NM_007294.4(BRCA1):c.4390C>G (p.Pro1464Ala) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Mar 22, 2023
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV002332585.4
Allele description [Variation Report for NM_007294.4(BRCA1):c.4390C>G (p.Pro1464Ala)]
NM_007294.4(BRCA1):c.4390C>G (p.Pro1464Ala)
- 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.4390C>G (p.Pro1464Ala)
- HGVS:
- NC_000017.11:g.43076582G>C
- NG_005905.2:g.141402C>G
- NM_001407571.1:c.4177C>G
- NM_001407581.1:c.4456C>G
- NM_001407582.1:c.4456C>G
- NM_001407583.1:c.4453C>G
- NM_001407585.1:c.4453C>G
- NM_001407587.1:c.4453C>G
- NM_001407590.1:c.4450C>G
- NM_001407591.1:c.4450C>G
- NM_001407593.1:c.4390C>G
- NM_001407594.1:c.4390C>G
- NM_001407596.1:c.4390C>G
- NM_001407597.1:c.4390C>G
- NM_001407598.1:c.4390C>G
- NM_001407602.1:c.4390C>G
- NM_001407603.1:c.4390C>G
- NM_001407605.1:c.4390C>G
- NM_001407610.1:c.4387C>G
- NM_001407611.1:c.4387C>G
- NM_001407612.1:c.4387C>G
- NM_001407613.1:c.4387C>G
- NM_001407614.1:c.4387C>G
- NM_001407615.1:c.4387C>G
- NM_001407616.1:c.4387C>G
- NM_001407617.1:c.4387C>G
- NM_001407618.1:c.4387C>G
- NM_001407619.1:c.4387C>G
- NM_001407620.1:c.4387C>G
- NM_001407621.1:c.4387C>G
- NM_001407622.1:c.4387C>G
- NM_001407623.1:c.4387C>G
- NM_001407624.1:c.4387C>G
- NM_001407625.1:c.4387C>G
- NM_001407626.1:c.4387C>G
- NM_001407627.1:c.4384C>G
- NM_001407628.1:c.4384C>G
- NM_001407629.1:c.4384C>G
- NM_001407630.1:c.4384C>G
- NM_001407631.1:c.4384C>G
- NM_001407632.1:c.4384C>G
- NM_001407633.1:c.4384C>G
- NM_001407634.1:c.4384C>G
- NM_001407635.1:c.4384C>G
- NM_001407636.1:c.4384C>G
- NM_001407637.1:c.4384C>G
- NM_001407638.1:c.4384C>G
- NM_001407639.1:c.4384C>G
- NM_001407640.1:c.4384C>G
- NM_001407641.1:c.4384C>G
- NM_001407642.1:c.4384C>G
- NM_001407644.1:c.4381C>G
- NM_001407645.1:c.4381C>G
- NM_001407646.1:c.4378C>G
- NM_001407647.1:c.4375C>G
- NM_001407648.1:c.4333C>G
- NM_001407649.1:c.4330C>G
- NM_001407652.1:c.4390C>G
- NM_001407653.1:c.4312C>G
- NM_001407654.1:c.4312C>G
- NM_001407655.1:c.4312C>G
- NM_001407656.1:c.4309C>G
- NM_001407657.1:c.4309C>G
- NM_001407658.1:c.4309C>G
- NM_001407659.1:c.4306C>G
- NM_001407660.1:c.4306C>G
- NM_001407661.1:c.4306C>G
- NM_001407662.1:c.4306C>G
- NM_001407663.1:c.4306C>G
- NM_001407664.1:c.4267C>G
- NM_001407665.1:c.4267C>G
- NM_001407666.1:c.4267C>G
- NM_001407667.1:c.4267C>G
- NM_001407668.1:c.4267C>G
- NM_001407669.1:c.4267C>G
- NM_001407670.1:c.4264C>G
- NM_001407671.1:c.4264C>G
- NM_001407672.1:c.4264C>G
- NM_001407673.1:c.4264C>G
- NM_001407674.1:c.4264C>G
- NM_001407675.1:c.4264C>G
- NM_001407676.1:c.4264C>G
- NM_001407677.1:c.4264C>G
- NM_001407678.1:c.4264C>G
- NM_001407679.1:c.4264C>G
- NM_001407680.1:c.4264C>G
- NM_001407681.1:c.4261C>G
- NM_001407682.1:c.4261C>G
- NM_001407683.1:c.4261C>G
- NM_001407684.1:c.4390C>G
- NM_001407685.1:c.4261C>G
- NM_001407686.1:c.4261C>G
- NM_001407687.1:c.4261C>G
- NM_001407688.1:c.4261C>G
- NM_001407689.1:c.4261C>G
- NM_001407690.1:c.4258C>G
- NM_001407691.1:c.4258C>G
- NM_001407692.1:c.4249C>G
- NM_001407694.1:c.4249C>G
- NM_001407695.1:c.4249C>G
- NM_001407696.1:c.4249C>G
- NM_001407697.1:c.4249C>G
- NM_001407698.1:c.4249C>G
- NM_001407724.1:c.4249C>G
- NM_001407725.1:c.4249C>G
- NM_001407726.1:c.4249C>G
- NM_001407727.1:c.4249C>G
- NM_001407728.1:c.4249C>G
- NM_001407729.1:c.4249C>G
- NM_001407730.1:c.4249C>G
- NM_001407731.1:c.4249C>G
- NM_001407732.1:c.4246C>G
- NM_001407733.1:c.4246C>G
- NM_001407734.1:c.4246C>G
- NM_001407735.1:c.4246C>G
- NM_001407736.1:c.4246C>G
- NM_001407737.1:c.4246C>G
- NM_001407738.1:c.4246C>G
- NM_001407739.1:c.4246C>G
- NM_001407740.1:c.4246C>G
- NM_001407741.1:c.4246C>G
- NM_001407742.1:c.4246C>G
- NM_001407743.1:c.4246C>G
- NM_001407744.1:c.4246C>G
- NM_001407745.1:c.4246C>G
- NM_001407746.1:c.4246C>G
- NM_001407747.1:c.4246C>G
- NM_001407748.1:c.4246C>G
- NM_001407749.1:c.4246C>G
- NM_001407750.1:c.4246C>G
- NM_001407751.1:c.4246C>G
- NM_001407752.1:c.4246C>G
- NM_001407838.1:c.4243C>G
- NM_001407839.1:c.4243C>G
- NM_001407841.1:c.4243C>G
- NM_001407842.1:c.4243C>G
- NM_001407843.1:c.4243C>G
- NM_001407844.1:c.4243C>G
- NM_001407845.1:c.4243C>G
- NM_001407846.1:c.4243C>G
- NM_001407847.1:c.4243C>G
- NM_001407848.1:c.4243C>G
- NM_001407849.1:c.4243C>G
- NM_001407850.1:c.4243C>G
- NM_001407851.1:c.4243C>G
- NM_001407852.1:c.4243C>G
- NM_001407853.1:c.4243C>G
- NM_001407854.1:c.4390C>G
- NM_001407858.1:c.4387C>G
- NM_001407859.1:c.4387C>G
- NM_001407860.1:c.4387C>G
- NM_001407861.1:c.4384C>G
- NM_001407862.1:c.4189C>G
- NM_001407863.1:c.4264C>G
- NM_001407874.1:c.4183C>G
- NM_001407875.1:c.4183C>G
- NM_001407879.1:c.4180C>G
- NM_001407881.1:c.4180C>G
- NM_001407882.1:c.4180C>G
- NM_001407884.1:c.4180C>G
- NM_001407885.1:c.4180C>G
- NM_001407886.1:c.4180C>G
- NM_001407887.1:c.4180C>G
- NM_001407889.1:c.4180C>G
- NM_001407894.1:c.4177C>G
- NM_001407895.1:c.4177C>G
- NM_001407896.1:c.4177C>G
- NM_001407897.1:c.4177C>G
- NM_001407898.1:c.4177C>G
- NM_001407899.1:c.4177C>G
- NM_001407900.1:c.4177C>G
- NM_001407902.1:c.4177C>G
- NM_001407904.1:c.4177C>G
- NM_001407906.1:c.4177C>G
- NM_001407907.1:c.4177C>G
- NM_001407908.1:c.4177C>G
- NM_001407909.1:c.4177C>G
- NM_001407910.1:c.4177C>G
- NM_001407915.1:c.4174C>G
- NM_001407916.1:c.4174C>G
- NM_001407917.1:c.4174C>G
- NM_001407918.1:c.4174C>G
- NM_001407919.1:c.4267C>G
- NM_001407920.1:c.4126C>G
- NM_001407921.1:c.4126C>G
- NM_001407922.1:c.4126C>G
- NM_001407923.1:c.4126C>G
- NM_001407924.1:c.4126C>G
- NM_001407925.1:c.4126C>G
- NM_001407926.1:c.4126C>G
- NM_001407927.1:c.4123C>G
- NM_001407928.1:c.4123C>G
- NM_001407929.1:c.4123C>G
- NM_001407930.1:c.4123C>G
- NM_001407931.1:c.4123C>G
- NM_001407932.1:c.4123C>G
- NM_001407933.1:c.4123C>G
- NM_001407934.1:c.4120C>G
- NM_001407935.1:c.4120C>G
- NM_001407936.1:c.4120C>G
- NM_001407937.1:c.4267C>G
- NM_001407938.1:c.4267C>G
- NM_001407939.1:c.4264C>G
- NM_001407940.1:c.4264C>G
- NM_001407941.1:c.4261C>G
- NM_001407942.1:c.4249C>G
- NM_001407943.1:c.4246C>G
- NM_001407944.1:c.4246C>G
- NM_001407945.1:c.4246C>G
- NM_001407946.1:c.4057C>G
- NM_001407947.1:c.4057C>G
- NM_001407948.1:c.4057C>G
- NM_001407949.1:c.4057C>G
- NM_001407950.1:c.4054C>G
- NM_001407951.1:c.4054C>G
- NM_001407952.1:c.4054C>G
- NM_001407953.1:c.4054C>G
- NM_001407954.1:c.4054C>G
- NM_001407955.1:c.4054C>G
- NM_001407956.1:c.4051C>G
- NM_001407957.1:c.4051C>G
- NM_001407958.1:c.4051C>G
- NM_001407959.1:c.4009C>G
- NM_001407960.1:c.4006C>G
- NM_001407962.1:c.4006C>G
- NM_001407963.1:c.4003C>G
- NM_001407965.1:c.3883C>G
- NM_001407966.1:c.3502C>G
- NM_001407967.1:c.3499C>G
- NM_001407968.1:c.1786C>G
- NM_001407969.1:c.1783C>G
- NM_001407970.1:c.1147C>G
- NM_001407971.1:c.1147C>G
- NM_001407972.1:c.1144C>G
- NM_001407973.1:c.1081C>G
- NM_001407974.1:c.1081C>G
- NM_001407975.1:c.1081C>G
- NM_001407976.1:c.1081C>G
- NM_001407977.1:c.1081C>G
- NM_001407978.1:c.1081C>G
- NM_001407979.1:c.1078C>G
- NM_001407980.1:c.1078C>G
- NM_001407981.1:c.1078C>G
- NM_001407982.1:c.1078C>G
- NM_001407983.1:c.1078C>G
- NM_001407984.1:c.1078C>G
- NM_001407985.1:c.1078C>G
- NM_001407986.1:c.1078C>G
- NM_001407990.1:c.1078C>G
- NM_001407991.1:c.1078C>G
- NM_001407992.1:c.1078C>G
- NM_001407993.1:c.1078C>G
- NM_001408392.1:c.1075C>G
- NM_001408396.1:c.1075C>G
- NM_001408397.1:c.1075C>G
- NM_001408398.1:c.1075C>G
- NM_001408399.1:c.1075C>G
- NM_001408400.1:c.1075C>G
- NM_001408401.1:c.1075C>G
- NM_001408402.1:c.1075C>G
- NM_001408403.1:c.1075C>G
- NM_001408404.1:c.1075C>G
- NM_001408406.1:c.1072C>G
- NM_001408407.1:c.1072C>G
- NM_001408408.1:c.1072C>G
- NM_001408409.1:c.1069C>G
- NM_001408410.1:c.1006C>G
- NM_001408411.1:c.1003C>G
- NM_001408412.1:c.1000C>G
- NM_001408413.1:c.1000C>G
- NM_001408414.1:c.1000C>G
- NM_001408415.1:c.1000C>G
- NM_001408416.1:c.1000C>G
- NM_001408418.1:c.964C>G
- NM_001408419.1:c.964C>G
- NM_001408420.1:c.964C>G
- NM_001408421.1:c.961C>G
- NM_001408422.1:c.961C>G
- NM_001408423.1:c.961C>G
- NM_001408424.1:c.961C>G
- NM_001408425.1:c.958C>G
- NM_001408426.1:c.958C>G
- NM_001408427.1:c.958C>G
- NM_001408428.1:c.958C>G
- NM_001408429.1:c.958C>G
- NM_001408430.1:c.958C>G
- NM_001408431.1:c.958C>G
- NM_001408432.1:c.955C>G
- NM_001408433.1:c.955C>G
- NM_001408434.1:c.955C>G
- NM_001408435.1:c.955C>G
- NM_001408436.1:c.955C>G
- NM_001408437.1:c.955C>G
- NM_001408438.1:c.955C>G
- NM_001408439.1:c.955C>G
- NM_001408440.1:c.955C>G
- NM_001408441.1:c.955C>G
- NM_001408442.1:c.955C>G
- NM_001408443.1:c.955C>G
- NM_001408444.1:c.955C>G
- NM_001408445.1:c.952C>G
- NM_001408446.1:c.952C>G
- NM_001408447.1:c.952C>G
- NM_001408448.1:c.952C>G
- NM_001408450.1:c.952C>G
- NM_001408451.1:c.946C>G
- NM_001408452.1:c.940C>G
- NM_001408453.1:c.940C>G
- NM_001408454.1:c.940C>G
- NM_001408455.1:c.940C>G
- NM_001408456.1:c.940C>G
- NM_001408457.1:c.940C>G
- NM_001408458.1:c.937C>G
- NM_001408459.1:c.937C>G
- NM_001408460.1:c.937C>G
- NM_001408461.1:c.937C>G
- NM_001408462.1:c.937C>G
- NM_001408463.1:c.937C>G
- NM_001408464.1:c.937C>G
- NM_001408465.1:c.937C>G
- NM_001408466.1:c.937C>G
- NM_001408467.1:c.937C>G
- NM_001408468.1:c.934C>G
- NM_001408469.1:c.934C>G
- NM_001408470.1:c.934C>G
- NM_001408472.1:c.1078C>G
- NM_001408473.1:c.1075C>G
- NM_001408474.1:c.880C>G
- NM_001408475.1:c.877C>G
- NM_001408476.1:c.877C>G
- NM_001408478.1:c.871C>G
- NM_001408479.1:c.871C>G
- NM_001408480.1:c.871C>G
- NM_001408481.1:c.868C>G
- NM_001408482.1:c.868C>G
- NM_001408483.1:c.868C>G
- NM_001408484.1:c.868C>G
- NM_001408485.1:c.868C>G
- NM_001408489.1:c.868C>G
- NM_001408490.1:c.868C>G
- NM_001408491.1:c.868C>G
- NM_001408492.1:c.865C>G
- NM_001408493.1:c.865C>G
- NM_001408494.1:c.841C>G
- NM_001408495.1:c.835C>G
- NM_001408496.1:c.817C>G
- NM_001408497.1:c.817C>G
- NM_001408498.1:c.817C>G
- NM_001408499.1:c.817C>G
- NM_001408500.1:c.817C>G
- NM_001408501.1:c.817C>G
- NM_001408502.1:c.814C>G
- NM_001408503.1:c.814C>G
- NM_001408504.1:c.814C>G
- NM_001408505.1:c.811C>G
- NM_001408506.1:c.754C>G
- NM_001408507.1:c.751C>G
- NM_001408508.1:c.742C>G
- NM_001408509.1:c.739C>G
- NM_001408510.1:c.700C>G
- NM_001408511.1:c.697C>G
- NM_001408512.1:c.577C>G
- NM_007294.4:c.4390C>GMANE SELECT
- NM_007297.4:c.4249C>G
- NM_007298.4:c.1078C>G
- NM_007299.4:c.1078C>G
- NM_007300.4:c.4453C>G
- NM_007304.2:c.1078C>G
- NP_001394500.1:p.Pro1393Ala
- NP_001394510.1:p.Pro1486Ala
- NP_001394511.1:p.Pro1486Ala
- NP_001394512.1:p.Pro1485Ala
- NP_001394514.1:p.Pro1485Ala
- NP_001394516.1:p.Pro1485Ala
- NP_001394519.1:p.Pro1484Ala
- NP_001394520.1:p.Pro1484Ala
- NP_001394522.1:p.Pro1464Ala
- NP_001394523.1:p.Pro1464Ala
- NP_001394525.1:p.Pro1464Ala
- NP_001394526.1:p.Pro1464Ala
- NP_001394527.1:p.Pro1464Ala
- NP_001394531.1:p.Pro1464Ala
- NP_001394532.1:p.Pro1464Ala
- NP_001394534.1:p.Pro1464Ala
- NP_001394539.1:p.Pro1463Ala
- NP_001394540.1:p.Pro1463Ala
- NP_001394541.1:p.Pro1463Ala
- NP_001394542.1:p.Pro1463Ala
- NP_001394543.1:p.Pro1463Ala
- NP_001394544.1:p.Pro1463Ala
- NP_001394545.1:p.Pro1463Ala
- NP_001394546.1:p.Pro1463Ala
- NP_001394547.1:p.Pro1463Ala
- NP_001394548.1:p.Pro1463Ala
- NP_001394549.1:p.Pro1463Ala
- NP_001394550.1:p.Pro1463Ala
- NP_001394551.1:p.Pro1463Ala
- NP_001394552.1:p.Pro1463Ala
- NP_001394553.1:p.Pro1463Ala
- NP_001394554.1:p.Pro1463Ala
- NP_001394555.1:p.Pro1463Ala
- NP_001394556.1:p.Pro1462Ala
- NP_001394557.1:p.Pro1462Ala
- NP_001394558.1:p.Pro1462Ala
- NP_001394559.1:p.Pro1462Ala
- NP_001394560.1:p.Pro1462Ala
- NP_001394561.1:p.Pro1462Ala
- NP_001394562.1:p.Pro1462Ala
- NP_001394563.1:p.Pro1462Ala
- NP_001394564.1:p.Pro1462Ala
- NP_001394565.1:p.Pro1462Ala
- NP_001394566.1:p.Pro1462Ala
- NP_001394567.1:p.Pro1462Ala
- NP_001394568.1:p.Pro1462Ala
- NP_001394569.1:p.Pro1462Ala
- NP_001394570.1:p.Pro1462Ala
- NP_001394571.1:p.Pro1462Ala
- NP_001394573.1:p.Pro1461Ala
- NP_001394574.1:p.Pro1461Ala
- NP_001394575.1:p.Pro1460Ala
- NP_001394576.1:p.Pro1459Ala
- NP_001394577.1:p.Pro1445Ala
- NP_001394578.1:p.Pro1444Ala
- NP_001394581.1:p.Pro1464Ala
- NP_001394582.1:p.Pro1438Ala
- NP_001394583.1:p.Pro1438Ala
- NP_001394584.1:p.Pro1438Ala
- NP_001394585.1:p.Pro1437Ala
- NP_001394586.1:p.Pro1437Ala
- NP_001394587.1:p.Pro1437Ala
- NP_001394588.1:p.Pro1436Ala
- NP_001394589.1:p.Pro1436Ala
- NP_001394590.1:p.Pro1436Ala
- NP_001394591.1:p.Pro1436Ala
- NP_001394592.1:p.Pro1436Ala
- NP_001394593.1:p.Pro1423Ala
- NP_001394594.1:p.Pro1423Ala
- NP_001394595.1:p.Pro1423Ala
- NP_001394596.1:p.Pro1423Ala
- NP_001394597.1:p.Pro1423Ala
- NP_001394598.1:p.Pro1423Ala
- NP_001394599.1:p.Pro1422Ala
- NP_001394600.1:p.Pro1422Ala
- NP_001394601.1:p.Pro1422Ala
- NP_001394602.1:p.Pro1422Ala
- NP_001394603.1:p.Pro1422Ala
- NP_001394604.1:p.Pro1422Ala
- NP_001394605.1:p.Pro1422Ala
- NP_001394606.1:p.Pro1422Ala
- NP_001394607.1:p.Pro1422Ala
- NP_001394608.1:p.Pro1422Ala
- NP_001394609.1:p.Pro1422Ala
- NP_001394610.1:p.Pro1421Ala
- NP_001394611.1:p.Pro1421Ala
- NP_001394612.1:p.Pro1421Ala
- NP_001394613.1:p.Pro1464Ala
- NP_001394614.1:p.Pro1421Ala
- NP_001394615.1:p.Pro1421Ala
- NP_001394616.1:p.Pro1421Ala
- NP_001394617.1:p.Pro1421Ala
- NP_001394618.1:p.Pro1421Ala
- NP_001394619.1:p.Pro1420Ala
- NP_001394620.1:p.Pro1420Ala
- NP_001394621.1:p.Pro1417Ala
- NP_001394623.1:p.Pro1417Ala
- NP_001394624.1:p.Pro1417Ala
- NP_001394625.1:p.Pro1417Ala
- NP_001394626.1:p.Pro1417Ala
- NP_001394627.1:p.Pro1417Ala
- NP_001394653.1:p.Pro1417Ala
- NP_001394654.1:p.Pro1417Ala
- NP_001394655.1:p.Pro1417Ala
- NP_001394656.1:p.Pro1417Ala
- NP_001394657.1:p.Pro1417Ala
- NP_001394658.1:p.Pro1417Ala
- NP_001394659.1:p.Pro1417Ala
- NP_001394660.1:p.Pro1417Ala
- NP_001394661.1:p.Pro1416Ala
- NP_001394662.1:p.Pro1416Ala
- NP_001394663.1:p.Pro1416Ala
- NP_001394664.1:p.Pro1416Ala
- NP_001394665.1:p.Pro1416Ala
- NP_001394666.1:p.Pro1416Ala
- NP_001394667.1:p.Pro1416Ala
- NP_001394668.1:p.Pro1416Ala
- NP_001394669.1:p.Pro1416Ala
- NP_001394670.1:p.Pro1416Ala
- NP_001394671.1:p.Pro1416Ala
- NP_001394672.1:p.Pro1416Ala
- NP_001394673.1:p.Pro1416Ala
- NP_001394674.1:p.Pro1416Ala
- NP_001394675.1:p.Pro1416Ala
- NP_001394676.1:p.Pro1416Ala
- NP_001394677.1:p.Pro1416Ala
- NP_001394678.1:p.Pro1416Ala
- NP_001394679.1:p.Pro1416Ala
- NP_001394680.1:p.Pro1416Ala
- NP_001394681.1:p.Pro1416Ala
- NP_001394767.1:p.Pro1415Ala
- NP_001394768.1:p.Pro1415Ala
- NP_001394770.1:p.Pro1415Ala
- NP_001394771.1:p.Pro1415Ala
- NP_001394772.1:p.Pro1415Ala
- NP_001394773.1:p.Pro1415Ala
- NP_001394774.1:p.Pro1415Ala
- NP_001394775.1:p.Pro1415Ala
- NP_001394776.1:p.Pro1415Ala
- NP_001394777.1:p.Pro1415Ala
- NP_001394778.1:p.Pro1415Ala
- NP_001394779.1:p.Pro1415Ala
- NP_001394780.1:p.Pro1415Ala
- NP_001394781.1:p.Pro1415Ala
- NP_001394782.1:p.Pro1415Ala
- NP_001394783.1:p.Pro1464Ala
- NP_001394787.1:p.Pro1463Ala
- NP_001394788.1:p.Pro1463Ala
- NP_001394789.1:p.Pro1463Ala
- NP_001394790.1:p.Pro1462Ala
- NP_001394791.1:p.Pro1397Ala
- NP_001394792.1:p.Pro1422Ala
- NP_001394803.1:p.Pro1395Ala
- NP_001394804.1:p.Pro1395Ala
- NP_001394808.1:p.Pro1394Ala
- NP_001394810.1:p.Pro1394Ala
- NP_001394811.1:p.Pro1394Ala
- NP_001394813.1:p.Pro1394Ala
- NP_001394814.1:p.Pro1394Ala
- NP_001394815.1:p.Pro1394Ala
- NP_001394816.1:p.Pro1394Ala
- NP_001394818.1:p.Pro1394Ala
- NP_001394823.1:p.Pro1393Ala
- NP_001394824.1:p.Pro1393Ala
- NP_001394825.1:p.Pro1393Ala
- NP_001394826.1:p.Pro1393Ala
- NP_001394827.1:p.Pro1393Ala
- NP_001394828.1:p.Pro1393Ala
- NP_001394829.1:p.Pro1393Ala
- NP_001394831.1:p.Pro1393Ala
- NP_001394833.1:p.Pro1393Ala
- NP_001394835.1:p.Pro1393Ala
- NP_001394836.1:p.Pro1393Ala
- NP_001394837.1:p.Pro1393Ala
- NP_001394838.1:p.Pro1393Ala
- NP_001394839.1:p.Pro1393Ala
- NP_001394844.1:p.Pro1392Ala
- NP_001394845.1:p.Pro1392Ala
- NP_001394846.1:p.Pro1392Ala
- NP_001394847.1:p.Pro1392Ala
- NP_001394848.1:p.Pro1423Ala
- NP_001394849.1:p.Pro1376Ala
- NP_001394850.1:p.Pro1376Ala
- NP_001394851.1:p.Pro1376Ala
- NP_001394852.1:p.Pro1376Ala
- NP_001394853.1:p.Pro1376Ala
- NP_001394854.1:p.Pro1376Ala
- NP_001394855.1:p.Pro1376Ala
- NP_001394856.1:p.Pro1375Ala
- NP_001394857.1:p.Pro1375Ala
- NP_001394858.1:p.Pro1375Ala
- NP_001394859.1:p.Pro1375Ala
- NP_001394860.1:p.Pro1375Ala
- NP_001394861.1:p.Pro1375Ala
- NP_001394862.1:p.Pro1375Ala
- NP_001394863.1:p.Pro1374Ala
- NP_001394864.1:p.Pro1374Ala
- NP_001394865.1:p.Pro1374Ala
- NP_001394866.1:p.Pro1423Ala
- NP_001394867.1:p.Pro1423Ala
- NP_001394868.1:p.Pro1422Ala
- NP_001394869.1:p.Pro1422Ala
- NP_001394870.1:p.Pro1421Ala
- NP_001394871.1:p.Pro1417Ala
- NP_001394872.1:p.Pro1416Ala
- NP_001394873.1:p.Pro1416Ala
- NP_001394874.1:p.Pro1416Ala
- NP_001394875.1:p.Pro1353Ala
- NP_001394876.1:p.Pro1353Ala
- NP_001394877.1:p.Pro1353Ala
- NP_001394878.1:p.Pro1353Ala
- NP_001394879.1:p.Pro1352Ala
- NP_001394880.1:p.Pro1352Ala
- NP_001394881.1:p.Pro1352Ala
- NP_001394882.1:p.Pro1352Ala
- NP_001394883.1:p.Pro1352Ala
- NP_001394884.1:p.Pro1352Ala
- NP_001394885.1:p.Pro1351Ala
- NP_001394886.1:p.Pro1351Ala
- NP_001394887.1:p.Pro1351Ala
- NP_001394888.1:p.Pro1337Ala
- NP_001394889.1:p.Pro1336Ala
- NP_001394891.1:p.Pro1336Ala
- NP_001394892.1:p.Pro1335Ala
- NP_001394894.1:p.Pro1295Ala
- NP_001394895.1:p.Pro1168Ala
- NP_001394896.1:p.Pro1167Ala
- NP_001394897.1:p.Pro596Ala
- NP_001394898.1:p.Pro595Ala
- NP_001394899.1:p.Pro383Ala
- NP_001394900.1:p.Pro383Ala
- NP_001394901.1:p.Pro382Ala
- NP_001394902.1:p.Pro361Ala
- NP_001394903.1:p.Pro361Ala
- NP_001394904.1:p.Pro361Ala
- NP_001394905.1:p.Pro361Ala
- NP_001394906.1:p.Pro361Ala
- NP_001394907.1:p.Pro361Ala
- NP_001394908.1:p.Pro360Ala
- NP_001394909.1:p.Pro360Ala
- NP_001394910.1:p.Pro360Ala
- NP_001394911.1:p.Pro360Ala
- NP_001394912.1:p.Pro360Ala
- NP_001394913.1:p.Pro360Ala
- NP_001394914.1:p.Pro360Ala
- NP_001394915.1:p.Pro360Ala
- NP_001394919.1:p.Pro360Ala
- NP_001394920.1:p.Pro360Ala
- NP_001394921.1:p.Pro360Ala
- NP_001394922.1:p.Pro360Ala
- NP_001395321.1:p.Pro359Ala
- NP_001395325.1:p.Pro359Ala
- NP_001395326.1:p.Pro359Ala
- NP_001395327.1:p.Pro359Ala
- NP_001395328.1:p.Pro359Ala
- NP_001395329.1:p.Pro359Ala
- NP_001395330.1:p.Pro359Ala
- NP_001395331.1:p.Pro359Ala
- NP_001395332.1:p.Pro359Ala
- NP_001395333.1:p.Pro359Ala
- NP_001395335.1:p.Pro358Ala
- NP_001395336.1:p.Pro358Ala
- NP_001395337.1:p.Pro358Ala
- NP_001395338.1:p.Pro357Ala
- NP_001395339.1:p.Pro336Ala
- NP_001395340.1:p.Pro335Ala
- NP_001395341.1:p.Pro334Ala
- NP_001395342.1:p.Pro334Ala
- NP_001395343.1:p.Pro334Ala
- NP_001395344.1:p.Pro334Ala
- NP_001395345.1:p.Pro334Ala
- NP_001395347.1:p.Pro322Ala
- NP_001395348.1:p.Pro322Ala
- NP_001395349.1:p.Pro322Ala
- NP_001395350.1:p.Pro321Ala
- NP_001395351.1:p.Pro321Ala
- NP_001395352.1:p.Pro321Ala
- NP_001395353.1:p.Pro321Ala
- NP_001395354.1:p.Pro320Ala
- NP_001395355.1:p.Pro320Ala
- NP_001395356.1:p.Pro320Ala
- NP_001395357.1:p.Pro320Ala
- NP_001395358.1:p.Pro320Ala
- NP_001395359.1:p.Pro320Ala
- NP_001395360.1:p.Pro320Ala
- NP_001395361.1:p.Pro319Ala
- NP_001395362.1:p.Pro319Ala
- NP_001395363.1:p.Pro319Ala
- NP_001395364.1:p.Pro319Ala
- NP_001395365.1:p.Pro319Ala
- NP_001395366.1:p.Pro319Ala
- NP_001395367.1:p.Pro319Ala
- NP_001395368.1:p.Pro319Ala
- NP_001395369.1:p.Pro319Ala
- NP_001395370.1:p.Pro319Ala
- NP_001395371.1:p.Pro319Ala
- NP_001395372.1:p.Pro319Ala
- NP_001395373.1:p.Pro319Ala
- NP_001395374.1:p.Pro318Ala
- NP_001395375.1:p.Pro318Ala
- NP_001395376.1:p.Pro318Ala
- NP_001395377.1:p.Pro318Ala
- NP_001395379.1:p.Pro318Ala
- NP_001395380.1:p.Pro316Ala
- NP_001395381.1:p.Pro314Ala
- NP_001395382.1:p.Pro314Ala
- NP_001395383.1:p.Pro314Ala
- NP_001395384.1:p.Pro314Ala
- NP_001395385.1:p.Pro314Ala
- NP_001395386.1:p.Pro314Ala
- NP_001395387.1:p.Pro313Ala
- NP_001395388.1:p.Pro313Ala
- NP_001395389.1:p.Pro313Ala
- NP_001395390.1:p.Pro313Ala
- NP_001395391.1:p.Pro313Ala
- NP_001395392.1:p.Pro313Ala
- NP_001395393.1:p.Pro313Ala
- NP_001395394.1:p.Pro313Ala
- NP_001395395.1:p.Pro313Ala
- NP_001395396.1:p.Pro313Ala
- NP_001395397.1:p.Pro312Ala
- NP_001395398.1:p.Pro312Ala
- NP_001395399.1:p.Pro312Ala
- NP_001395401.1:p.Pro360Ala
- NP_001395402.1:p.Pro359Ala
- NP_001395403.1:p.Pro294Ala
- NP_001395404.1:p.Pro293Ala
- NP_001395405.1:p.Pro293Ala
- NP_001395407.1:p.Pro291Ala
- NP_001395408.1:p.Pro291Ala
- NP_001395409.1:p.Pro291Ala
- NP_001395410.1:p.Pro290Ala
- NP_001395411.1:p.Pro290Ala
- NP_001395412.1:p.Pro290Ala
- NP_001395413.1:p.Pro290Ala
- NP_001395414.1:p.Pro290Ala
- NP_001395418.1:p.Pro290Ala
- NP_001395419.1:p.Pro290Ala
- NP_001395420.1:p.Pro290Ala
- NP_001395421.1:p.Pro289Ala
- NP_001395422.1:p.Pro289Ala
- NP_001395423.1:p.Pro281Ala
- NP_001395424.1:p.Pro279Ala
- NP_001395425.1:p.Pro273Ala
- NP_001395426.1:p.Pro273Ala
- NP_001395427.1:p.Pro273Ala
- NP_001395428.1:p.Pro273Ala
- NP_001395429.1:p.Pro273Ala
- NP_001395430.1:p.Pro273Ala
- NP_001395431.1:p.Pro272Ala
- NP_001395432.1:p.Pro272Ala
- NP_001395433.1:p.Pro272Ala
- NP_001395434.1:p.Pro271Ala
- NP_001395435.1:p.Pro252Ala
- NP_001395436.1:p.Pro251Ala
- NP_001395437.1:p.Pro248Ala
- NP_001395438.1:p.Pro247Ala
- NP_001395439.1:p.Pro234Ala
- NP_001395440.1:p.Pro233Ala
- NP_001395441.1:p.Pro193Ala
- NP_009225.1:p.Pro1464Ala
- NP_009225.1:p.Pro1464Ala
- NP_009228.2:p.Pro1417Ala
- NP_009229.2:p.Pro360Ala
- NP_009229.2:p.Pro360Ala
- NP_009230.2:p.Pro360Ala
- NP_009231.2:p.Pro1485Ala
- NP_009235.2:p.Pro360Ala
- LRG_292t1:c.4390C>G
- LRG_292:g.141402C>G
- LRG_292p1:p.Pro1464Ala
- NC_000017.10:g.41228599G>C
- NM_007294.3:c.4390C>G
- NM_007298.3:c.1078C>G
- NR_027676.2:n.4567C>G
This HGVS expression did not pass validation- Protein change:
- P1167A
- Links:
- dbSNP: rs1259139517
- NCBI 1000 Genomes Browser:
- rs1259139517
- Molecular consequence:
- NM_001407571.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.4456C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.4456C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.4453C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.4453C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.4453C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.4450C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.4450C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.4390C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.4390C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.4390C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.4390C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.4390C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.4390C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.4390C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.4390C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.4381C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.4381C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.4378C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.4375C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.4333C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.4330C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.4390C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.4312C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.4312C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.4312C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.4309C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.4309C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.4309C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.4306C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.4306C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.4306C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.4306C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.4306C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.4267C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.4267C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.4267C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.4267C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.4267C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.4267C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.4261C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.4261C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.4261C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.4390C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.4261C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.4261C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.4261C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.4261C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.4261C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.4258C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.4258C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.4243C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.4390C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.4387C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.4384C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.4189C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.4183C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.4183C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.4180C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.4180C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.4180C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.4180C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.4180C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.4180C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.4180C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.4180C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.4177C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.4174C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.4174C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.4174C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.4174C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.4267C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.4126C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.4126C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.4126C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.4126C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.4126C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.4126C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.4126C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.4123C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.4123C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.4123C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.4123C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.4123C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.4123C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.4123C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4120C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4120C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4120C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.4267C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.4267C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.4264C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.4261C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.4246C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4057C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4057C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4057C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4057C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4054C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4054C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4054C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4054C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4054C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4054C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4051C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4051C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4051C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4009C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4006C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4006C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4003C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.3883C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.3502C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.3499C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.1786C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.1783C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.1147C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.1147C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.1144C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1072C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1072C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1072C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1069C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1006C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1003C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1000C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1000C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1000C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1000C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1000C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.964C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.964C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.964C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.961C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.961C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.961C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.961C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.958C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.958C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.958C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.958C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.958C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.958C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.958C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.955C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.952C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.952C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.952C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.952C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.952C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.946C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.940C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.940C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.940C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.940C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.940C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.940C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.937C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.937C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.937C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.937C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.937C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.937C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.937C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.937C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.937C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.937C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.934C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.934C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.934C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.880C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.877C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.877C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.871C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.871C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.871C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.868C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.868C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.868C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.868C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.868C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.868C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.868C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.868C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.865C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.865C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.841C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.835C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.817C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.817C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.817C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.817C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.817C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.817C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.814C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.814C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.814C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.811C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.754C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.751C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.742C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.739C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.700C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.697C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.577C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.4390C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.4249C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.4453C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.4567C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
-
glycoside hydrolase family 108 protein [Klebsiella aerogenes]
glycoside hydrolase family 108 protein [Klebsiella aerogenes]gi|1879716971|gnl|PRJNA605147|HV316 0|gb|QLS46898.1|Protein
-
nuclear factor of activated T-cells, cytoplasmic 4 isoform 2 [Homo sapiens]
nuclear factor of activated T-cells, cytoplasmic 4 isoform 2 [Homo sapiens]gi|27886563|ref|NP_004545.2|Protein
-
malQ [Shigella boydii]
malQ [Shigella boydii]Gene ID:58390682Gene
-
malQ [Ralstonia pseudosolanacearum]
malQ [Ralstonia pseudosolanacearum]Gene ID:60503173Gene
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV002633061 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Mar 22, 2023) | germline | clinical testing | |
SCV004360180 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Jan 31, 2022) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From Ambry Genetics, SCV002633061.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.P1464A variant (also known as c.4390C>G), located in coding exon 12 of the BRCA1 gene, results from a C to G substitution at nucleotide position 4390. The proline at codon 1464 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
# | 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 Color Diagnostics, LLC DBA Color Health, SCV004360180.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This missense variant replaces proline with alanine at codon 1464 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251124 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
# | 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: Sep 29, 2024