691His
NP_001394545.1:p.Asp1691His
NP_001394546.1:p.Asp1691His
NP_001394547.1:p.Asp1691His
NP_001394548.1:p.Asp1691His
NP_001394549.1:p.Asp1691His
NP_001394550.1:p.Asp1691His
NP_001394551.1:p.Asp1691His
NP_001394552.1:p.Asp1691His
NP_001394553.1:p.Asp1691His
NP_001394554.1:p.Asp1691His
NP_001394555.1:p.Asp1691His
NP_001394556.1:p.Asp1690His
NP_001394557.1:p.Asp1690His
NP_001394558.1:p.Asp1690His
NP_001394559.1:p.Asp1690His
NP_001394560.1:p.Asp1690His
NP_001394561.1:p.Asp1690His
NP_001394562.1:p.Asp1690His
NP_001394563.1:p.Asp1690His
NP_001394564.1:p.Asp1690His
NP_001394565.1:p.Asp1690His
NP_001394566.1:p.Asp1690His
NP_001394567.1:p.Asp1690His
NP_001394568.1:p.Asp1690His
NP_001394569.1:p.Asp1690His
NP_001394570.1:p.Asp1690His
NP_001394571.1:p.Asp1690His
NP_001394573.1:p.Asp1689His
NP_001394574.1:p.Asp1689His
NP_001394575.1:p.Asp1688His
NP_001394576.1:p.Asp1687His
NP_001394577.1:p.Asp1673His
NP_001394578.1:p.Asp1672His
NP_001394581.1:p.Gly1692Arg
NP_001394582.1:p.Asp1666His
NP_001394583.1:p.Asp1666His
NP_001394584.1:p.Asp1666His
NP_001394585.1:p.Asp1665His
NP_001394586.1:p.Asp1665His
NP_001394587.1:p.Asp1665His
NP_001394588.1:p.Asp1664His
NP_001394589.1:p.Asp1664His
NP_001394590.1:p.Asp1664His
NP_001394591.1:p.Asp1664His
NP_001394592.1:p.Asp1664His
NP_001394593.1:p.Asp1651His
NP_001394594.1:p.Asp1651His
NP_001394595.1:p.Asp1651His
NP_001394596.1:p.Asp1651His
NP_001394597.1:p.Asp1651His
NP_001394598.1:p.Asp1651His
NP_001394599.1:p.Asp1650His
NP_001394600.1:p.Asp1650His
NP_001394601.1:p.Asp1650His
NP_001394602.1:p.Asp1650His
NP_001394603.1:p.Asp1650His
NP_001394604.1:p.Asp1650His
NP_001394605.1:p.Asp1650His
NP_001394606.1:p.Asp1650His
NP_001394607.1:p.Asp1650His
NP_001394608.1:p.Asp1650His
NP_001394609.1:p.Asp1650His
NP_001394610.1:p.Asp1649His
NP_001394611.1:p.Asp1649His
NP_001394612.1:p.Asp1649His
NP_001394613.1:p.Asp1692His
NP_001394614.1:p.Asp1649His
NP_001394615.1:p.Asp1649His
NP_001394616.1:p.Asp1649His
NP_001394617.1:p.Asp1649His
NP_001394618.1:p.Asp1649His
NP_001394619.1:p.Asp1648His
NP_001394620.1:p.Asp1648His
NP_001394621.1:p.Asp1645His
NP_001394623.1:p.Asp1645His
NP_001394624.1:p.Asp1645His
NP_001394625.1:p.Asp1645His
NP_001394626.1:p.Asp1645His
NP_001394627.1:p.Asp1645His
NP_001394653.1:p.Asp1645His
NP_001394654.1:p.Asp1645His
NP_001394655.1:p.Asp1645His
NP_001394656.1:p.Asp1645His
NP_001394657.1:p.Asp1645His
NP_001394658.1:p.Asp1645His
NP_001394659.1:p.Asp1645His
NP_001394660.1:p.Asp1645His
NP_001394661.1:p.Asp1644His
NP_001394662.1:p.Asp1644His
NP_001394663.1:p.Asp1644His
NP_001394664.1:p.Asp1644His
NP_001394665.1:p.Asp1644His
NP_001394666.1:p.Asp1644His
NP_001394667.1:p.Asp1644His
NP_001394668.1:p.Asp1644His
NP_001394669.1:p.Asp1644His
NP_001394670.1:p.Asp1644His
NP_001394671.1:p.Asp1644His
NP_001394672.1:p.Asp1644His
NP_001394673.1:p.Asp1644His
NP_001394674.1:p.Asp1644His
NP_001394675.1:p.Asp1644His
NP_001394676.1:p.Asp1644His
NP_001394677.1:p.Asp1644His
NP_001394678.1:p.Asp1644His
NP_001394679.1:p.Asp1644His
NP_001394680.1:p.Asp1644His
NP_001394681.1:p.Asp1644His
NP_001394767.1:p.Asp1643His
NP_001394768.1:p.Asp1643His
NP_001394770.1:p.Asp1643His
NP_001394771.1:p.Asp1643His
NP_001394772.1:p.Asp1643His
NP_001394773.1:p.Asp1643His
NP_001394774.1:p.Asp1643His
NP_001394775.1:p.Asp1643His
