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NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 19, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000855577.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)]

NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)

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.5531T>G (p.Leu1844Arg)
Other names:
p.L1844R:CTC>CGC
HGVS:
  • NC_000017.11:g.43045739A>C
  • NG_005905.2:g.172245T>G
  • NM_001407571.1:c.5318T>G
  • NM_001407581.1:c.5597T>G
  • NM_001407582.1:c.5597T>G
  • NM_001407583.1:c.5594T>G
  • NM_001407585.1:c.5594T>G
  • NM_001407587.1:c.5594T>G
  • NM_001407590.1:c.5591T>G
  • NM_001407591.1:c.5591T>G
  • NM_001407593.1:c.5531T>G
  • NM_001407594.1:c.5531T>G
  • NM_001407596.1:c.5531T>G
  • NM_001407597.1:c.5531T>G
  • NM_001407598.1:c.5531T>G
  • NM_001407602.1:c.5531T>G
  • NM_001407603.1:c.5531T>G
  • NM_001407605.1:c.5531T>G
  • NM_001407610.1:c.5528T>G
  • NM_001407611.1:c.5528T>G
  • NM_001407612.1:c.5528T>G
  • NM_001407613.1:c.5528T>G
  • NM_001407614.1:c.5528T>G
  • NM_001407615.1:c.5528T>G
  • NM_001407616.1:c.5528T>G
  • NM_001407617.1:c.5528T>G
  • NM_001407618.1:c.5528T>G
  • NM_001407619.1:c.5528T>G
  • NM_001407620.1:c.5528T>G
  • NM_001407621.1:c.5528T>G
  • NM_001407622.1:c.5528T>G
  • NM_001407623.1:c.5528T>G
  • NM_001407624.1:c.5528T>G
  • NM_001407625.1:c.5528T>G
  • NM_001407626.1:c.5528T>G
  • NM_001407627.1:c.5525T>G
  • NM_001407628.1:c.5525T>G
  • NM_001407629.1:c.5525T>G
  • NM_001407630.1:c.5525T>G
  • NM_001407631.1:c.5525T>G
  • NM_001407632.1:c.5525T>G
  • NM_001407633.1:c.5525T>G
  • NM_001407634.1:c.5525T>G
  • NM_001407635.1:c.5525T>G
  • NM_001407636.1:c.5525T>G
  • NM_001407637.1:c.5525T>G
  • NM_001407638.1:c.5525T>G
  • NM_001407639.1:c.5525T>G
  • NM_001407640.1:c.5525T>G
  • NM_001407641.1:c.5525T>G
  • NM_001407642.1:c.5525T>G
  • NM_001407644.1:c.5522T>G
  • NM_001407645.1:c.5522T>G
  • NM_001407646.1:c.5519T>G
  • NM_001407647.1:c.5516T>G
  • NM_001407648.1:c.5474T>G
  • NM_001407649.1:c.5471T>G
  • NM_001407652.1:c.5453T>G
  • NM_001407653.1:c.5453T>G
  • NM_001407654.1:c.5453T>G
  • NM_001407655.1:c.5453T>G
  • NM_001407656.1:c.5450T>G
  • NM_001407657.1:c.5450T>G
  • NM_001407658.1:c.5450T>G
  • NM_001407659.1:c.5447T>G
  • NM_001407660.1:c.5447T>G
  • NM_001407661.1:c.5447T>G
  • NM_001407662.1:c.5447T>G
  • NM_001407663.1:c.5447T>G
  • NM_001407664.1:c.5408T>G
  • NM_001407665.1:c.5408T>G
  • NM_001407666.1:c.5408T>G
  • NM_001407667.1:c.5408T>G
  • NM_001407668.1:c.5408T>G
  • NM_001407669.1:c.5408T>G
  • NM_001407670.1:c.5405T>G
  • NM_001407671.1:c.5405T>G
  • NM_001407672.1:c.5405T>G
  • NM_001407673.1:c.5405T>G
  • NM_001407674.1:c.5405T>G
  • NM_001407675.1:c.5405T>G
  • NM_001407676.1:c.5405T>G
  • NM_001407677.1:c.5405T>G
  • NM_001407678.1:c.5405T>G
  • NM_001407679.1:c.5405T>G
  • NM_001407680.1:c.5405T>G
  • NM_001407681.1:c.5402T>G
  • NM_001407682.1:c.5402T>G
  • NM_001407683.1:c.5402T>G
  • NM_001407684.1:c.5402T>G
  • NM_001407685.1:c.5402T>G
  • NM_001407686.1:c.5402T>G
  • NM_001407687.1:c.5402T>G
  • NM_001407688.1:c.5402T>G
  • NM_001407689.1:c.5402T>G
  • NM_001407690.1:c.5399T>G
  • NM_001407691.1:c.5399T>G
  • NM_001407692.1:c.5390T>G
  • NM_001407694.1:c.5390T>G
  • NM_001407695.1:c.5390T>G
  • NM_001407696.1:c.5390T>G
  • NM_001407697.1:c.5390T>G
  • NM_001407698.1:c.5390T>G
  • NM_001407724.1:c.5390T>G
  • NM_001407725.1:c.5390T>G
  • NM_001407726.1:c.5390T>G
  • NM_001407727.1:c.5390T>G
  • NM_001407728.1:c.5390T>G
  • NM_001407729.1:c.5390T>G
  • NM_001407730.1:c.5390T>G
  • NM_001407731.1:c.5390T>G
  • NM_001407732.1:c.5387T>G
  • NM_001407733.1:c.5387T>G
  • NM_001407734.1:c.5387T>G
  • NM_001407735.1:c.5387T>G
  • NM_001407736.1:c.5387T>G
  • NM_001407737.1:c.5387T>G
  • NM_001407738.1:c.5387T>G
  • NM_001407739.1:c.5387T>G
  • NM_001407740.1:c.5387T>G
  • NM_001407741.1:c.5387T>G
  • NM_001407742.1:c.5387T>G
  • NM_001407743.1:c.5387T>G
  • NM_001407744.1:c.5387T>G
  • NM_001407745.1:c.5387T>G
  • NM_001407746.1:c.5387T>G
