NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Nov 16, 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:
- RCV000774923.16
Allele description [Variation Report for NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu)]
NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu)
- 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.5585A>T (p.His1862Leu)
- HGVS:
- NC_000017.11:g.43045685T>A
- NG_005905.2:g.172299A>T
- NM_001407571.1:c.5372A>T
- NM_001407581.1:c.5651A>T
- NM_001407582.1:c.5651A>T
- NM_001407583.1:c.5648A>T
- NM_001407585.1:c.5648A>T
- NM_001407587.1:c.5648A>T
- NM_001407590.1:c.5645A>T
- NM_001407591.1:c.5645A>T
- NM_001407593.1:c.5585A>T
- NM_001407594.1:c.5585A>T
- NM_001407596.1:c.5585A>T
- NM_001407597.1:c.5585A>T
- NM_001407598.1:c.5585A>T
- NM_001407602.1:c.5585A>T
- NM_001407603.1:c.5585A>T
- NM_001407605.1:c.5585A>T
- NM_001407610.1:c.5582A>T
- NM_001407611.1:c.5582A>T
- NM_001407612.1:c.5582A>T
- NM_001407613.1:c.5582A>T
- NM_001407614.1:c.5582A>T
- NM_001407615.1:c.5582A>T
- NM_001407616.1:c.5582A>T
- NM_001407617.1:c.5582A>T
- NM_001407618.1:c.5582A>T
- NM_001407619.1:c.5582A>T
- NM_001407620.1:c.5582A>T
- NM_001407621.1:c.5582A>T
- NM_001407622.1:c.5582A>T
- NM_001407623.1:c.5582A>T
- NM_001407624.1:c.5582A>T
- NM_001407625.1:c.5582A>T
- NM_001407626.1:c.5582A>T
- NM_001407627.1:c.5579A>T
- NM_001407628.1:c.5579A>T
- NM_001407629.1:c.5579A>T
- NM_001407630.1:c.5579A>T
- NM_001407631.1:c.5579A>T
- NM_001407632.1:c.5579A>T
- NM_001407633.1:c.5579A>T
- NM_001407634.1:c.5579A>T
- NM_001407635.1:c.5579A>T
- NM_001407636.1:c.5579A>T
- NM_001407637.1:c.5579A>T
- NM_001407638.1:c.5579A>T
- NM_001407639.1:c.5579A>T
- NM_001407640.1:c.5579A>T
- NM_001407641.1:c.5579A>T
- NM_001407642.1:c.5579A>T
- NM_001407644.1:c.5576A>T
- NM_001407645.1:c.5576A>T
- NM_001407646.1:c.5573A>T
- NM_001407647.1:c.5570A>T
- NM_001407648.1:c.5528A>T
- NM_001407649.1:c.5525A>T
- NM_001407652.1:c.5507A>T
- NM_001407653.1:c.5507A>T
- NM_001407654.1:c.5507A>T
- NM_001407655.1:c.5507A>T
- NM_001407656.1:c.5504A>T
- NM_001407657.1:c.5504A>T
- NM_001407658.1:c.5504A>T
- NM_001407659.1:c.5501A>T
- NM_001407660.1:c.5501A>T
- NM_001407661.1:c.5501A>T
- NM_001407662.1:c.5501A>T
- NM_001407663.1:c.5501A>T
- NM_001407664.1:c.5462A>T
- NM_001407665.1:c.5462A>T
- NM_001407666.1:c.5462A>T
- NM_001407667.1:c.5462A>T
- NM_001407668.1:c.5462A>T
- NM_001407669.1:c.5462A>T
- NM_001407670.1:c.5459A>T
- NM_001407671.1:c.5459A>T
- NM_001407672.1:c.5459A>T
- NM_001407673.1:c.5459A>T
- NM_001407674.1:c.5459A>T
- NM_001407675.1:c.5459A>T
- NM_001407676.1:c.5459A>T
- NM_001407677.1:c.5459A>T
- NM_001407678.1:c.5459A>T
- NM_001407679.1:c.5459A>T
- NM_001407680.1:c.5459A>T
- NM_001407681.1:c.5456A>T
- NM_001407682.1:c.5456A>T
- NM_001407683.1:c.5456A>T
- NM_001407684.1:c.5456A>T
- NM_001407685.1:c.5456A>T
- NM_001407686.1:c.5456A>T
- NM_001407687.1:c.5456A>T
- NM_001407688.1:c.5456A>T
- NM_001407689.1:c.5456A>T
- NM_001407690.1:c.5453A>T
- NM_001407691.1:c.5453A>T
- NM_001407692.1:c.5444A>T
- NM_001407694.1:c.5444A>T
- NM_001407695.1:c.5444A>T
- NM_001407696.1:c.5444A>T
- NM_001407697.1:c.5444A>T
- NM_001407698.1:c.5444A>T
- NM_001407724.1:c.5444A>T
- NM_001407725.1:c.5444A>T
- NM_001407726.1:c.5444A>T
- NM_001407727.1:c.5444A>T
- NM_001407728.1:c.5444A>T
- NM_001407729.1:c.5444A>T
- NM_001407730.1:c.5444A>T
- NM_001407731.1:c.5444A>T
- NM_001407732.1:c.5441A>T
- NM_001407733.1:c.5441A>T
- NM_001407734.1:c.5441A>T
- NM_001407735.1:c.5441A>T
- NM_001407736.1:c.5441A>T
- NM_001407737.1:c.5441A>T
- NM_001407738.1:c.5441A>T
- NM_001407739.1:c.5441A>T
- NM_001407740.1:c.5441A>T
- NM_001407741.1:c.5441A>T
- NM_001407742.1:c.5441A>T
- NM_001407743.1:c.5441A>T
- NM_001407744.1:c.5441A>T
- NM_001407745.1:c.5441A>T
- NM_001407746.1:c.5441A>T
- NM_001407747.1:c.5441A>T
- NM_001407748.1:c.5441A>T
- NM_001407749.1:c.5441A>T
- NM_001407750.1:c.5441A>T
- NM_001407751.1:c.5441A>T