NP_001394776.1:p.Asp1643His
NP_001394777.1:p.Asp1643His
NP_001394778.1:p.Asp1643His
NP_001394779.1:p.Asp1643His
NP_001394780.1:p.Asp1643His
NP_001394781.1:p.Asp1643His
NP_001394782.1:p.Asp1643His
NP_001394783.1:p.Asp1692His
NP_001394787.1:p.Asp1691His
NP_001394788.1:p.Asp1691His
NP_001394789.1:p.Asp1691His
NP_001394790.1:p.Asp1690His
NP_001394791.1:p.Asp1625His
NP_001394792.1:p.Gly1650Arg
NP_001394803.1:p.Asp1623His
NP_001394804.1:p.Asp1623His
NP_001394808.1:p.Asp1622His
NP_001394810.1:p.Asp1622His
NP_001394811.1:p.Asp1622His
NP_001394813.1:p.Asp1622His
NP_001394814.1:p.Asp1622His
NP_001394815.1:p.Asp1622His
NP_001394816.1:p.Asp1622His
NP_001394818.1:p.Asp1622His
NP_001394823.1:p.Asp1621His
NP_001394824.1:p.Asp1621His
NP_001394825.1:p.Asp1621His
NP_001394826.1:p.Asp1621His
NP_001394827.1:p.Asp1621His
NP_001394828.1:p.Asp1621His
NP_001394829.1:p.Asp1621His
NP_001394831.1:p.Asp1621His
NP_001394833.1:p.Asp1621His
NP_001394835.1:p.Asp1621His
NP_001394836.1:p.Asp1621His
NP_001394837.1:p.Asp1621His
NP_001394838.1:p.Asp1621His
NP_001394839.1:p.Asp1621His
NP_001394844.1:p.Asp1620His
NP_001394845.1:p.Asp1620His
NP_001394846.1:p.Asp1620His
NP_001394847.1:p.Asp1620His
NP_001394848.1:p.Asp1651His
NP_001394849.1:p.Asp1604His
NP_001394850.1:p.Asp1604His
NP_001394851.1:p.Asp1604His
NP_001394852.1:p.Asp1604His
NP_001394853.1:p.Asp1604His
NP_001394854.1:p.Asp1604His
NP_001394855.1:p.Asp1604His
NP_001394856.1:p.Asp1603His
NP_001394857.1:p.Asp1603His
NP_001394858.1:p.Asp1603His
NP_001394859.1:p.Asp1603His
NP_001394860.1:p.Asp1603His
NP_001394861.1:p.Asp1603His
NP_001394862.1:p.Asp1603His
NP_001394863.1:p.Asp1602His
NP_001394864.1:p.Asp1602His
NP_001394865.1:p.Asp1602His
NP_001394866.1:p.Asp1651His
NP_001394867.1:p.Asp1651His
NP_001394868.1:p.Asp1650His
NP_001394869.1:p.Asp1650His
NP_001394870.1:p.Asp1649His
NP_001394871.1:p.Asp1645His
NP_001394872.1:p.Asp1644His
NP_001394873.1:p.Asp1644His
NP_001394874.1:p.Asp1644His
NP_001394875.1:p.Asp1581His
NP_001394876.1:p.Asp1581His
NP_001394877.1:p.Asp1581His
NP_001394878.1:p.Asp1581His
NP_001394879.1:p.Asp1580His
NP_001394880.1:p.Asp1580His
NP_001394881.1:p.Asp1580His
NP_001394882.1:p.Asp1580His
NP_001394883.1:p.Asp1580His
NP_001394884.1:p.Asp1580His
NP_001394885.1:p.Asp1579His
NP_001394886.1:p.Asp1579His
NP_001394887.1:p.Asp1579His
NP_001394888.1:p.Asp1565His
NP_001394889.1:p.Asp1564His
NP_001394891.1:p.Asp1564His
NP_001394892.1:p.Asp1563His
NP_001394893.1:p.Asp1538His
NP_001394894.1:p.Asp1523His
NP_001394895.1:p.Asp1396His
NP_001394896.1:p.Asp1395His
NP_001394897.1:p.Asp824His
NP_001394898.1:p.Asp823His
NP_001394899.1:p.Asp611His
NP_001394900.1:p.Asp611His
NP_001394901.1:p.Asp610His
NP_001394902.1:p.Asp589His
NP_001394903.1:p.Asp589His
NP_001394904.1:p.Asp589His
NP_001394905.1:p.Asp589His
NP_001394906.1:p.Asp589His
NP_001394907.1:p.Asp589His
NP_001394908.1:p.Asp588His
NP_001394909.1:p.Asp588His
NP_001394910.1:p.Asp588His
NP_001394911.1:p.Asp588His
NP_001394912.1:p.Asp588His
NP_001394913.1:p.Asp588His
NP_001394914.1:p.Asp588His
NP_001394915.1:p.Asp588His
NP_001394919.1:p.Asp588His
NP_001394920.1:p.Asp588His
NP_001394921.1:p.Asp588His
NP_001394922.1:p.Asp588His
NP_001395321.1:p.Asp587His
NP_001395325.1:p.Asp587His
NP_001395326.1:p.Asp587His
NP_001395327.1:p.Asp587His
