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NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu) AND Malignant tumor of breast

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001356964.10

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
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:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001552271Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

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Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001552271.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRCA1 p.His1862Leu variant was identified in the literature in a study that showed the variant was able to support growth of Brca1–null murine cells in a functional complementation assay (Bouwman 2013). The variant was also identified in dbSNP (ID: rs80357183) as "With Uncertain significance allele", ClinVar (classified as uncertain significance by Invitae and BIC), MutDB, LOVD 3.0 (13x), and BIC Database (1x with unknown significance). The variant was not identified in the Cosmic, COGR, UMD-LSDB, ARUP Laboratories, or Zhejiang University databases. The variant was identified in control databases in 1 of 245632 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the European population in 1 of 111370 chromosomes (freq: 0.000009), while the variant was not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The p.His1862 residue is not conserved in mammals and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and 1 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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

Last Updated: Jul 23, 2024