- NM_001407752.1:c.5441A>T
- NM_001407838.1:c.5438A>T
- NM_001407839.1:c.5438A>T
- NM_001407841.1:c.5438A>T
- NM_001407842.1:c.5438A>T
- NM_001407843.1:c.5438A>T
- NM_001407844.1:c.5438A>T
- NM_001407845.1:c.5438A>T
- NM_001407846.1:c.5438A>T
- NM_001407847.1:c.5438A>T
- NM_001407848.1:c.5438A>T
- NM_001407849.1:c.5438A>T
- NM_001407850.1:c.5438A>T
- NM_001407851.1:c.5438A>T
- NM_001407852.1:c.5438A>T
- NM_001407853.1:c.5438A>T
- NM_001407854.1:c.*99A>T
- NM_001407858.1:c.*99A>T
- NM_001407859.1:c.*99A>T
- NM_001407860.1:c.*99A>T
- NM_001407861.1:c.*99A>T
- NM_001407862.1:c.5384A>T
- NM_001407863.1:c.5381A>T
- NM_001407874.1:c.5378A>T
- NM_001407875.1:c.5378A>T
- NM_001407879.1:c.5375A>T
- NM_001407881.1:c.5375A>T
- NM_001407882.1:c.5375A>T
- NM_001407884.1:c.5375A>T
- NM_001407885.1:c.5375A>T
- NM_001407886.1:c.5375A>T
- NM_001407887.1:c.5375A>T
- NM_001407889.1:c.5375A>T
- NM_001407894.1:c.5372A>T
- NM_001407895.1:c.5372A>T
- NM_001407896.1:c.5372A>T
- NM_001407897.1:c.5372A>T
- NM_001407898.1:c.5372A>T
- NM_001407899.1:c.5372A>T
- NM_001407900.1:c.5372A>T
- NM_001407902.1:c.5372A>T
- NM_001407904.1:c.5372A>T
- NM_001407906.1:c.5372A>T
- NM_001407907.1:c.5372A>T
- NM_001407908.1:c.5372A>T
- NM_001407909.1:c.5372A>T
- NM_001407910.1:c.5372A>T
- NM_001407915.1:c.5369A>T
- NM_001407916.1:c.5369A>T
- NM_001407917.1:c.5369A>T
- NM_001407918.1:c.5369A>T
- NM_001407919.1:c.5333A>T
- NM_001407920.1:c.5321A>T
- NM_001407921.1:c.5321A>T
- NM_001407922.1:c.5321A>T
- NM_001407923.1:c.5321A>T
- NM_001407924.1:c.5321A>T
- NM_001407925.1:c.5321A>T
- NM_001407926.1:c.5321A>T
- NM_001407927.1:c.5318A>T
- NM_001407928.1:c.5318A>T
- NM_001407929.1:c.5318A>T
- NM_001407930.1:c.5318A>T
- NM_001407931.1:c.5318A>T
- NM_001407932.1:c.5318A>T
- NM_001407933.1:c.5318A>T
- NM_001407934.1:c.5315A>T
- NM_001407935.1:c.5315A>T
- NM_001407936.1:c.5315A>T
- NM_001407937.1:c.*99A>T
- NM_001407938.1:c.*99A>T
- NM_001407939.1:c.*99A>T
- NM_001407940.1:c.*99A>T
- NM_001407941.1:c.*99A>T
- NM_001407942.1:c.*99A>T
- NM_001407943.1:c.*99A>T
- NM_001407944.1:c.*99A>T
- NM_001407945.1:c.*99A>T
- NM_001407946.1:c.5252A>T
- NM_001407947.1:c.5252A>T
- NM_001407948.1:c.5252A>T
- NM_001407949.1:c.5252A>T
- NM_001407950.1:c.5249A>T
- NM_001407951.1:c.5249A>T
- NM_001407952.1:c.5249A>T
- NM_001407953.1:c.5249A>T
- NM_001407954.1:c.5249A>T
- NM_001407955.1:c.5249A>T
- NM_001407956.1:c.5246A>T
- NM_001407957.1:c.5246A>T
- NM_001407958.1:c.5246A>T
- NM_001407959.1:c.5204A>T
- NM_001407960.1:c.5201A>T
- NM_001407962.1:c.5201A>T
- NM_001407963.1:c.5198A>T
- NM_001407964.1:c.5123A>T
- NM_001407965.1:c.5078A>T
- NM_001407966.1:c.4697A>T
- NM_001407967.1:c.4694A>T
- NM_001407968.1:c.2981A>T
- NM_001407969.1:c.2978A>T
- NM_001407970.1:c.2342A>T
- NM_001407971.1:c.2342A>T
- NM_001407972.1:c.2339A>T
- NM_001407973.1:c.2276A>T
- NM_001407974.1:c.2276A>T
- NM_001407975.1:c.2276A>T
- NM_001407976.1:c.2276A>T
- NM_001407977.1:c.2276A>T
- NM_001407978.1:c.2276A>T
- NM_001407979.1:c.2273A>T
- NM_001407980.1:c.2273A>T
- NM_001407981.1:c.2273A>T
- NM_001407982.1:c.2273A>T
- NM_001407983.1:c.2273A>T
- NM_001407984.1:c.2273A>T
- NM_001407985.1:c.2273A>T
- NM_001407986.1:c.2273A>T
- NM_001407990.1:c.2273A>T
- NM_001407991.1:c.2273A>T
- NM_001407992.1:c.2273A>T
- NM_001407993.1:c.2273A>T
- NM_001408392.1:c.2270A>T
- NM_001408396.1:c.2270A>T
- NM_001408397.1:c.2270A>T
- NM_001408398.1:c.2270A>T
- NM_001408399.1:c.2270A>T
- NM_001408400.1:c.2270A>T
- NM_001408401.1:c.2270A>T
- NM_001408402.1:c.2270A>T
- NM_001408403.1:c.2270A>T
- NM_001408404.1:c.2270A>T
- NM_001408406.1:c.2267A>T
- NM_001408407.1:c.2267A>T
- NM_001408408.1:c.2267A>T
- NM_001408409.1:c.2264A>T
- NM_001408410.1:c.2201A>T
- NM_001408411.1:c.2198A>T
- NM_001408412.1:c.2195A>T
- NM_001408413.1:c.2195A>T
- NM_001408414.1:c.2195A>T
- NM_001408415.1:c.2195A>T
- NM_001408416.1:c.2195A>T
- NM_001408418.1:c.2159A>T
- NM_001408419.1:c.2159A>T
- NM_001408420.1:c.2159A>T
