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NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Benign (5 submissions)
Last evaluated:
Jun 18, 2019
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000083221.19

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)
Observations:
6

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000115295Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Likely benign
(May 1, 2012)
germlineclinical testing

SCV000145568Breast Cancer Information Core (BIC) (BRCA1)
no classification provided
not providedgermlineclinical testing

SCV000489614Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))
Uncertain significance
(Nov 2, 2016)
unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV001161503Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))
Benign
(Jun 18, 2019)
germlinecuration

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

Citation Link,

SCV001243514Brotman Baty Institute, University of Washington
no classification provided
not providednot applicablein vitro

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
not providedgermlinenot provided2not providednot provided2not providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Ashkenazigermlineyes1not providednot providednot providednot providedclinical testing
Caucasian Non Hispanicgermlineyes1not providednot providednot providednot providedclinical testing
Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing
Jewishgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Functional impact of missense variants in BRCA1 predicted by supervised learning.

Karchin R, Monteiro AN, Tavtigian SV, Carvalho MA, Sali A.

PLoS Comput Biol. 2007 Feb 16;3(2):e26. Epub 2006 Dec 28.

PubMed [citation]
PMID:
17305420
PMCID:
PMC1797820

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

Iversen ES Jr, Couch FJ, Goldgar DE, Tavtigian SV, Monteiro AN.

Cancer Epidemiol Biomarkers Prev. 2011 Jun;20(6):1078-88. doi: 10.1158/1055-9965.EPI-10-1214. Epub 2011 Mar 29.

PubMed [citation]
PMID:
21447777
PMCID:
PMC3111818
See all PubMed Citations (7)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115295.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided2not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145568.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Ashkenazi1not providednot providedclinical testingnot provided
2Caucasian Non Hispanic1not providednot providedclinical testingnot provided
3Central/Eastern European1not providednot providedclinical testingnot provided
4Jewish1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided1not providednot providednot provided
4germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000489614.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161503.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000321

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

From Brotman Baty Institute, University of Washington, SCV001243514.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024