  • NM_001407747.1:c.5387T>G
  • NM_001407748.1:c.5387T>G
  • NM_001407749.1:c.5387T>G
  • NM_001407750.1:c.5387T>G
  • NM_001407751.1:c.5387T>G
  • NM_001407752.1:c.5387T>G
  • NM_001407838.1:c.5384T>G
  • NM_001407839.1:c.5384T>G
  • NM_001407841.1:c.5384T>G
  • NM_001407842.1:c.5384T>G
  • NM_001407843.1:c.5384T>G
  • NM_001407844.1:c.5384T>G
  • NM_001407845.1:c.5384T>G
  • NM_001407846.1:c.5384T>G
  • NM_001407847.1:c.5384T>G
  • NM_001407848.1:c.5384T>G
  • NM_001407849.1:c.5384T>G
  • NM_001407850.1:c.5384T>G
  • NM_001407851.1:c.5384T>G
  • NM_001407852.1:c.5384T>G
  • NM_001407853.1:c.5384T>G
  • NM_001407854.1:c.*45T>G
  • NM_001407858.1:c.*45T>G
  • NM_001407859.1:c.*45T>G
  • NM_001407860.1:c.*45T>G
  • NM_001407861.1:c.*45T>G
  • NM_001407862.1:c.5330T>G
  • NM_001407863.1:c.5327T>G
  • NM_001407874.1:c.5324T>G
  • NM_001407875.1:c.5324T>G
  • NM_001407879.1:c.5321T>G
  • NM_001407881.1:c.5321T>G
  • NM_001407882.1:c.5321T>G
  • NM_001407884.1:c.5321T>G
  • NM_001407885.1:c.5321T>G
  • NM_001407886.1:c.5321T>G
  • NM_001407887.1:c.5321T>G
  • NM_001407889.1:c.5321T>G
  • NM_001407894.1:c.5318T>G
  • NM_001407895.1:c.5318T>G
  • NM_001407896.1:c.5318T>G
  • NM_001407897.1:c.5318T>G
  • NM_001407898.1:c.5318T>G
  • NM_001407899.1:c.5318T>G
  • NM_001407900.1:c.5318T>G
  • NM_001407902.1:c.5318T>G
  • NM_001407904.1:c.5318T>G
  • NM_001407906.1:c.5318T>G
  • NM_001407907.1:c.5318T>G
  • NM_001407908.1:c.5318T>G
  • NM_001407909.1:c.5318T>G
  • NM_001407910.1:c.5318T>G
  • NM_001407915.1:c.5315T>G
  • NM_001407916.1:c.5315T>G
  • NM_001407917.1:c.5315T>G
  • NM_001407918.1:c.5315T>G
  • NM_001407919.1:c.5279T>G
  • NM_001407920.1:c.5267T>G
  • NM_001407921.1:c.5267T>G
  • NM_001407922.1:c.5267T>G
  • NM_001407923.1:c.5267T>G
  • NM_001407924.1:c.5267T>G
  • NM_001407925.1:c.5267T>G
  • NM_001407926.1:c.5267T>G
  • NM_001407927.1:c.5264T>G
  • NM_001407928.1:c.5264T>G
  • NM_001407929.1:c.5264T>G
  • NM_001407930.1:c.5264T>G
  • NM_001407931.1:c.5264T>G
  • NM_001407932.1:c.5264T>G
  • NM_001407933.1:c.5264T>G
  • NM_001407934.1:c.5261T>G
  • NM_001407935.1:c.5261T>G
  • NM_001407936.1:c.5261T>G
  • NM_001407937.1:c.*45T>G
  • NM_001407938.1:c.*45T>G
  • NM_001407939.1:c.*45T>G
  • NM_001407940.1:c.*45T>G
  • NM_001407941.1:c.*45T>G
  • NM_001407942.1:c.*45T>G
  • NM_001407943.1:c.*45T>G
  • NM_001407944.1:c.*45T>G
  • NM_001407945.1:c.*45T>G
  • NM_001407946.1:c.5198T>G
  • NM_001407947.1:c.5198T>G
  • NM_001407948.1:c.5198T>G
  • NM_001407949.1:c.5198T>G
  • NM_001407950.1:c.5195T>G
  • NM_001407951.1:c.5195T>G
  • NM_001407952.1:c.5195T>G
  • NM_001407953.1:c.5195T>G
  • NM_001407954.1:c.5195T>G
  • NM_001407955.1:c.5195T>G
  • NM_001407956.1:c.5192T>G
  • NM_001407957.1:c.5192T>G
  • NM_001407958.1:c.5192T>G
  • NM_001407959.1:c.5150T>G
  • NM_001407960.1:c.5147T>G
  • NM_001407962.1:c.5147T>G
  • NM_001407963.1:c.5144T>G
  • NM_001407964.1:c.5069T>G
  • NM_001407965.1:c.5024T>G
  • NM_001407966.1:c.4643T>G
  • NM_001407967.1:c.4640T>G
  • NM_001407968.1:c.2927T>G
  • NM_001407969.1:c.2924T>G
  • NM_001407970.1:c.2288T>G
  • NM_001407971.1:c.2288T>G
  • NM_001407972.1:c.2285T>G
  • NM_001407973.1:c.2222T>G
  • NM_001407974.1:c.2222T>G
  • NM_001407975.1:c.2222T>G
  • NM_001407976.1:c.2222T>G
  • NM_001407977.1:c.2222T>G
  • NM_001407978.1:c.2222T>G
  • NM_001407979.1:c.2219T>G
  • NM_001407980.1:c.2219T>G
  • NM_001407981.1:c.2219T>G
  • NM_001407982.1:c.2219T>G
  • NM_001407983.1:c.2219T>G
  • NM_001407984.1:c.2219T>G
  • NM_001407985.1:c.2219T>G
  • NM_001407986.1:c.2219T>G
  • NM_001407990.1:c.2219T>G
  • NM_001407991.1:c.2219T>G
  • NM_001407992.1:c.2219T>G
  • NM_001407993.1:c.2219T>G
  • NM_001408392.1:c.2216T>G
  • NM_001408396.1:c.2216T>G
  • NM_001408397.1:c.2216T>G
  • NM_001408398.1:c.2216T>G
  • NM_001408399.1:c.2216T>G
  • NM_001408400.1:c.2216T>G
  • NM_001408401.1:c.2216T>G
  • NM_001408402.1:c.2216T>G
  • NM_001408403.1:c.2216T>G
  • NM_001408404.1:c.2216T>G
  • NM_001408406.1:c.2213T>G
  • NM_001408407.1:c.2213T>G
  • NM_001408408.1:c.2213T>G