- NM_001408421.1:c.2156A>T
- NM_001408422.1:c.2156A>T
- NM_001408423.1:c.2156A>T
- NM_001408424.1:c.2156A>T
- NM_001408425.1:c.2153A>T
- NM_001408426.1:c.2153A>T
- NM_001408427.1:c.2153A>T
- NM_001408428.1:c.2153A>T
- NM_001408429.1:c.2153A>T
- NM_001408430.1:c.2153A>T
- NM_001408431.1:c.2153A>T
- NM_001408432.1:c.2150A>T
- NM_001408433.1:c.2150A>T
- NM_001408434.1:c.2150A>T
- NM_001408435.1:c.2150A>T
- NM_001408436.1:c.2150A>T
- NM_001408437.1:c.2150A>T
- NM_001408438.1:c.2150A>T
- NM_001408439.1:c.2150A>T
- NM_001408440.1:c.2150A>T
- NM_001408441.1:c.2150A>T
- NM_001408442.1:c.2150A>T
- NM_001408443.1:c.2150A>T
- NM_001408444.1:c.2150A>T
- NM_001408445.1:c.2147A>T
- NM_001408446.1:c.2147A>T
- NM_001408447.1:c.2147A>T
- NM_001408448.1:c.2147A>T
- NM_001408450.1:c.2147A>T
- NM_001408451.1:c.2141A>T
- NM_001408452.1:c.2135A>T
- NM_001408453.1:c.2135A>T
- NM_001408454.1:c.2135A>T
- NM_001408455.1:c.2135A>T
- NM_001408456.1:c.2135A>T
- NM_001408457.1:c.2135A>T
- NM_001408458.1:c.2132A>T
- NM_001408459.1:c.2132A>T
- NM_001408460.1:c.2132A>T
- NM_001408461.1:c.2132A>T
- NM_001408462.1:c.2132A>T
- NM_001408463.1:c.2132A>T
- NM_001408464.1:c.2132A>T
- NM_001408465.1:c.2132A>T
- NM_001408466.1:c.2132A>T
- NM_001408467.1:c.2132A>T
- NM_001408468.1:c.2129A>T
- NM_001408469.1:c.2129A>T
- NM_001408470.1:c.2129A>T
- NM_001408472.1:c.*99A>T
- NM_001408473.1:c.*99A>T
- NM_001408474.1:c.2075A>T
- NM_001408475.1:c.2072A>T
- NM_001408476.1:c.2072A>T
- NM_001408478.1:c.2066A>T
- NM_001408479.1:c.2066A>T
- NM_001408480.1:c.2066A>T
- NM_001408481.1:c.2063A>T
- NM_001408482.1:c.2063A>T
- NM_001408483.1:c.2063A>T
- NM_001408484.1:c.2063A>T
- NM_001408485.1:c.2063A>T
- NM_001408489.1:c.2063A>T
- NM_001408490.1:c.2063A>T
- NM_001408491.1:c.2063A>T
- NM_001408492.1:c.2060A>T
- NM_001408493.1:c.2060A>T
- NM_001408494.1:c.2036A>T
- NM_001408495.1:c.2030A>T
- NM_001408496.1:c.2012A>T
- NM_001408497.1:c.2012A>T
- NM_001408498.1:c.2012A>T
- NM_001408499.1:c.2012A>T
- NM_001408500.1:c.2012A>T
- NM_001408501.1:c.2012A>T
- NM_001408502.1:c.2009A>T
- NM_001408503.1:c.2009A>T
- NM_001408504.1:c.2009A>T
- NM_001408505.1:c.2006A>T
- NM_001408506.1:c.1949A>T
- NM_001408507.1:c.1946A>T
- NM_001408508.1:c.1937A>T
- NM_001408509.1:c.1934A>T
- NM_001408510.1:c.1895A>T
- NM_001408511.1:c.1892A>T
- NM_001408512.1:c.1772A>T
- NM_001408513.1:c.1745A>T
- NM_001408514.1:c.1349A>T
- NM_007294.4:c.5585A>TMANE SELECT
- NM_007297.4:c.5444A>T
- NM_007298.4:c.2273A>T
- NM_007299.4:c.*99A>T
- NM_007300.4:c.5648A>T
- NM_007304.2:c.2273A>T
- NP_001394500.1:p.His1791Leu
- NP_001394510.1:p.His1884Leu
- NP_001394511.1:p.His1884Leu
- NP_001394512.1:p.His1883Leu
- NP_001394514.1:p.His1883Leu
- NP_001394516.1:p.His1883Leu
- NP_001394519.1:p.His1882Leu
- NP_001394520.1:p.His1882Leu
- NP_001394522.1:p.His1862Leu
- NP_001394523.1:p.His1862Leu
- NP_001394525.1:p.His1862Leu
- NP_001394526.1:p.His1862Leu
- NP_001394527.1:p.His1862Leu
- NP_001394531.1:p.His1862Leu
- NP_001394532.1:p.His1862Leu
- NP_001394534.1:p.His1862Leu
- NP_001394539.1:p.His1861Leu
- NP_001394540.1:p.His1861Leu
- NP_001394541.1:p.His1861Leu
- NP_001394542.1:p.His1861Leu
- NP_001394543.1:p.His1861Leu
- NP_001394544.1:p.His1861Leu
- NP_001394545.1:p.His1861Leu
- NP_001394546.1:p.His1861Leu
- NP_001394547.1:p.His1861Leu
- NP_001394548.1:p.His1861Leu
- NP_001394549.1:p.His1861Leu
- NP_001394550.1:p.His1861Leu
- NP_001394551.1:p.His1861Leu
- NP_001394552.1:p.His1861Leu
- NP_001394553.1:p.His1861Leu
- NP_001394554.1:p.His1861Leu
- NP_001394555.1:p.His1861Leu
- NP_001394556.1:p.His1860Leu
- NP_001394557.1:p.His1860Leu
- NP_001394558.1:p.His1860Leu
- NP_001394559.1:p.His1860Leu
- NP_001394560.1:p.His1860Leu
- NP_001394561.1:p.His1860Leu
- NP_001394562.1:p.His1860Leu
- NP_001394563.1:p.His1860Leu
- NP_001394564.1:p.His1860Leu
- NP_001394565.1:p.His1860Leu
- NP_001394566.1:p.His1860Leu
- NP_001394567.1:p.His1860Leu
- NP_001394568.1:p.His1860Leu
- NP_001394569.1:p.His1860Leu
- NP_001394570.1:p.His1860Leu
- NP_001394571.1:p.His1860Leu
- NP_001394573.1:p.His1859Leu
- NP_001394574.1:p.His1859Leu
- NP_001394575.1:p.His1858Leu
- NP_001394576.1:p.His1857Leu
- NP_001394577.1:p.His1843Leu
- NP_001394578.1:p.His1842Leu
- NP_001394581.1:p.His1836Leu
- NP_001394582.1:p.His1836Leu
- NP_001394583.1:p.His1836Leu
- NP_001394584.1:p.His1836Leu
- NP_001394585.1:p.His1835Leu
- NP_001394586.1:p.His1835Leu
- NP_001394587.1:p.His1835Leu
- NP_001394588.1:p.His1834Leu
- NP_001394589.1:p.His1834Leu
- NP_001394590.1:p.His1834Leu
- NP_001394591.1:p.His1834Leu
- NP_001394592.1:p.His1834Leu
- NP_001394593.1:p.His1821Leu
- NP_001394594.1:p.His1821Leu
- NP_001394595.1:p.His1821Leu
- NP_001394596.1:p.His1821Leu
- NP_001394597.1:p.His1821Leu
- NP_001394598.1:p.His1821Leu
- NP_001394599.1:p.His1820Leu
- NP_001394600.1:p.His1820Leu
- NP_001394601.1:p.His1820Leu
- NP_001394602.1:p.His1820Leu
- NP_001394603.1:p.His1820Leu
- NP_001394604.1:p.His1820Leu
- NP_001394605.1:p.His1820Leu
- NP_001394606.1:p.His1820Leu
- NP_001394607.1:p.His1820Leu
- NP_001394608.1:p.His1820Leu
- NP_001394609.1:p.His1820Leu
- NP_001394610.1:p.His1819Leu
- NP_001394611.1:p.His1819Leu
- NP_001394612.1:p.His1819Leu
- NP_001394613.1:p.His1819Leu
- NP_001394614.1:p.His1819Leu
- NP_001394615.1:p.His1819Leu
- NP_001394616.1:p.His1819Leu
- NP_001394617.1:p.His1819Leu
- NP_001394618.1:p.His1819Leu
- NP_001394619.1:p.His1818Leu
- NP_001394620.1:p.His1818Leu
- NP_001394621.1:p.His1815Leu
- NP_001394623.1:p.His1815Leu
- NP_001394624.1:p.His1815Leu
- NP_001394625.1:p.His1815Leu
- NP_001394626.1:p.His1815Leu
- NP_001394627.1:p.His1815Leu
- NP_001394653.1:p.His1815Leu
- NP_001394654.1:p.His1815Leu
- NP_001394655.1:p.His1815Leu
- NP_001394656.1:p.His1815Leu
- NP_001394657.1:p.His1815Leu
- NP_001394658.1:p.His1815Leu
- NP_001394659.1:p.His1815Leu
- NP_001394660.1:p.His1815Leu
- NP_001394661.1:p.His1814Leu
- NP_001394662.1:p.His1814Leu
- NP_001394663.1:p.His1814Leu
- NP_001394664.1:p.His1814Leu
- NP_001394665.1:p.His1814Leu
- NP_001394666.1:p.His1814Leu
- NP_001394667.1:p.His1814Leu
- NP_001394668.1:p.His1814Leu
- NP_001394669.1:p.His1814Leu
- NP_001394670.1:p.His1814Leu
- NP_001394671.1:p.His1814Leu
- NP_001394672.1:p.His1814Leu
- NP_001394673.1:p.His1814Leu
- NP_001394674.1:p.His1814Leu
- NP_001394675.1:p.His1814Leu
- NP_001394676.1:p.His1814Leu
- NP_001394677.1:p.His1814Leu
- NP_001394678.1:p.His1814Leu
- NP_001394679.1:p.His1814Leu
- NP_001394680.1:p.His1814Leu
- NP_001394681.1:p.His1814Leu
- NP_001394767.1:p.His1813Leu
- NP_001394768.1:p.His1813Leu
- NP_001394770.1:p.His1813Leu
- NP_001394771.1:p.His1813Leu
- NP_001394772.1:p.His1813Leu
- NP_001394773.1:p.His1813Leu
- NP_001394774.1:p.His1813Leu
- NP_001394775.1:p.His1813Leu
- NP_001394776.1:p.His1813Leu
- NP_001394777.1:p.His1813Leu
- NP_001394778.1:p.His1813Leu
- NP_001394779.1:p.His1813Leu
- NP_001394780.1:p.His1813Leu
- NP_001394781.1:p.His1813Leu
- NP_001394782.1:p.His1813Leu
- NP_001394791.1:p.His1795Leu
- NP_001394792.1:p.His1794Leu
- NP_001394803.1:p.His1793Leu
- NP_001394804.1:p.His1793Leu
- NP_001394808.1:p.His1792Leu
- NP_001394810.1:p.His1792Leu
- NP_001394811.1:p.His1792Leu
- NP_001394813.1:p.His1792Leu
- NP_001394814.1:p.His1792Leu
- NP_001394815.1:p.His1792Leu
- NP_001394816.1:p.His1792Leu
- NP_001394818.1:p.His1792Leu
- NP_001394823.1:p.His1791Leu
- NP_001394824.1:p.His1791Leu
- NP_001394825.1:p.His1791Leu
- NP_001394826.1:p.His1791Leu
- NP_001394827.1:p.His1791Leu
- NP_001394828.1:p.His1791Leu
- NP_001394829.1:p.His1791Leu
- NP_001394831.1:p.His1791Leu
- NP_001394833.1:p.His1791Leu
- NP_001394835.1:p.His1791Leu
- NP_001394836.1:p.His1791Leu
- NP_001394837.1:p.His1791Leu
- NP_001394838.1:p.His1791Leu
- NP_001394839.1:p.His1791Leu
- NP_001394844.1:p.His1790Leu
- NP_001394845.1:p.His1790Leu
- NP_001394846.1:p.His1790Leu
- NP_001394847.1:p.His1790Leu
- NP_001394848.1:p.His1778Leu
- NP_001394849.1:p.His1774Leu
