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NM_007294.4(BRCA1):c.5531T>C (p.Leu1844Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 18, 2015
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:
RCV000484935.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.5531T>C (p.Leu1844Pro)]

NM_007294.4(BRCA1):c.5531T>C (p.Leu1844Pro)

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>C (p.Leu1844Pro)
HGVS:
  • NC_000017.11:g.43045739A>G
  • NG_005905.2:g.172245T>C
  • NM_001407571.1:c.5318T>C
  • NM_001407581.1:c.5597T>C
  • NM_001407582.1:c.5597T>C
  • NM_001407583.1:c.5594T>C
  • NM_001407585.1:c.5594T>C
  • NM_001407587.1:c.5594T>C
  • NM_001407590.1:c.5591T>C
  • NM_001407591.1:c.5591T>C
  • NM_001407593.1:c.5531T>C
  • NM_001407594.1:c.5531T>C
  • NM_001407596.1:c.5531T>C
  • NM_001407597.1:c.5531T>C
  • NM_001407598.1:c.5531T>C
  • NM_001407602.1:c.5531T>C
  • NM_001407603.1:c.5531T>C
  • NM_001407605.1:c.5531T>C
  • NM_001407610.1:c.5528T>C
  • NM_001407611.1:c.5528T>C
  • NM_001407612.1:c.5528T>C
  • NM_001407613.1:c.5528T>C
  • NM_001407614.1:c.5528T>C
  • NM_001407615.1:c.5528T>C
  • NM_001407616.1:c.5528T>C
  • NM_001407617.1:c.5528T>C
  • NM_001407618.1:c.5528T>C
  • NM_001407619.1:c.5528T>C
  • NM_001407620.1:c.5528T>C
  • NM_001407621.1:c.5528T>C
  • NM_001407622.1:c.5528T>C
  • NM_001407623.1:c.5528T>C
  • NM_001407624.1:c.5528T>C
  • NM_001407625.1:c.5528T>C
  • NM_001407626.1:c.5528T>C
  • NM_001407627.1:c.5525T>C
  • NM_001407628.1:c.5525T>C
  • NM_001407629.1:c.5525T>C
  • NM_001407630.1:c.5525T>C
  • NM_001407631.1:c.5525T>C
  • NM_001407632.1:c.5525T>C
  • NM_001407633.1:c.5525T>C
  • NM_001407634.1:c.5525T>C
  • NM_001407635.1:c.5525T>C
  • NM_001407636.1:c.5525T>C
  • NM_001407637.1:c.5525T>C
  • NM_001407638.1:c.5525T>C
  • NM_001407639.1:c.5525T>C
  • NM_001407640.1:c.5525T>C
  • NM_001407641.1:c.5525T>C
  • NM_001407642.1:c.5525T>C
  • NM_001407644.1:c.5522T>C
  • NM_001407645.1:c.5522T>C
  • NM_001407646.1:c.5519T>C
  • NM_001407647.1:c.5516T>C
  • NM_001407648.1:c.5474T>C
  • NM_001407649.1:c.5471T>C
  • NM_001407652.1:c.5453T>C
  • NM_001407653.1:c.5453T>C
  • NM_001407654.1:c.5453T>C
  • NM_001407655.1:c.5453T>C
  • NM_001407656.1:c.5450T>C
  • NM_001407657.1:c.5450T>C
  • NM_001407658.1:c.5450T>C
  • NM_001407659.1:c.5447T>C
  • NM_001407660.1:c.5447T>C
  • NM_001407661.1:c.5447T>C
  • NM_001407662.1:c.5447T>C
  • NM_001407663.1:c.5447T>C
  • NM_001407664.1:c.5408T>C
  • NM_001407665.1:c.5408T>C
  • NM_001407666.1:c.5408T>C
  • NM_001407667.1:c.5408T>C
  • NM_001407668.1:c.5408T>C
  • NM_001407669.1:c.5408T>C
  • NM_001407670.1:c.5405T>C
  • NM_001407671.1:c.5405T>C
  • NM_001407672.1:c.5405T>C
  • NM_001407673.1:c.5405T>C
  • NM_001407674.1:c.5405T>C
  • NM_001407675.1:c.5405T>C
  • NM_001407676.1:c.5405T>C
  • NM_001407677.1:c.5405T>C
  • NM_001407678.1:c.5405T>C
  • NM_001407679.1:c.5405T>C
  • NM_001407680.1:c.5405T>C
  • NM_001407681.1:c.5402T>C
  • NM_001407682.1:c.5402T>C
  • NM_001407683.1:c.5402T>C
  • NM_001407684.1:c.5402T>C
  • NM_001407685.1:c.5402T>C
  • NM_001407686.1:c.5402T>C
  • NM_001407687.1:c.5402T>C
  • NM_001407688.1:c.5402T>C
  • NM_001407689.1:c.5402T>C
  • NM_001407690.1:c.5399T>C
  • NM_001407691.1:c.5399T>C
  • NM_001407692.1:c.5390T>C
  • NM_001407694.1:c.5390T>C
  • NM_001407695.1:c.5390T>C
  • NM_001407696.1:c.5390T>C
  • NM_001407697.1:c.5390T>C
  • NM_001407698.1:c.5390T>C
  • NM_001407724.1:c.5390T>C
  • NM_001407725.1:c.5390T>C
  • NM_001407726.1:c.5390T>C
  • NM_001407727.1:c.5390T>C
  • NM_001407728.1:c.5390T>C
  • NM_001407729.1:c.5390T>C
  • NM_001407730.1:c.5390T>C
  • NM_001407731.1:c.5390T>C
  • NM_001407732.1:c.5387T>C
  • NM_001407733.1:c.5387T>C
  • NM_001407734.1:c.5387T>C
  • NM_001407735.1:c.5387T>C
  • NM_001407736.1:c.5387T>C
  • NM_001407737.1:c.5387T>C
  • NM_001407738.1:c.5387T>C
  • NM_001407739.1:c.5387T>C
  • NM_001407740.1:c.5387T>C
  • NM_001407741.1:c.5387T>C
  • NM_001407742.1:c.5387T>C
  • NM_001407743.1:c.5387T>C
  • NM_001407744.1:c.5387T>C
  • NM_001407745.1:c.5387T>C
  • NM_001407746.1:c.5387T>C
  • NM_001407747.1:c.5387T>C
  • NM_001407748.1:c.5387T>C
  • NM_001407749.1:c.5387T>C
  • NM_001407750.1:c.5387T>C
  • NM_001407751.1:c.5387T>C
  • NM_001407752.1:c.5387T>C
  • NM_001407838.1:c.5384T>C
  • NM_001407839.1:c.5384T>C
  • NM_001407841.1:c.5384T>C
  • NM_001407842.1:c.5384T>C
  • NM_001407843.1:c.5384T>C
  • NM_001407844.1:c.5384T>C