NP_001395328.1:p.Asp587His
NP_001395329.1:p.Asp587His
NP_001395330.1:p.Asp587His
NP_001395331.1:p.Asp587His
NP_001395332.1:p.Asp587His
NP_001395333.1:p.Asp587His
NP_001395335.1:p.Asp586His
NP_001395336.1:p.Asp586His
NP_001395337.1:p.Asp586His
NP_001395338.1:p.Asp585His
NP_001395339.1:p.Asp564His
NP_001395340.1:p.Asp563His
NP_001395341.1:p.Asp562His
NP_001395342.1:p.Asp562His
NP_001395343.1:p.Asp562His
NP_001395344.1:p.Asp562His
NP_001395345.1:p.Asp562His
NP_001395347.1:p.Asp550His
NP_001395348.1:p.Asp550His
NP_001395349.1:p.Asp550His
NP_001395350.1:p.Asp549His
NP_001395351.1:p.Asp549His
NP_001395352.1:p.Asp549His
NP_001395353.1:p.Asp549His
NP_001395354.1:p.Asp548His
NP_001395355.1:p.Asp548His
NP_001395356.1:p.Asp548His
NP_001395357.1:p.Asp548His
NP_001395358.1:p.Asp548His
NP_001395359.1:p.Asp548His
NP_001395360.1:p.Asp548His
NP_001395361.1:p.Asp547His
NP_001395362.1:p.Asp547His
NP_001395363.1:p.Asp547His
NP_001395364.1:p.Asp547His
NP_001395365.1:p.Asp547His
NP_001395366.1:p.Asp547His
NP_001395367.1:p.Asp547His
NP_001395368.1:p.Asp547His
NP_001395369.1:p.Asp547His
NP_001395370.1:p.Asp547His
NP_001395371.1:p.Asp547His
NP_001395372.1:p.Asp547His
NP_001395373.1:p.Asp547His
NP_001395374.1:p.Asp546His
NP_001395375.1:p.Asp546His
NP_001395376.1:p.Asp546His
NP_001395377.1:p.Asp546His
NP_001395379.1:p.Asp546His
NP_001395380.1:p.Asp544His
NP_001395381.1:p.Asp542His
NP_001395382.1:p.Asp542His
NP_001395383.1:p.Asp542His
NP_001395384.1:p.Asp542His
NP_001395385.1:p.Asp542His
NP_001395386.1:p.Asp542His
NP_001395387.1:p.Asp541His
NP_001395388.1:p.Asp541His
NP_001395389.1:p.Asp541His
NP_001395390.1:p.Asp541His
NP_001395391.1:p.Asp541His
NP_001395392.1:p.Asp541His
NP_001395393.1:p.Asp541His
NP_001395394.1:p.Asp541His
NP_001395395.1:p.Asp541His
NP_001395396.1:p.Asp541His
NP_001395397.1:p.Asp540His
NP_001395398.1:p.Asp540His
NP_001395399.1:p.Asp540His
NP_001395401.1:p.Asp588His
NP_001395402.1:p.Asp587His
NP_001395403.1:p.Asp522His
NP_001395404.1:p.Asp521His
NP_001395405.1:p.Asp521His
NP_001395407.1:p.Asp519His
NP_001395408.1:p.Asp519His
NP_001395409.1:p.Asp519His
NP_001395410.1:p.Asp518His
NP_001395411.1:p.Asp518His
NP_001395412.1:p.Asp518His
NP_001395413.1:p.Asp518His
NP_001395414.1:p.Asp518His
NP_001395418.1:p.Asp518His
NP_001395419.1:p.Asp518His
NP_001395420.1:p.Asp518His
NP_001395421.1:p.Asp517His
NP_001395422.1:p.Asp517His
NP_001395423.1:p.Asp509His
NP_001395424.1:p.Asp507His
NP_001395425.1:p.Asp501His
NP_001395426.1:p.Asp501His
NP_001395427.1:p.Asp501His
NP_001395428.1:p.Asp501His
NP_001395429.1:p.Asp501His
NP_001395430.1:p.Asp501His
NP_001395431.1:p.Asp500His
NP_001395432.1:p.Asp500His
NP_001395433.1:p.Asp500His
NP_001395434.1:p.Asp499His
NP_001395435.1:p.Asp480His
NP_001395436.1:p.Asp479His
NP_001395437.1:p.Asp476His
NP_001395438.1:p.Asp475His
NP_001395439.1:p.Asp462His
NP_001395440.1:p.Asp461His
NP_001395441.1:p.Asp421His
NP_001395442.1:p.Asp412His
NP_009225.1:p.Asp1692His
NP_009225.1:p.Asp1692His
NP_009228.2:p.Asp1645His
NP_009229.2:p.Asp588His
NP_009229.2:p.Asp588His
NP_009230.2:p.Asp588His
NP_009231.2:p.Asp1713His
NP_009235.2:p.Asp588His
LRG_292t1:c.5074G>C
LRG_292:g.150376G>C
LRG_292p1:p.Asp1692His
NC_000017.10:g.41219625C>G
NM_007294.3:c.5074G>C
NM_007298.3:c.1762G>C
NR_027676.2:n.5251G>C
U14680.1:n.5193G>C