- NP_001394850.1:p.His1774Leu
- NP_001394851.1:p.His1774Leu
- NP_001394852.1:p.His1774Leu
- NP_001394853.1:p.His1774Leu
- NP_001394854.1:p.His1774Leu
- NP_001394855.1:p.His1774Leu
- NP_001394856.1:p.His1773Leu
- NP_001394857.1:p.His1773Leu
- NP_001394858.1:p.His1773Leu
- NP_001394859.1:p.His1773Leu
- NP_001394860.1:p.His1773Leu
- NP_001394861.1:p.His1773Leu
- NP_001394862.1:p.His1773Leu
- NP_001394863.1:p.His1772Leu
- NP_001394864.1:p.His1772Leu
- NP_001394865.1:p.His1772Leu
- NP_001394875.1:p.His1751Leu
- NP_001394876.1:p.His1751Leu
- NP_001394877.1:p.His1751Leu
- NP_001394878.1:p.His1751Leu
- NP_001394879.1:p.His1750Leu
- NP_001394880.1:p.His1750Leu
- NP_001394881.1:p.His1750Leu
- NP_001394882.1:p.His1750Leu
- NP_001394883.1:p.His1750Leu
- NP_001394884.1:p.His1750Leu
- NP_001394885.1:p.His1749Leu
- NP_001394886.1:p.His1749Leu
- NP_001394887.1:p.His1749Leu
- NP_001394888.1:p.His1735Leu
- NP_001394889.1:p.His1734Leu
- NP_001394891.1:p.His1734Leu
- NP_001394892.1:p.His1733Leu
- NP_001394893.1:p.His1708Leu
- NP_001394894.1:p.His1693Leu
- NP_001394895.1:p.His1566Leu
- NP_001394896.1:p.His1565Leu
- NP_001394897.1:p.His994Leu
- NP_001394898.1:p.His993Leu
- NP_001394899.1:p.His781Leu
- NP_001394900.1:p.His781Leu
- NP_001394901.1:p.His780Leu
- NP_001394902.1:p.His759Leu
- NP_001394903.1:p.His759Leu
- NP_001394904.1:p.His759Leu
- NP_001394905.1:p.His759Leu
- NP_001394906.1:p.His759Leu
- NP_001394907.1:p.His759Leu
- NP_001394908.1:p.His758Leu
- NP_001394909.1:p.His758Leu
- NP_001394910.1:p.His758Leu
- NP_001394911.1:p.His758Leu
- NP_001394912.1:p.His758Leu
- NP_001394913.1:p.His758Leu
- NP_001394914.1:p.His758Leu
- NP_001394915.1:p.His758Leu
- NP_001394919.1:p.His758Leu
- NP_001394920.1:p.His758Leu
- NP_001394921.1:p.His758Leu
- NP_001394922.1:p.His758Leu
- NP_001395321.1:p.His757Leu
- NP_001395325.1:p.His757Leu
- NP_001395326.1:p.His757Leu
- NP_001395327.1:p.His757Leu
- NP_001395328.1:p.His757Leu
- NP_001395329.1:p.His757Leu
- NP_001395330.1:p.His757Leu
- NP_001395331.1:p.His757Leu
- NP_001395332.1:p.His757Leu
- NP_001395333.1:p.His757Leu
- NP_001395335.1:p.His756Leu
- NP_001395336.1:p.His756Leu
- NP_001395337.1:p.His756Leu
- NP_001395338.1:p.His755Leu
- NP_001395339.1:p.His734Leu
- NP_001395340.1:p.His733Leu
- NP_001395341.1:p.His732Leu
- NP_001395342.1:p.His732Leu
- NP_001395343.1:p.His732Leu
- NP_001395344.1:p.His732Leu
- NP_001395345.1:p.His732Leu
- NP_001395347.1:p.His720Leu
- NP_001395348.1:p.His720Leu
- NP_001395349.1:p.His720Leu
- NP_001395350.1:p.His719Leu
- NP_001395351.1:p.His719Leu
- NP_001395352.1:p.His719Leu
- NP_001395353.1:p.His719Leu
- NP_001395354.1:p.His718Leu
- NP_001395355.1:p.His718Leu
- NP_001395356.1:p.His718Leu
- NP_001395357.1:p.His718Leu
- NP_001395358.1:p.His718Leu
- NP_001395359.1:p.His718Leu
- NP_001395360.1:p.His718Leu
- NP_001395361.1:p.His717Leu
- NP_001395362.1:p.His717Leu
- NP_001395363.1:p.His717Leu
- NP_001395364.1:p.His717Leu
- NP_001395365.1:p.His717Leu
- NP_001395366.1:p.His717Leu
- NP_001395367.1:p.His717Leu
- NP_001395368.1:p.His717Leu
- NP_001395369.1:p.His717Leu
- NP_001395370.1:p.His717Leu
- NP_001395371.1:p.His717Leu
- NP_001395372.1:p.His717Leu
- NP_001395373.1:p.His717Leu
- NP_001395374.1:p.His716Leu
- NP_001395375.1:p.His716Leu
- NP_001395376.1:p.His716Leu
- NP_001395377.1:p.His716Leu
- NP_001395379.1:p.His716Leu
- NP_001395380.1:p.His714Leu
- NP_001395381.1:p.His712Leu
- NP_001395382.1:p.His712Leu
- NP_001395383.1:p.His712Leu
- NP_001395384.1:p.His712Leu
- NP_001395385.1:p.His712Leu
- NP_001395386.1:p.His712Leu
- NP_001395387.1:p.His711Leu
- NP_001395388.1:p.His711Leu
- NP_001395389.1:p.His711Leu
- NP_001395390.1:p.His711Leu
- NP_001395391.1:p.His711Leu
- NP_001395392.1:p.His711Leu
- NP_001395393.1:p.His711Leu
- NP_001395394.1:p.His711Leu
- NP_001395395.1:p.His711Leu
- NP_001395396.1:p.His711Leu
- NP_001395397.1:p.His710Leu
- NP_001395398.1:p.His710Leu
- NP_001395399.1:p.His710Leu
- NP_001395403.1:p.His692Leu