  • NM_001407845.1:c.5384T>C
  • NM_001407846.1:c.5384T>C
  • NM_001407847.1:c.5384T>C
  • NM_001407848.1:c.5384T>C
  • NM_001407849.1:c.5384T>C
  • NM_001407850.1:c.5384T>C
  • NM_001407851.1:c.5384T>C
  • NM_001407852.1:c.5384T>C
  • NM_001407853.1:c.5384T>C
  • NM_001407854.1:c.*45T>C
  • NM_001407858.1:c.*45T>C
  • NM_001407859.1:c.*45T>C
  • NM_001407860.1:c.*45T>C
  • NM_001407861.1:c.*45T>C
  • NM_001407862.1:c.5330T>C
  • NM_001407863.1:c.5327T>C
  • NM_001407874.1:c.5324T>C
  • NM_001407875.1:c.5324T>C
  • NM_001407879.1:c.5321T>C
  • NM_001407881.1:c.5321T>C
  • NM_001407882.1:c.5321T>C
  • NM_001407884.1:c.5321T>C
  • NM_001407885.1:c.5321T>C
  • NM_001407886.1:c.5321T>C
  • NM_001407887.1:c.5321T>C
  • NM_001407889.1:c.5321T>C
  • NM_001407894.1:c.5318T>C
  • NM_001407895.1:c.5318T>C
  • NM_001407896.1:c.5318T>C
  • NM_001407897.1:c.5318T>C
  • NM_001407898.1:c.5318T>C
  • NM_001407899.1:c.5318T>C
  • NM_001407900.1:c.5318T>C
  • NM_001407902.1:c.5318T>C
  • NM_001407904.1:c.5318T>C
  • NM_001407906.1:c.5318T>C
  • NM_001407907.1:c.5318T>C
  • NM_001407908.1:c.5318T>C
  • NM_001407909.1:c.5318T>C
  • NM_001407910.1:c.5318T>C
  • NM_001407915.1:c.5315T>C
  • NM_001407916.1:c.5315T>C
  • NM_001407917.1:c.5315T>C
  • NM_001407918.1:c.5315T>C
  • NM_001407919.1:c.5279T>C
  • NM_001407920.1:c.5267T>C
  • NM_001407921.1:c.5267T>C
  • NM_001407922.1:c.5267T>C
  • NM_001407923.1:c.5267T>C
  • NM_001407924.1:c.5267T>C
  • NM_001407925.1:c.5267T>C
  • NM_001407926.1:c.5267T>C
  • NM_001407927.1:c.5264T>C
  • NM_001407928.1:c.5264T>C
  • NM_001407929.1:c.5264T>C
  • NM_001407930.1:c.5264T>C
  • NM_001407931.1:c.5264T>C
  • NM_001407932.1:c.5264T>C
  • NM_001407933.1:c.5264T>C
  • NM_001407934.1:c.5261T>C
  • NM_001407935.1:c.5261T>C
  • NM_001407936.1:c.5261T>C
  • NM_001407937.1:c.*45T>C
  • NM_001407938.1:c.*45T>C
  • NM_001407939.1:c.*45T>C
  • NM_001407940.1:c.*45T>C
  • NM_001407941.1:c.*45T>C
  • NM_001407942.1:c.*45T>C
  • NM_001407943.1:c.*45T>C
  • NM_001407944.1:c.*45T>C
  • NM_001407945.1:c.*45T>C
  • NM_001407946.1:c.5198T>C
  • NM_001407947.1:c.5198T>C
  • NM_001407948.1:c.5198T>C
  • NM_001407949.1:c.5198T>C
  • NM_001407950.1:c.5195T>C
  • NM_001407951.1:c.5195T>C
  • NM_001407952.1:c.5195T>C
  • NM_001407953.1:c.5195T>C
  • NM_001407954.1:c.5195T>C
  • NM_001407955.1:c.5195T>C
  • NM_001407956.1:c.5192T>C
  • NM_001407957.1:c.5192T>C
  • NM_001407958.1:c.5192T>C
  • NM_001407959.1:c.5150T>C
  • NM_001407960.1:c.5147T>C
  • NM_001407962.1:c.5147T>C
  • NM_001407963.1:c.5144T>C
  • NM_001407964.1:c.5069T>C
  • NM_001407965.1:c.5024T>C
  • NM_001407966.1:c.4643T>C
  • NM_001407967.1:c.4640T>C
  • NM_001407968.1:c.2927T>C
  • NM_001407969.1:c.2924T>C
  • NM_001407970.1:c.2288T>C
  • NM_001407971.1:c.2288T>C
  • NM_001407972.1:c.2285T>C
  • NM_001407973.1:c.2222T>C
  • NM_001407974.1:c.2222T>C
  • NM_001407975.1:c.2222T>C
  • NM_001407976.1:c.2222T>C
  • NM_001407977.1:c.2222T>C
  • NM_001407978.1:c.2222T>C
  • NM_001407979.1:c.2219T>C
  • NM_001407980.1:c.2219T>C
  • NM_001407981.1:c.2219T>C
  • NM_001407982.1:c.2219T>C
  • NM_001407983.1:c.2219T>C
  • NM_001407984.1:c.2219T>C
  • NM_001407985.1:c.2219T>C
  • NM_001407986.1:c.2219T>C
  • NM_001407990.1:c.2219T>C
  • NM_001407991.1:c.2219T>C
  • NM_001407992.1:c.2219T>C
  • NM_001407993.1:c.2219T>C
  • NM_001408392.1:c.2216T>C
  • NM_001408396.1:c.2216T>C
  • NM_001408397.1:c.2216T>C
  • NM_001408398.1:c.2216T>C
  • NM_001408399.1:c.2216T>C
  • NM_001408400.1:c.2216T>C
  • NM_001408401.1:c.2216T>C
  • NM_001408402.1:c.2216T>C
  • NM_001408403.1:c.2216T>C
  • NM_001408404.1:c.2216T>C
  • NM_001408406.1:c.2213T>C
  • NM_001408407.1:c.2213T>C
  • NM_001408408.1:c.2213T>C
  • NM_001408409.1:c.2210T>C
  • NM_001408410.1:c.2147T>C
  • NM_001408411.1:c.2144T>C
  • NM_001408412.1:c.2141T>C
  • NM_001408413.1:c.2141T>C
  • NM_001408414.1:c.2141T>C
  • NM_001408415.1:c.2141T>C
  • NM_001408416.1:c.2141T>C
  • NM_001408418.1:c.2105T>C
  • NM_001408419.1:c.2105T>C
  • NM_001408420.1:c.2105T>C
  • NM_001408421.1:c.2102T>C
  • NM_001408422.1:c.2102T>C
  • NM_001408423.1:c.2102T>C
  • NM_001408424.1:c.2102T>C
  • NM_001408425.1:c.2099T>C
  • NM_001408426.1:c.2099T>C
  • NM_001408427.1:c.2099T>C
  • NM_001408428.1:c.2099T>C
  • NM_001408429.1:c.2099T>C
  • NM_001408430.1:c.2099T>C
  • NM_001408431.1:c.2099T>C
  • NM_001408432.1:c.2096T>C
  • NM_001408433.1:c.2096T>C
  • NM_001408434.1:c.2096T>C
  • NM_001408435.1:c.2096T>C
  • NM_001408436.1:c.2096T>C
  • NM_001408437.1:c.2096T>C
  • NM_001408438.1:c.2096T>C
  • NM_001408439.1:c.2096T>C
  • NM_001408440.1:c.2096T>C
  • NM_001408441.1:c.2096T>C
  • NM_001408442.1:c.2096T>C
  • NM_001408443.1:c.2096T>C
  • NM_001408444.1:c.2096T>C
  • NM_001408445.1:c.2093T>C
  • NM_001408446.1:c.2093T>C
  • NM_001408447.1:c.2093T>C
  • NM_001408448.1:c.2093T>C
  • NM_001408450.1:c.2093T>C
  • NM_001408451.1:c.2087T>C
  • NM_001408452.1:c.2081T>C
  • NM_001408453.1:c.2081T>C
  • NM_001408454.1:c.2081T>C
  • NM_001408455.1:c.2081T>C
  • NM_001408456.1:c.2081T>C
  • NM_001408457.1:c.2081T>C
  • NM_001408458.1:c.2078T>C
  • NM_001408459.1:c.2078T>C
  • NM_001408460.1:c.2078T>C
  • NM_001408461.1:c.2078T>C
  • NM_001408462.1:c.2078T>C
  • NM_001408463.1:c.2078T>C
  • NM_001408464.1:c.2078T>C
  • NM_001408465.1:c.2078T>C
  • NM_001408466.1:c.2078T>C
  • NM_001408467.1:c.2078T>C
  • NM_001408468.1:c.2075T>C
  • NM_001408469.1:c.2075T>C
  • NM_001408470.1:c.2075T>C
  • NM_001408472.1:c.*45T>C
  • NM_001408473.1:c.*45T>C
  • NM_001408474.1:c.2021T>C
  • NM_001408475.1:c.2018T>C
  • NM_001408476.1:c.2018T>C
  • NM_001408478.1:c.2012T>C
  • NM_001408479.1:c.2012T>C
  • NM_001408480.1:c.2012T>C
  • NM_001408481.1:c.2009T>C
  • NM_001408482.1:c.2009T>C
  • NM_001408483.1:c.2009T>C
  • NM_001408484.1:c.2009T>C
  • NM_001408485.1:c.2009T>C
  • NM_001408489.1:c.2009T>C
  • NM_001408490.1:c.2009T>C
  • NM_001408491.1:c.2009T>C
  • NM_001408492.1:c.2006T>C
  • NM_001408493.1:c.2006T>C
  • NM_001408494.1:c.1982T>C
  • NM_001408495.1:c.1976T>C
  • NM_001408496.1:c.1958T>C
  • NM_001408497.1:c.1958T>C
  • NM_001408498.1:c.1958T>C
  • NM_001408499.1:c.1958T>C
  • NM_001408500.1:c.1958T>C
  • NM_001408501.1:c.1958T>C
  • NM_001408502.1:c.1955T>C
  • NM_001408503.1:c.1955T>C
  • NM_001408504.1:c.1955T>C
  • NM_001408505.1:c.1952T>C
  • NM_001408506.1:c.1895T>C
  • NM_001408507.1:c.1892T>C
  • NM_001408508.1:c.1883T>C
  • NM_001408509.1:c.1880T>C
  • NM_001408510.1:c.1841T>C
  • NM_001408511.1:c.1838T>C
  • NM_001408512.1:c.1718T>C
  • NM_001408513.1:c.1691T>C
  • NM_001408514.1:c.1295T>C
  • NM_007294.4:c.5531T>CMANE SELECT
  • NM_007297.4:c.5390T>C
  • NM_007298.4:c.2219T>C
  • NM_007299.4:c.*45T>C
  • NM_007300.4:c.5594T>C
  • NM_007304.2:c.2219T>C
  • NP_001394500.1:p.Leu1773Pro
  • NP_001394510.1:p.Leu1866Pro
  • NP_001394511.1:p.Leu1866Pro
  • NP_001394512.1:p.Leu1865Pro
  • NP_001394514.1:p.Leu1865Pro
  • NP_001394516.1:p.Leu1865Pro
  • NP_001394519.1:p.Leu1864Pro
  • NP_001394520.1:p.Leu1864Pro
  • NP_001394522.1:p.Leu1844Pro
  • NP_001394523.1:p.Leu1844Pro
  • NP_001394525.1:p.Leu1844Pro
  • NP_001394526.1:p.Leu1844Pro
  • NP_001394527.1:p.Leu1844Pro
  • NP_001394531.1:p.Leu1844Pro
  • NP_001394532.1:p.Leu1844Pro
  • NP_001394534.1:p.Leu1844Pro
  • NP_001394539.1:p.Leu1843Pro
  • NP_001394540.1:p.Leu1843Pro
  • NP_001394541.1:p.Leu1843Pro
  • NP_001394542.1:p.Leu1843Pro
  • NP_001394543.1:p.Leu1843Pro
  • NP_001394544.1:p.Leu1843Pro
  • NP_001394545.1:p.Leu1843Pro
  • NP_001394546.1:p.Leu1843Pro
  • NP_001394547.1:p.Leu1843Pro
  • NP_001394548.1:p.Leu1843Pro
  • NP_001394549.1:p.Leu1843Pro
  • NP_001394550.1:p.Leu1843Pro
  • NP_001394551.1:p.Leu1843Pro
  • NP_001394552.1:p.Leu1843Pro
  • NP_001394553.1:p.Leu1843Pro
  • NP_001394554.1:p.Leu1843Pro
  • NP_001394555.1:p.Leu1843Pro
  • NP_001394556.1:p.Leu1842Pro
  • NP_001394557.1:p.Leu1842Pro
  • NP_001394558.1:p.Leu1842Pro
  • NP_001394559.1:p.Leu1842Pro
  • NP_001394560.1:p.Leu1842Pro
  • NP_001394561.1:p.Leu1842Pro
  • NP_001394562.1:p.Leu1842Pro
  • NP_001394563.1:p.Leu1842Pro
  • NP_001394564.1:p.Leu1842Pro
  • NP_001394565.1:p.Leu1842Pro
  • NP_001394566.1:p.Leu1842Pro
  • NP_001394567.1:p.Leu1842Pro
  • NP_001394568.1:p.Leu1842Pro
  • NP_001394569.1:p.Leu1842Pro
  • NP_001394570.1:p.Leu1842Pro
  • NP_001394571.1:p.Leu1842Pro
  • NP_001394573.1:p.Leu1841Pro
  • NP_001394574.1:p.Leu1841Pro
  • NP_001394575.1:p.Leu1840Pro
  • NP_001394576.1:p.Leu1839Pro
  • NP_001394577.1:p.Leu1825Pro
  • NP_001394578.1:p.Leu1824Pro
  • NP_001394581.1:p.Leu1818Pro
  • NP_001394582.1:p.Leu1818Pro
  • NP_001394583.1:p.Leu1818Pro
  • NP_001394584.1:p.Leu1818Pro
  • NP_001394585.1:p.Leu1817Pro
  • NP_001394586.1:p.Leu1817Pro
  • NP_001394587.1:p.Leu1817Pro
  • NP_001394588.1:p.Leu1816Pro
  • NP_001394589.1:p.Leu1816Pro
  • NP_001394590.1:p.Leu1816Pro
  • NP_001394591.1:p.Leu1816Pro
  • NP_001394592.1:p.Leu1816Pro
  • NP_001394593.1:p.Leu1803Pro
  • NP_001394594.1:p.Leu1803Pro
  • NP_001394595.1:p.Leu1803Pro
  • NP_001394596.1:p.Leu1803Pro
  • NP_001394597.1:p.Leu1803Pro
  • NP_001394598.1:p.Leu1803Pro
  • NP_001394599.1:p.Leu1802Pro
  • NP_001394600.1:p.Leu1802Pro
  • NP_001394601.1:p.Leu1802Pro
  • NP_001394602.1:p.Leu1802Pro
  • NP_001394603.1:p.Leu1802Pro
  • NP_001394604.1:p.Leu1802Pro
  • NP_001394605.1:p.Leu1802Pro
  • NP_001394606.1:p.Leu1802Pro
  • NP_001394607.1:p.Leu1802Pro
  • NP_001394608.1:p.Leu1802Pro
  • NP_001394609.1:p.Leu1802Pro
  • NP_001394610.1:p.Leu1801Pro
  • NP_001394611.1:p.Leu1801Pro
  • NP_001394612.1:p.Leu1801Pro
  • NP_001394613.1:p.Leu1801Pro
  • NP_001394614.1:p.Leu1801Pro
  • NP_001394615.1:p.Leu1801Pro
  • NP_001394616.1:p.Leu1801Pro
  • NP_001394617.1:p.Leu1801Pro
  • NP_001394618.1:p.Leu1801Pro
  • NP_001394619.1:p.Leu1800Pro
  • NP_001394620.1:p.Leu1800Pro
  • NP_001394621.1:p.Leu1797Pro
  • NP_001394623.1:p.Leu1797Pro
  • NP_001394624.1:p.Leu1797Pro
  • NP_001394625.1:p.Leu1797Pro
  • NP_001394626.1:p.Leu1797Pro
  • NP_001394627.1:p.Leu1797Pro
  • NP_001394653.1:p.Leu1797Pro
  • NP_001394654.1:p.Leu1797Pro
  • NP_001394655.1:p.Leu1797Pro
  • NP_001394656.1:p.Leu1797Pro
  • NP_001394657.1:p.Leu1797Pro
  • NP_001394658.1:p.Leu1797Pro
  • NP_001394659.1:p.Leu1797Pro
  • NP_001394660.1:p.Leu1797Pro
  • NP_001394661.1:p.Leu1796Pro
  • NP_001394662.1:p.Leu1796Pro
  • NP_001394663.1:p.Leu1796Pro
  • NP_001394664.1:p.Leu1796Pro
  • NP_001394665.1:p.Leu1796Pro
  • NP_001394666.1:p.Leu1796Pro
  • NP_001394667.1:p.Leu1796Pro
  • NP_001394668.1:p.Leu1796Pro
  • NP_001394669.1:p.Leu1796Pro
  • NP_001394670.1:p.Leu1796Pro
  • NP_001394671.1:p.Leu1796Pro
  • NP_001394672.1:p.Leu1796Pro
  • NP_001394673.1:p.Leu1796Pro
  • NP_001394674.1:p.Leu1796Pro
  • NP_001394675.1:p.Leu1796Pro
  • NP_001394676.1:p.Leu1796Pro
  • NP_001394677.1:p.Leu1796Pro
  • NP_001394678.1:p.Leu1796Pro
  • NP_001394679.1:p.Leu1796Pro
  • NP_001394680.1:p.Leu1796Pro
  • NP_001394681.1:p.Leu1796Pro
  • NP_001394767.1:p.Leu1795Pro
  • NP_001394768.1:p.Leu1795Pro
  • NP_001394770.1:p.Leu1795Pro
  • NP_001394771.1:p.Leu1795Pro
  • NP_001394772.1:p.Leu1795Pro
  • NP_001394773.1:p.Leu1795Pro
  • NP_001394774.1:p.Leu1795Pro
  • NP_001394775.1:p.Leu1795Pro
  • NP_001394776.1:p.Leu1795Pro
  • NP_001394777.1:p.Leu1795Pro
  • NP_001394778.1:p.Leu1795Pro
  • NP_001394779.1:p.Leu1795Pro
  • NP_001394780.1:p.Leu1795Pro
  • NP_001394781.1:p.Leu1795Pro
  • NP_001394782.1:p.Leu1795Pro
  • NP_001394791.1:p.Leu1777Pro
  • NP_001394792.1:p.Leu1776Pro
  • NP_001394803.1:p.Leu1775Pro
  • NP_001394804.1:p.Leu1775Pro
  • NP_001394808.1:p.Leu1774Pro
  • NP_001394810.1:p.Leu1774Pro
  • NP_001394811.1:p.Leu1774Pro
  • NP_001394813.1:p.Leu1774Pro
  • NP_001394814.1:p.Leu1774Pro
  • NP_001394815.1:p.Leu1774Pro
  • NP_001394816.1:p.Leu1774Pro
  • NP_001394818.1:p.Leu1774Pro
  • NP_001394823.1:p.Leu1773Pro
  • NP_001394824.1:p.Leu1773Pro
  • NP_001394825.1:p.Leu1773Pro
  • NP_001394826.1:p.Leu1773Pro
  • NP_001394827.1:p.Leu1773Pro
  • NP_001394828.1:p.Leu1773Pro
  • NP_001394829.1:p.Leu1773Pro
  • NP_001394831.1:p.Leu1773Pro
  • NP_001394833.1:p.Leu1773Pro
  • NP_001394835.1:p.Leu1773Pro
  • NP_001394836.1:p.Leu1773Pro
  • NP_001394837.1:p.Leu1773Pro
  • NP_001394838.1:p.Leu1773Pro
  • NP_001394839.1:p.Leu1773Pro
  • NP_001394844.1:p.Leu1772Pro
  • NP_001394845.1:p.Leu1772Pro
  • NP_001394846.1:p.Leu1772Pro
  • NP_001394847.1:p.Leu1772Pro
  • NP_001394848.1:p.Leu1760Pro
  • NP_001394849.1:p.Leu1756Pro
  • NP_001394850.1:p.Leu1756Pro
  • NP_001394851.1:p.Leu1756Pro
  • NP_001394852.1:p.Leu1756Pro
  • NP_001394853.1:p.Leu1756Pro
  • NP_001394854.1:p.Leu1756Pro
  • NP_001394855.1:p.Leu1756Pro
  • NP_001394856.1:p.Leu1755Pro
  • NP_001394857.1:p.Leu1755Pro
  • NP_001394858.1:p.Leu1755Pro
  • NP_001394859.1:p.Leu1755Pro
  • NP_001394860.1:p.Leu1755Pro
  • NP_001394861.1:p.Leu1755Pro
  • NP_001394862.1:p.Leu1755Pro
  • NP_001394863.1:p.Leu1754Pro
  • NP_001394864.1:p.Leu1754Pro
  • NP_001394865.1:p.Leu1754Pro
  • NP_001394875.1:p.Leu1733Pro
  • NP_001394876.1:p.Leu1733Pro
  • NP_001394877.1:p.Leu1733Pro
  • NP_001394878.1:p.Leu1733Pro
  • NP_001394879.1:p.Leu1732Pro
  • NP_001394880.1:p.Leu1732Pro
  • NP_001394881.1:p.Leu1732Pro
  • NP_001394882.1:p.Leu1732Pro
  • NP_001394883.1:p.Leu1732Pro
  • NP_001394884.1:p.Leu1732Pro
  • NP_001394885.1:p.Leu1731Pro
  • NP_001394886.1:p.Leu1731Pro
  • NP_001394887.1:p.Leu1731Pro
  • NP_001394888.1:p.Leu1717Pro
  • NP_001394889.1:p.Leu1716Pro
  • NP_001394891.1:p.Leu1716Pro
  • NP_001394892.1:p.Leu1715Pro
  • NP_001394893.1:p.Leu1690Pro
  • NP_001394894.1:p.Leu1675Pro
  • NP_001394895.1:p.Leu1548Pro
  • NP_001394896.1:p.Leu1547Pro
  • NP_001394897.1:p.Leu976Pro
  • NP_001394898.1:p.Leu975Pro
  • NP_001394899.1:p.Leu763Pro
  • NP_001394900.1:p.Leu763Pro
  • NP_001394901.1:p.Leu762Pro
  • NP_001394902.1:p.Leu741Pro
  • NP_001394903.1:p.Leu741Pro
  • NP_001394904.1:p.Leu741Pro
  • NP_001394905.1:p.Leu741Pro
  • NP_001394906.1:p.Leu741Pro
  • NP_001394907.1:p.Leu741Pro
  • NP_001394908.1:p.Leu740Pro
  • NP_001394909.1:p.Leu740Pro
  • NP_001394910.1:p.Leu740Pro
  • NP_001394911.1:p.Leu740Pro
  • NP_001394912.1:p.Leu740Pro
  • NP_001394913.1:p.Leu740Pro
  • NP_001394914.1:p.Leu740Pro
  • NP_001394915.1:p.Leu740Pro
  • NP_001394919.1:p.Leu740Pro
  • NP_001394920.1:p.Leu740Pro
  • NP_001394921.1:p.Leu740Pro
  • NP_001394922.1:p.Leu740Pro
  • NP_001395321.1:p.Leu739Pro
  • NP_001395325.1:p.Leu739Pro
  • NP_001395326.1:p.Leu739Pro
  • NP_001395327.1:p.Leu739Pro
  • NP_001395328.1:p.Leu739Pro
  • NP_001395329.1:p.Leu739Pro
  • NP_001395330.1:p.Leu739Pro
  • NP_001395331.1:p.Leu739Pro
  • NP_001395332.1:p.Leu739Pro
  • NP_001395333.1:p.Leu739Pro
  • NP_001395335.1:p.Leu738Pro
  • NP_001395336.1:p.Leu738Pro
  • NP_001395337.1:p.Leu738Pro
  • NP_001395338.1:p.Leu737Pro
  • NP_001395339.1:p.Leu716Pro
  • NP_001395340.1:p.Leu715Pro
  • NP_001395341.1:p.Leu714Pro
  • NP_001395342.1:p.Leu714Pro
  • NP_001395343.1:p.Leu714Pro
  • NP_001395344.1:p.Leu714Pro
  • NP_001395345.1:p.Leu714Pro
  • NP_001395347.1:p.Leu702Pro
  • NP_001395348.1:p.Leu702Pro
  • NP_001395349.1:p.Leu702Pro
  • NP_001395350.1:p.Leu701Pro
  • NP_001395351.1:p.Leu701Pro
  • NP_001395352.1:p.Leu701Pro
  • NP_001395353.1:p.Leu701Pro
  • NP_001395354.1:p.Leu700Pro
  • NP_001395355.1:p.Leu700Pro
  • NP_001395356.1:p.Leu700Pro
  • NP_001395357.1:p.Leu700Pro
  • NP_001395358.1:p.Leu700Pro
  • NP_001395359.1:p.Leu700Pro
  • NP_001395360.1:p.Leu700Pro
  • NP_001395361.1:p.Leu699Pro
  • NP_001395362.1:p.Leu699Pro
  • NP_001395363.1:p.Leu699Pro
  • NP_001395364.1:p.Leu699Pro
  • NP_001395365.1:p.Leu699Pro
  • NP_001395366.1:p.Leu699Pro
  • NP_001395367.1:p.Leu699Pro
  • NP_001395368.1:p.Leu699Pro
  • NP_001395369.1:p.Leu699Pro
  • NP_001395370.1:p.Leu699Pro
  • NP_001395371.1:p.Leu699Pro
  • NP_001395372.1:p.Leu699Pro
  • NP_001395373.1:p.Leu699Pro
  • NP_001395374.1:p.Leu698Pro
  • NP_001395375.1:p.Leu698Pro
  • NP_001395376.1:p.Leu698Pro
  • NP_001395377.1:p.Leu698Pro
  • NP_001395379.1:p.Leu698Pro
  • NP_001395380.1:p.Leu696Pro
  • NP_001395381.1:p.Leu694Pro
  • NP_001395382.1:p.Leu694Pro
  • NP_001395383.1:p.Leu694Pro
  • NP_001395384.1:p.Leu694Pro
  • NP_001395385.1:p.Leu694Pro
  • NP_001395386.1:p.Leu694Pro
  • NP_001395387.1:p.Leu693Pro
  • NP_001395388.1:p.Leu693Pro
  • NP_001395389.1:p.Leu693Pro
  • NP_001395390.1:p.Leu693Pro
  • NP_001395391.1:p.Leu693Pro
  • NP_001395392.1:p.Leu693Pro
  • NP_001395393.1:p.Leu693Pro
  • NP_001395394.1:p.Leu693Pro
  • NP_001395395.1:p.Leu693Pro
  • NP_001395396.1:p.Leu693Pro
  • NP_001395397.1:p.Leu692Pro
  • NP_001395398.1:p.Leu692Pro
  • NP_001395399.1:p.Leu692Pro
  • NP_001395403.1:p.Leu674Pro
  • NP_001395404.1:p.Leu673Pro
  • NP_001395405.1:p.Leu673Pro
  • NP_001395407.1:p.Leu671Pro
  • NP_001395408.1:p.Leu671Pro
  • NP_001395409.1:p.Leu671Pro
  • NP_001395410.1:p.Leu670Pro
  • NP_001395411.1:p.Leu670Pro
  • NP_001395412.1:p.Leu670Pro
  • NP_001395413.1:p.Leu670Pro
  • NP_001395414.1:p.Leu670Pro
  • NP_001395418.1:p.Leu670Pro
  • NP_001395419.1:p.Leu670Pro
  • NP_001395420.1:p.Leu670Pro
  • NP_001395421.1:p.Leu669Pro
  • NP_001395422.1:p.Leu669Pro
  • NP_001395423.1:p.Leu661Pro
  • NP_001395424.1:p.Leu659Pro
  • NP_001395425.1:p.Leu653Pro
  • NP_001395426.1:p.Leu653Pro
  • NP_001395427.1:p.Leu653Pro
  • NP_001395428.1:p.Leu653Pro
  • NP_001395429.1:p.Leu653Pro
  • NP_001395430.1:p.Leu653Pro
  • NP_001395431.1:p.Leu652Pro
  • NP_001395432.1:p.Leu652Pro
  • NP_001395433.1:p.Leu652Pro
  • NP_001395434.1:p.Leu651Pro
  • NP_001395435.1:p.Leu632Pro
  • NP_001395436.1:p.Leu631Pro
  • NP_001395437.1:p.Leu628Pro
  • NP_001395438.1:p.Leu627Pro
  • NP_001395439.1:p.Leu614Pro
  • NP_001395440.1:p.Leu613Pro
  • NP_001395441.1:p.Leu573Pro
  • NP_001395442.1:p.Leu564Pro
  • NP_001395443.1:p.Leu432Pro
  • NP_009225.1:p.Leu1844Pro
  • NP_009225.1:p.Leu1844Pro
  • NP_009228.2:p.Leu1797Pro
  • NP_009229.2:p.Leu740Pro
  • NP_009229.2:p.Leu740Pro
  • NP_009231.2:p.Leu1865Pro
  • NP_009235.2:p.Leu740Pro
  • LRG_292t1:c.5531T>C
  • LRG_292:g.172245T>C
  • LRG_292p1:p.Leu1844Pro
  • NC_000017.10:g.41197756A>G
  • NM_007294.3:c.5531T>C
  • NM_007298.3:c.2219T>C
  • NR_027676.2:n.5708T>C
Protein change:
L1547P
Links:
dbSNP: rs80357323
NCBI 1000 Genomes Browser:
rs80357323
Molecular consequence:
  • NM_007299.4:c.*45T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001407571.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5597T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5597T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5594T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5594T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5594T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5591T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5591T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5531T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5531T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5531T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5531T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5531T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5531T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5531T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5531T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5525T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5522T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5522T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5519T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5516T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5474T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5471T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5453T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5453T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5453T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5453T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5450T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5450T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5450T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5447T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5447T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5447T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5447T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5447T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5408T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5408T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5408T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5408T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5408T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5408T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5405T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5405T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5405T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5405T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5405T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5405T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5405T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5405T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5405T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5405T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5405T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5402T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5402T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5402T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5402T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5402T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5402T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5402T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5402T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5402T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5330T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5327T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5324T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5324T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5321T