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000322068	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 1, 2023)	germline	clinical testing	Citation Link,
SCV000693542	GeneKor MSA	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001133606	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely pathogenic (Mar 1, 2019)	germline	clinical testing	PubMed (12) [See all records that cite these PMIDs] 22762150, 23239986, 28294317, 25724305, 25782689, 21147198, 28781887, 22505045, 21769658, 20516115, 16267036, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000322068

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Dec 1, 2023)

germline

clinical testing

Citation Link,

SCV000693542

GeneKor MSA

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2020)

germline

clinical testing

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

SCV001133606

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely pathogenic
(Mar 1, 2019)

germline

clinical testing

PubMed (12)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

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 (13)

Details of each submission

From GeneDx, SCV000322068.7

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

Description

Published functional studies demonstrate a damaging effect: impaired transcriptional activity and classified as non-functional based on a saturation genome editing (SGE) assay measuring cell growth (PMID: 20516115, 28781887, 30209399, 30765603, 33087888); Multifactorial likelihood analysis suggests this variant is pathogenic (PMID: 31131967); Not observed at significant frequency in large population cohorts (gnomAD); Also known as 5193G>C; This variant is associated with the following publications: (PMID: 22762150, 21769658, 29053726, 33629534, 31131967, 20516115, 14647443, 22505045, 25782689, 23239986, 25724305, 28781887, 30209399, 30765603, 33087888, 30787465, 25348405, 31447099, 30702160, 29446198, 29922827, 31794323, 31825140)

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

From GeneKor MSA, SCV000693542.2

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

Description

This variant is a single amino acid change from Aspartic acid to Histidine at amino acid residue 1692 of the BRCA1 gene. The Aspartic acid residue is highly conserved among species and it is located in a functional domain of the protein. There is a moderate physiochemical difference between Aspartic acid and Histidine (Grantham Score 81). This variant is present in population databases at a very low frequency (rs80187739, ExAC 0.002%) and it has been reported in the literature in individuals affected with breast and ovarian cancer (PMID: 21769658, 22762150, 22505045). This variant occurs at the last nucleotide of exon 16 of the BRCA1 coding sequence which is highly conserved in the human and other genomes, and is part of the consensus splice site. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681). Experimental studies have shown that this missense change disrupts normal splicing and leads to two alternately spliced products; one lucking exon 16 and another with retention of 153 base pairs of intron 16. This is expected to result in an absent or disrupted protein product and compromised transcription activation activity (PMID: 21769658, 22505045, 25724305). Algorithms developed to predict the effect of missense changes on protein structure and function suggest that this variant may be damaging to the protein. The mutation database ClinVar contains entries for this variant (Variation ID: 37633).

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133606.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (12)

Description

The best available variant frequency is uninformative. Found in at least one symptomatic patient in literature. Predicted to negatively affect a known splice site. Assessment of experimental evidence suggests this variant results in abnormal protein function.

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

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine