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NM_007294.4(BRCA1):c.5531T>C (p.Leu1844Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Dec 12, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV001024239.8

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)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001186221Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 12, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV001735523Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 16, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

Carvalho RS, Abreu RB, Velkova A, Marsillac S, Rodarte RS, Suarez-Kurtz G, Iversen ES, Monteiro AN, Carvalho MA.

PLoS One. 2014;9(5):e97766. doi: 10.1371/journal.pone.0097766.

PubMed [citation]
PMID:
24845084
PMCID:
PMC4028255

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Woods NT, Baskin R, Golubeva V, Jhuraney A, De-Gregoriis G, Vaclova T, Goldgar DE, Couch FJ, Carvalho MA, Iversen ES, Monteiro AN.

NPJ Genom Med. 2016;1. doi:pii: 16001. 10.1038/npjgenmed.2016.1. Epub 2016 Mar 2.

PubMed [citation]
PMID:
28781887
PMCID:
PMC5539989
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV001186221.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

From Color Diagnostics, LLC DBA Color Health, SCV001735523.1

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

Description

This missense variant replaces leucine with proline at codon 1844 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have reported this variant has no impact on BRCA1 function in a homology-directed repair assay (PMID: 30257991), a human haploid cell proliferation assay (PMID: 30219179), a transcription activation assay in human HEK293T cells (PMID: 24845084, 28781887) and additional assays (PMID: 30257991). This variant has been observed in an individual affected with breast cancer and a suspected at-risk individual for breast and ovarian cancer (PMID: 31954625; Color internal data). This variant has been identified in 2/250824 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 8, 2024