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5321T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5321T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5321T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5321T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5321T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5321T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5321T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5315T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5315T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5315T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5315T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.5267T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.5267T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.5267T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.5267T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.5267T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.5267T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.5267T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.5264T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.5264T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.5264T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.5264T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.5264T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.5264T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.5264T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.5261T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.5261T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.5261T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.5198T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.5198T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.5198T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.5198T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.5195T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.5195T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.5195T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.5195T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.5195T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.5195T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.5192T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.5192T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.5192T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.5150T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.5147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.5147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.5024T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4643T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4640T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2927T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2924T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.2288T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.2288T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.2285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.2222T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.2222T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.2222T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.2222T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.2222T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.2222T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.2213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.2213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.2213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.2210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.2147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.2144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.2141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.2141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.2141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.2141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.2141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.2105T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.2105T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.2105T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.2102T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.2102T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.2102T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.2102T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.2099T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.2099T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.2099T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.2099T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.2099T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.2099T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.2099T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.2096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.2093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.2093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.2093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.2093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.2093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.2087T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.2081T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.2081T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.2081T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.2081T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.2081T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.2081T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.2075T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.2075T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.2075T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.2021T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.2018T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.2018T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.2012T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.2012T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.2012T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.2009T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.2009T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.2009T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.2009T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.2009T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.2009T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.2009T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.2009T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1982T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1976T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1958T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1958T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1958T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1958T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1958T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1958T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1955T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1955T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1955T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1952T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1841T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1838T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1718T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5531T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5390T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5594T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5708T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000567730GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 18, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000567730.4

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

Description

This variant is denoted BRCA1 c.5531T>C at the cDNA level, p.Leu1844Pro (L1844P) at the protein level, and results in the change of a Leucine to a Proline (CTC>CCC). Using alternate nomenclature, this variant would be defined as BRCA1 5650T>C. One functional study demonstrated reduced transcriptional activity compared to wild-type but significantly higher than that of mutant controls, leading the authors to classify BRCA1 Leu1844Pro as uncertain (Carvalho 2014). BRCA1 Leu1844Pro was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Leucine and Proline differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA1 Leu1844Pro occurs at a position that is not conserved and is located in the BRCT 2 domain (UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRCA1 Leu1844Pro is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Oct 8, 2024