- NP_001395404.1:p.His691Leu
- NP_001395405.1:p.His691Leu
- NP_001395407.1:p.His689Leu
- NP_001395408.1:p.His689Leu
- NP_001395409.1:p.His689Leu
- NP_001395410.1:p.His688Leu
- NP_001395411.1:p.His688Leu
- NP_001395412.1:p.His688Leu
- NP_001395413.1:p.His688Leu
- NP_001395414.1:p.His688Leu
- NP_001395418.1:p.His688Leu
- NP_001395419.1:p.His688Leu
- NP_001395420.1:p.His688Leu
- NP_001395421.1:p.His687Leu
- NP_001395422.1:p.His687Leu
- NP_001395423.1:p.His679Leu
- NP_001395424.1:p.His677Leu
- NP_001395425.1:p.His671Leu
- NP_001395426.1:p.His671Leu
- NP_001395427.1:p.His671Leu
- NP_001395428.1:p.His671Leu
- NP_001395429.1:p.His671Leu
- NP_001395430.1:p.His671Leu
- NP_001395431.1:p.His670Leu
- NP_001395432.1:p.His670Leu
- NP_001395433.1:p.His670Leu
- NP_001395434.1:p.His669Leu
- NP_001395435.1:p.His650Leu
- NP_001395436.1:p.His649Leu
- NP_001395437.1:p.His646Leu
- NP_001395438.1:p.His645Leu
- NP_001395439.1:p.His632Leu
- NP_001395440.1:p.His631Leu
- NP_001395441.1:p.His591Leu
- NP_001395442.1:p.His582Leu
- NP_001395443.1:p.His450Leu
- NP_009225.1:p.His1862Leu
- NP_009225.1:p.His1862Leu
- NP_009228.2:p.His1815Leu
- NP_009229.2:p.His758Leu
- NP_009229.2:p.His758Leu
- NP_009231.2:p.His1883Leu
- NP_009235.2:p.His758Leu
- LRG_292t1:c.5585A>T
- LRG_292:g.172299A>T
- LRG_292p1:p.His1862Leu
- NC_000017.10:g.41197702T>A
- NM_007294.3:c.5585A>T
- NM_007298.3:c.2273A>T
- NR_027676.2:n.5762A>T
- P38398:p.His1862Leu
- U14680.1:n.5704A>T
This HGVS expression did not pass validation- Protein change:
- H1565L
- Links:
- UniProtKB: P38398#VAR_070519; dbSNP: rs80357183
- NCBI 1000 Genomes Browser:
- rs80357183
- Molecular consequence:
- NM_007299.4:c.*99A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
- NM_001407571.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5651A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5651A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5648A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5648A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5648A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5645A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5645A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.5582A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.5579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.5576A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.5576A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.5573A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.5570A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.5528A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.5525A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.5507A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.5507A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.5507A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.5507A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.5504A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.5504A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.5504A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.5501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.5501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.5501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.5501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.5501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.5462A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.5462A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.5462A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.5462A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.5462A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.5462A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.5459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.5456A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.5453A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.5453A