  • NM_001408409.1:c.2210T>G
  • NM_001408410.1:c.2147T>G
  • NM_001408411.1:c.2144T>G
  • NM_001408412.1:c.2141T>G
  • NM_001408413.1:c.2141T>G
  • NM_001408414.1:c.2141T>G
  • NM_001408415.1:c.2141T>G
  • NM_001408416.1:c.2141T>G
  • NM_001408418.1:c.2105T>G
  • NM_001408419.1:c.2105T>G
  • NM_001408420.1:c.2105T>G
  • NM_001408421.1:c.2102T>G
  • NM_001408422.1:c.2102T>G
  • NM_001408423.1:c.2102T>G
  • NM_001408424.1:c.2102T>G
  • NM_001408425.1:c.2099T>G
  • NM_001408426.1:c.2099T>G
  • NM_001408427.1:c.2099T>G
  • NM_001408428.1:c.2099T>G
  • NM_001408429.1:c.2099T>G
  • NM_001408430.1:c.2099T>G
  • NM_001408431.1:c.2099T>G
  • NM_001408432.1:c.2096T>G
  • NM_001408433.1:c.2096T>G
  • NM_001408434.1:c.2096T>G
  • NM_001408435.1:c.2096T>G
  • NM_001408436.1:c.2096T>G
  • NM_001408437.1:c.2096T>G
  • NM_001408438.1:c.2096T>G
  • NM_001408439.1:c.2096T>G
  • NM_001408440.1:c.2096T>G
  • NM_001408441.1:c.2096T>G
  • NM_001408442.1:c.2096T>G
  • NM_001408443.1:c.2096T>G
  • NM_001408444.1:c.2096T>G
  • NM_001408445.1:c.2093T>G
  • NM_001408446.1:c.2093T>G
  • NM_001408447.1:c.2093T>G
  • NM_001408448.1:c.2093T>G
  • NM_001408450.1:c.2093T>G
  • NM_001408451.1:c.2087T>G
  • NM_001408452.1:c.2081T>G
  • NM_001408453.1:c.2081T>G
  • NM_001408454.1:c.2081T>G
  • NM_001408455.1:c.2081T>G
  • NM_001408456.1:c.2081T>G
  • NM_001408457.1:c.2081T>G
  • NM_001408458.1:c.2078T>G
  • NM_001408459.1:c.2078T>G
  • NM_001408460.1:c.2078T>G
  • NM_001408461.1:c.2078T>G
  • NM_001408462.1:c.2078T>G
  • NM_001408463.1:c.2078T>G
  • NM_001408464.1:c.2078T>G
  • NM_001408465.1:c.2078T>G
  • NM_001408466.1:c.2078T>G
  • NM_001408467.1:c.2078T>G
  • NM_001408468.1:c.2075T>G
  • NM_001408469.1:c.2075T>G
  • NM_001408470.1:c.2075T>G
  • NM_001408472.1:c.*45T>G
  • NM_001408473.1:c.*45T>G
  • NM_001408474.1:c.2021T>G
  • NM_001408475.1:c.2018T>G
  • NM_001408476.1:c.2018T>G
  • NM_001408478.1:c.2012T>G
  • NM_001408479.1:c.2012T>G
  • NM_001408480.1:c.2012T>G
  • NM_001408481.1:c.2009T>G
  • NM_001408482.1:c.2009T>G
  • NM_001408483.1:c.2009T>G
  • NM_001408484.1:c.2009T>G
  • NM_001408485.1:c.2009T>G
  • NM_001408489.1:c.2009T>G
  • NM_001408490.1:c.2009T>G
  • NM_001408491.1:c.2009T>G
  • NM_001408492.1:c.2006T>G
  • NM_001408493.1:c.2006T>G
  • NM_001408494.1:c.1982T>G
  • NM_001408495.1:c.1976T>G
  • NM_001408496.1:c.1958T>G
  • NM_001408497.1:c.1958T>G
  • NM_001408498.1:c.1958T>G
  • NM_001408499.1:c.1958T>G
  • NM_001408500.1:c.1958T>G
  • NM_001408501.1:c.1958T>G
  • NM_001408502.1:c.1955T>G
  • NM_001408503.1:c.1955T>G
  • NM_001408504.1:c.1955T>G
  • NM_001408505.1:c.1952T>G
  • NM_001408506.1:c.1895T>G
  • NM_001408507.1:c.1892T>G
  • NM_001408508.1:c.1883T>G
  • NM_001408509.1:c.1880T>G
  • NM_001408510.1:c.1841T>G
  • NM_001408511.1:c.1838T>G
  • NM_001408512.1:c.1718T>G
  • NM_001408513.1:c.1691T>G
  • NM_001408514.1:c.1295T>G
  • NM_007294.4:c.5531T>GMANE SELECT
  • NM_007297.4:c.5390T>G
  • NM_007298.4:c.2219T>G
  • NM_007299.4:c.*45T>G
  • NM_007300.4:c.5594T>G
  • NM_007304.2:c.2219T>G
  • NP_001394500.1:p.Leu1773Arg
  • NP_001394510.1:p.Leu1866Arg
  • NP_001394511.1:p.Leu1866Arg
  • NP_001394512.1:p.Leu1865Arg
  • NP_001394514.1:p.Leu1865Arg
  • NP_001394516.1:p.Leu1865Arg
  • NP_001394519.1:p.Leu1864Arg
  • NP_001394520.1:p.Leu1864Arg
  • NP_001394522.1:p.Leu1844Arg
  • NP_001394523.1:p.Leu1844Arg
  • NP_001394525.1:p.Leu1844Arg
  • NP_001394526.1:p.Leu1844Arg
  • NP_001394527.1:p.Leu1844Arg
  • NP_001394531.1:p.Leu1844Arg
  • NP_001394532.1:p.Leu1844Arg
  • NP_001394534.1:p.Leu1844Arg
  • NP_001394539.1:p.Leu1843Arg
  • NP_001394540.1:p.Leu1843Arg
  • NP_001394541.1:p.Leu1843Arg
  • NP_001394542.1:p.Leu1843Arg
  • NP_001394543.1:p.Leu1843Arg
  • NP_001394544.1:p.Leu1843Arg
  • NP_001394545.1:p.Leu1843Arg
  • NP_001394546.1:p.Leu1843Arg
  • NP_001394547.1:p.Leu1843Arg
  • NP_001394548.1:p.Leu1843Arg
  • NP_001394549.1:p.Leu1843Arg
  • NP_001394550.1:p.Leu1843Arg
  • NP_001394551.1:p.Leu1843Arg
  • NP_001394552.1:p.Leu1843Arg
  • NP_001394553.1:p.Leu1843Arg
  • NP_001394554.1:p.Leu1843Arg
  • NP_001394555.1:p.Leu1843Arg
  • NP_001394556.1:p.Leu1842Arg
  • NP_001394557.1:p.Leu1842Arg
  • NP_001394558.1:p.Leu1842Arg
  • NP_001394559.1:p.Leu1842Arg
  • NP_001394560.1:p.Leu1842Arg
  • NP_001394561.1:p.Leu1842Arg
  • NP_001394562.1:p.Leu1842Arg
  • NP_001394563.1:p.Leu1842Arg
  • NP_001394564.1:p.Leu1842Arg
  • NP_001394565.1:p.Leu1842Arg
  • NP_001394566.1:p.Leu1842Arg
  • NP_001394567.1:p.Leu1842Arg
  • NP_001394568.1:p.Leu1842Arg
  • NP_001394569.1:p.Leu1842Arg
  • NP_001394570.1:p.Leu1842Arg
  • NP_001394571.1:p.Leu1842Arg
  • NP_001394573.1:p.Leu1841Arg
  • NP_001394574.1:p.Leu1841Arg
  • NP_001394575.1:p.Leu1840Arg
  • NP_001394576.1:p.Leu1839Arg
  • NP_001394577.1:p.Leu1825Arg
  • NP_001394578.1:p.Leu1824Arg
  • NP_001394581.1:p.Leu1818Arg
  • NP_001394582.1:p.Leu1818Arg
  • NP_001394583.1:p.Leu1818Arg
  • NP_001394584.1:p.Leu1818Arg
  • NP_001394585.1:p.Leu1817Arg
  • NP_001394586.1:p.Leu1817Arg
  • NP_001394587.1:p.Leu1817Arg
  • NP_001394588.1:p.Leu1816Arg
  • NP_001394589.1:p.Leu1816Arg
  • NP_001394590.1:p.Leu1816Arg
  • NP_001394591.1:p.Leu1816Arg
  • NP_001394592.1:p.Leu1816Arg
  • NP_001394593.1:p.Leu1803Arg
  • NP_001394594.1:p.Leu1803Arg
  • NP_001394595.1:p.Leu1803Arg
  • NP_001394596.1:p.Leu1803Arg
  • NP_001394597.1:p.Leu1803Arg
  • NP_001394598.1:p.Leu1803Arg
  • NP_001394599.1:p.Leu1802Arg
  • NP_001394600.1:p.Leu1802Arg
  • NP_001394601.1:p.Leu1802Arg
  • NP_001394602.1:p.Leu1802Arg
  • NP_001394603.1:p.Leu1802Arg
  • NP_001394604.1:p.Leu1802Arg
  • NP_001394605.1:p.Leu1802Arg
  • NP_001394606.1:p.Leu1802Arg
  • NP_001394607.1:p.Leu1802Arg
  • NP_001394608.1:p.Leu1802Arg
  • NP_001394609.1:p.Leu1802Arg
  • NP_001394610.1:p.Leu1801Arg
  • NP_001394611.1:p.Leu1801Arg
  • NP_001394612.1:p.Leu1801Arg
  • NP_001394613.1:p.Leu1801Arg
  • NP_001394614.1:p.Leu1801Arg
  • NP_001394615.1:p.Leu1801Arg
  • NP_001394616.1:p.Leu1801Arg
  • NP_001394617.1:p.Leu1801Arg
  • NP_001394618.1:p.Leu1801Arg
  • NP_001394619.1:p.Leu1800Arg
  • NP_001394620.1:p.Leu1800Arg
  • NP_001394621.1:p.Leu1797Arg
  • NP_001394623.1:p.Leu1797Arg
  • NP_001394624.1:p.Leu1797Arg
  • NP_001394625.1:p.Leu1797Arg
  • NP_001394626.1:p.Leu1797Arg
  • NP_001394627.1:p.Leu1797Arg
  • NP_001394653.1:p.Leu1797Arg
  • NP_001394654.1:p.Leu1797Arg
  • NP_001394655.1:p.Leu1797Arg
  • NP_001394656.1:p.Leu1797Arg
  • NP_001394657.1:p.Leu1797Arg
  • NP_001394658.1:p.Leu1797Arg
  • NP_001394659.1:p.Leu1797Arg
  • NP_001394660.1:p.Leu1797Arg
  • NP_001394661.1:p.Leu1796Arg
  • NP_001394662.1:p.Leu1796Arg
  • NP_001394663.1:p.Leu1796Arg
  • NP_001394664.1:p.Leu1796Arg
  • NP_001394665.1:p.Leu1796Arg
  • NP_001394666.1:p.Leu1796Arg
  • NP_001394667.1:p.Leu1796Arg
  • NP_001394668.1:p.Leu1796Arg
  • NP_001394669.1:p.Leu1796Arg
  • NP_001394670.1:p.Leu1796Arg
  • NP_001394671.1:p.Leu1796Arg
  • NP_001394672.1:p.Leu1796Arg
  • NP_001394673.1:p.Leu1796Arg
  • NP_001394674.1:p.Leu1796Arg
  • NP_001394675.1:p.Leu1796Arg
  • NP_001394676.1:p.Leu1796Arg
  • NP_001394677.1:p.Leu1796Arg
  • NP_001394678.1:p.Leu1796Arg
  • NP_001394679.1:p.Leu1796Arg
  • NP_001394680.1:p.Leu1796Arg
  • NP_001394681.1:p.Leu1796Arg
  • NP_001394767.1:p.Leu1795Arg
  • NP_001394768.1:p.Leu1795Arg
  • NP_001394770.1:p.Leu1795Arg
  • NP_001394771.1:p.Leu1795Arg
  • NP_001394772.1:p.Leu1795Arg
  • NP_001394773.1:p.Leu1795Arg
  • NP_001394774.1:p.Leu1795Arg
  • NP_001394775.1:p.Leu1795Arg
  • NP_001394776.1:p.Leu1795Arg
  • NP_001394777.1:p.Leu1795Arg
  • NP_001394778.1:p.Leu1795Arg
  • NP_001394779.1:p.Leu1795Arg
  • NP_001394780.1:p.Leu1795Arg
  • NP_001394781.1:p.Leu1795Arg
  • NP_001394782.1:p.Leu1795Arg
  • NP_001394791.1:p.Leu1777Arg
  • NP_001394792.1:p.Leu1776Arg
  • NP_001394803.1:p.Leu1775Arg
  • NP_001394804.1:p.Leu1775Arg
  • NP_001394808.1:p.Leu1774Arg
  • NP_001394810.1:p.Leu1774Arg
  • NP_001394811.1:p.Leu1774Arg
  • NP_001394813.1:p.Leu1774Arg
  • NP_001394814.1:p.Leu1774Arg
  • NP_001394815.1:p.Leu1774Arg
  • NP_001394816.1:p.Leu1774Arg
  • NP_001394818.1:p.Leu1774Arg
  • NP_001394823.1:p.Leu1773Arg
  • NP_001394824.1:p.Leu1773Arg
  • NP_001394825.1:p.Leu1773Arg
  • NP_001394826.1:p.Leu1773Arg
  • NP_001394827.1:p.Leu1773Arg
  • NP_001394828.1:p.Leu1773Arg
  • NP_001394829.1:p.Leu1773Arg
  • NP_001394831.1:p.Leu1773Arg
  • NP_001394833.1:p.Leu1773Arg
  • NP_001394835.1:p.Leu1773Arg
  • NP_001394836.1:p.Leu1773Arg
  • NP_001394837.1:p.Leu1773Arg
  • NP_001394838.1:p.Leu1773Arg
  • NP_001394839.1:p.Leu1773Arg
  • NP_001394844.1:p.Leu1772Arg
  • NP_001394845.1:p.Leu1772Arg
  • NP_001394846.1:p.Leu1772Arg
  • NP_001394847.1:p.Leu1772Arg
  • NP_001394848.1:p.Leu1760Arg
  • NP_001394849.1:p.Leu1756Arg
  • NP_001394850.1:p.Leu1756Arg
  • NP_001394851.1:p.Leu1756Arg
  • NP_001394852.1:p.Leu1756Arg
  • NP_001394853.1:p.Leu1756Arg
  • NP_001394854.1:p.Leu1756Arg
  • NP_001394855.1:p.Leu1756Arg
  • NP_001394856.1:p.Leu1755Arg
  • NP_001394857.1:p.Leu1755Arg
  • NP_001394858.1:p.Leu1755Arg
  • NP_001394859.1:p.Leu1755Arg
  • NP_001394860.1:p.Leu1755Arg
  • NP_001394861.1:p.Leu1755Arg
  • NP_001394862.1:p.Leu1755Arg
  • NP_001394863.1:p.Leu1754Arg
  • NP_001394864.1:p.Leu1754Arg
  • NP_001394865.1:p.Leu1754Arg
  • NP_001394875.1:p.Leu1733Arg
  • NP_001394876.1:p.Leu1733Arg
  • NP_001394877.1:p.Leu1733Arg
  • NP_001394878.1:p.Leu1733Arg
  • NP_001394879.1:p.Leu1732Arg
  • NP_001394880.1:p.Leu1732Arg
  • NP_001394881.1:p.Leu1732Arg
  • NP_001394882.1:p.Leu1732Arg
  • NP_001394883.1:p.Leu1732Arg
  • NP_001394884.1:p.Leu1732Arg
  • NP_001394885.1:p.Leu1731Arg
  • NP_001394886.1:p.Leu1731Arg
  • NP_001394887.1:p.Leu1731Arg
  • NP_001394888.1:p.Leu1717Arg
  • NP_001394889.1:p.Leu1716Arg
  • NP_001394891.1:p.Leu1716Arg
  • NP_001394892.1:p.Leu1715Arg
  • NP_001394893.1:p.Leu1690Arg
  • NP_001394894.1:p.Leu1675Arg
  • NP_001394895.1:p.Leu1548Arg
  • NP_001394896.1:p.Leu1547Arg
  • NP_001394897.1:p.Leu976Arg
  • NP_001394898.1:p.Leu975Arg
  • NP_001394899.1:p.Leu763Arg
  • NP_001394900.1:p.Leu763Arg
  • NP_001394901.1:p.Leu762Arg
  • NP_001394902.1:p.Leu741Arg
  • NP_001394903.1:p.Leu741Arg
  • NP_001394904.1:p.Leu741Arg
  • NP_001394905.1:p.Leu741Arg
  • NP_001394906.1:p.Leu741Arg
  • NP_001394907.1:p.Leu741Arg
  • NP_001394908.1:p.Leu740Arg
  • NP_001394909.1:p.Leu740Arg
  • NP_001394910.1:p.Leu740Arg
  • NP_001394911.1:p.Leu740Arg
  • NP_001394912.1:p.Leu740Arg
  • NP_001394913.1:p.Leu740Arg
  • NP_001394914.1:p.Leu740Arg
  • NP_001394915.1:p.Leu740Arg
  • NP_001394919.1:p.Leu740Arg
  • NP_001394920.1:p.Leu740Arg
  • NP_001394921.1:p.Leu740Arg
  • NP_001394922.1:p.Leu740Arg
  • NP_001395321.1:p.Leu739Arg
  • NP_001395325.1:p.Leu739Arg
  • NP_001395326.1:p.Leu739Arg
  • NP_001395327.1:p.Leu739Arg
  • NP_001395328.1:p.Leu739Arg
  • NP_001395329.1:p.Leu739Arg
  • NP_001395330.1:p.Leu739Arg
  • NP_001395331.1:p.Leu739Arg
  • NP_001395332.1:p.Leu739Arg
  • NP_001395333.1:p.Leu739Arg
  • NP_001395335.1:p.Leu738Arg
  • NP_001395336.1:p.Leu738Arg
  • NP_001395337.1:p.Leu738Arg
  • NP_001395338.1:p.Leu737Arg
  • NP_001395339.1:p.Leu716Arg
  • NP_001395340.1:p.Leu715Arg
  • NP_001395341.1:p.Leu714Arg
  • NP_001395342.1:p.Leu714Arg
  • NP_001395343.1:p.Leu714Arg
  • NP_001395344.1:p.Leu714Arg
  • NP_001395345.1:p.Leu714Arg
  • NP_001395347.1:p.Leu702Arg
  • NP_001395348.1:p.Leu702Arg
  • NP_001395349.1:p.Leu702Arg
  • NP_001395350.1:p.Leu701Arg
  • NP_001395351.1:p.Leu701Arg
  • NP_001395352.1:p.Leu701Arg
  • NP_001395353.1:p.Leu701Arg
  • NP_001395354.1:p.Leu700Arg
  • NP_001395355.1:p.Leu700Arg
  • NP_001395356.1:p.Leu700Arg
  • NP_001395357.1:p.Leu700Arg
  • NP_001395358.1:p.Leu700Arg
  • NP_001395359.1:p.Leu700Arg
  • NP_001395360.1:p.Leu700Arg
  • NP_001395361.1:p.Leu699Arg
  • NP_001395362.1:p.Leu699Arg
  • NP_001395363.1:p.Leu699Arg
  • NP_001395364.1:p.Leu699Arg
  • NP_001395365.1:p.Leu699Arg
  • NP_001395366.1:p.Leu699Arg
  • NP_001395367.1:p.Leu699Arg
  • NP_001395368.1:p.Leu699Arg
  • NP_001395369.1:p.Leu699Arg
  • NP_001395370.1:p.Leu699Arg
  • NP_001395371.1:p.Leu699Arg
  • NP_001395372.1:p.Leu699Arg
  • NP_001395373.1:p.Leu699Arg
  • NP_001395374.1:p.Leu698Arg
  • NP_001395375.1:p.Leu698Arg
  • NP_001395376.1:p.Leu698Arg
  • NP_001395377.1:p.Leu698Arg
  • NP_001395379.1:p.Leu698Arg
  • NP_001395380.1:p.Leu696Arg
  • NP_001395381.1:p.Leu694Arg
  • NP_001395382.1:p.Leu694Arg
  • NP_001395383.1:p.Leu694Arg
  • NP_001395384.1:p.Leu694Arg
  • NP_001395385.1:p.Leu694Arg
  • NP_001395386.1:p.Leu694Arg
  • NP_001395387.1:p.Leu693Arg
  • NP_001395388.1:p.Leu693Arg
  • NP_001395389.1:p.Leu693Arg
  • NP_001395390.1:p.Leu693Arg
  • NP_001395391.1:p.Leu693Arg
  • NP_001395392.1:p.Leu693Arg
  • NP_001395393.1:p.Leu693Arg
  • NP_001395394.1:p.Leu693Arg
  • NP_001395395.1:p.Leu693Arg
  • NP_001395396.1:p.Leu693Arg
  • NP_001395397.1:p.Leu692Arg
  • NP_001395398.1:p.Leu692Arg
  • NP_001395399.1:p.Leu692Arg
  • NP_001395403.1:p.Leu674Arg
  • NP_001395404.1:p.Leu673Arg
  • NP_001395405.1:p.Leu673Arg
  • NP_001395407.1:p.Leu671Arg
  • NP_001395408.1:p.Leu671Arg
  • NP_001395409.1:p.Leu671Arg
  • NP_001395410.1:p.Leu670Arg
  • NP_001395411.1:p.Leu670Arg
  • NP_001395412.1:p.Leu670Arg
  • NP_001395413.1:p.Leu670Arg
  • NP_001395414.1:p.Leu670Arg
  • NP_001395418.1:p.Leu670Arg
  • NP_001395419.1:p.Leu670Arg
  • NP_001395420.1:p.Leu670Arg
  • NP_001395421.1:p.Leu669Arg
  • NP_001395422.1:p.Leu669Arg
  • NP_001395423.1:p.Leu661Arg
  • NP_001395424.1:p.Leu659Arg
  • NP_001395425.1:p.Leu653Arg
  • NP_001395426.1:p.Leu653Arg
  • NP_001395427.1:p.Leu653Arg
  • NP_001395428.1:p.Leu653Arg
  • NP_001395429.1:p.Leu653Arg
  • NP_001395430.1:p.Leu653Arg
  • NP_001395431.1:p.Leu652Arg
  • NP_001395432.1:p.Leu652Arg
  • NP_001395433.1:p.Leu652Arg
  • NP_001395434.1:p.Leu651Arg
  • NP_001395435.1:p.Leu632Arg
  • NP_001395436.1:p.Leu631Arg
  • NP_001395437.1:p.Leu628Arg
  • NP_001395438.1:p.Leu627Arg
  • NP_001395439.1:p.Leu614Arg
  • NP_001395440.1:p.Leu613Arg
  • NP_001395441.1:p.Leu573Arg
  • NP_001395442.1:p.Leu564Arg
  • NP_001395443.1:p.Leu432Arg
  • NP_009225.1:p.Leu1844Arg
  • NP_009225.1:p.Leu1844Arg
  • NP_009228.2:p.Leu1797Arg
  • NP_009229.2:p.Leu740Arg
  • NP_009229.2:p.Leu740Arg
  • NP_009231.2:p.Leu1865Arg
  • NP_009235.2:p.Leu740Arg
  • LRG_292t1:c.5531T>G
  • LRG_292:g.172245T>G
  • LRG_292p1:p.Leu1844Arg
  • NC_000017.10:g.41197756A>C
  • NM_007294.3:c.5531T>G
  • NM_007298.3:c.2219T>G
  • NR_027676.2:n.5708T>G
  • U14680.1:n.5650T>G
  • p.L1844R
Nucleotide change:
5650T>G
Protein change:
L1547R
Links:
dbSNP: rs80357323
NCBI 1000 Genomes Browser:
rs80357323
Molecular consequence:
  • NM_007299.4:c.*45T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001407571.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5597T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5597T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5594T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5594T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5594T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5591T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5591T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5522T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5522T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5519T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5516T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5474T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5471T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5453T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5453T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5453T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5453T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5450T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5450T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5450T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5447T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5447T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5447T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5447T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5447T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5402T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5399T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5399T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5384T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5330T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5327T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5324T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5324T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5321T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5315T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5315T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5315T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5315T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.5279T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.5267T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.5264T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.5261T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.5261T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.5261T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.5198T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.5198T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.5198T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.5198T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.5195T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.5195T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.5195T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.5195T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.5195T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.5195T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.5192T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.5192T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.5192T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.5150T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.5147T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.5147T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.5144T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.5069T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.5024T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4643T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4640T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2927T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2924T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.2288T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.2288T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.2285T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.2222T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.2222T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.2222T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.2222T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.2222T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.2222T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.2216T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.2213T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.2213T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.2213T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.2210T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.2147T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.2144T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.2105T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.2105T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.2105T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.2102T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.2102T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.2102T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.2102T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.2096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.2093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.2093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.2093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.2093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.2093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.2087T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.2081T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.2081T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.2081T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.2081T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.2081T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.2081T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.2078T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.2075T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.2075T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.2075T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.2021T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.2018T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.2018T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.2012T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.2012T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.2012T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.2009T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.2006T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.2006T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1982T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1976T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1955T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1955T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1955T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1895T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1892T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1841T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1838T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1718T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1691T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1295T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5531T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5390T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5594T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.2219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5708T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000699270Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Mar 19, 2024) 		germlineclinical testing

PubMed (11)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

Lee MS, Green R, Marsillac SM, Coquelle N, Williams RS, Yeung T, Foo D, Hau DD, Hui B, Monteiro AN, Glover JN.

Cancer Res. 2010 Jun 15;70(12):4880-90. doi: 10.1158/0008-5472.CAN-09-4563. Epub 2010 Jun 1.

PubMed [citation]
PMID:
20516115
PMCID:
PMC3040717
See all PubMed Citations (11)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699270.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (11)

Description

Variant summary: BRCA1 c.5531T>G (p.Leu1844Arg) results in a non-conservative amino acid change located in the BRCT domain (IPR001357) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 250824 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5531T>G has been reported in the literature in individuals affected with Breast and Ovarian Cancer (Dean_2015, Peixoto_2014, Judkins_2005, Guindalini_2022, deOliveira_2022) and in an individual with Sebacious Carcinoma in whom a different somatic etiology, namely a somatic inactivation of MSH2 and MSH6 genes was reported (Wield_2018). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Several publications report experimental evidence evaluating an impact on protein function by transcriptional activation assays (example, Lee_2010, Woods_2016, Fernandes_2019). These results have consistently demonstrated no damaging effect of this variant. The following publications have been ascertained in the context of this evaluation (PMID: 24845084, 26543556, 30765603, 35264596, 16267036, 17305420, 20516115, 24916970, 30225334, 28781887, 35534704, Iversen et al). ClinVar contains an entry for this variant (Variation ID: 55615). Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Nov 10, 2024