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.5441A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.5384A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.5381A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.5378A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.5378A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.5369A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.5369A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.5369A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.5369A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.5333A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.5321A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.5318A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.5315A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.5315A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.5315A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.5249A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.5249A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.5249A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.5249A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.5249A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.5249A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.5246A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.5246A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.5246A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.5204A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.5201A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.5201A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.5198A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.5123A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.5078A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4697A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4694A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2981A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2978A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.2342A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.2342A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.2339A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.2276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.2276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.2276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.2276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.2276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.2276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.2270A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.2267A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.2267A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.2267A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.2264A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.2201A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.2198A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.2195A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.2195A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.2195A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.2195A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.2195A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.2159A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.2159A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.2159A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.2156A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.2156A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.2156A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.2156A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.2153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.2150A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.2147A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.2147A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.2147A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.2147A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.2147A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.2141A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.2135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.2135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.2135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.2135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.2135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.2135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.2132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.2129A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.2129A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.2129A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.2075A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.2072A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.2072A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.2066A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.2066A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.2066A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.2063A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.2060A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.2060A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.2036A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.2030A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.2012A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.2012A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.2012A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.2012A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.2012A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.2012A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.2009A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.2009A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.2009A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.2006A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1949A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1946A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1937A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1934A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1895A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1892A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1772A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1745A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.1349A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.5585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.5444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5648A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.2273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5762A>T - 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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000908971 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely benign (Nov 16, 2023) | germline | clinical testing | |
SCV002654144 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Likely benign (Sep 24, 2020) | 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
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
Bouwman P, van der Gulden H, van der Heijden I, Drost R, Klijn CN, Prasetyanti P, Pieterse M, Wientjens E, Seibler J, Hogervorst FB, Jonkers J.
Cancer Discov. 2013 Oct;3(10):1142-55. doi: 10.1158/2159-8290.CD-13-0094. Epub 2013 Jul 18.
- PMID:
- 23867111
Details of each submission
From Color Diagnostics, LLC DBA Color Health, SCV000908971.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | 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 Ambry Genetics, SCV002654144.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
Description
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
# | 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 1, 2024