ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.836A>T (p.His279Leu)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(1); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.836A>T (p.His279Leu)
Variation ID: 479199 Accession: VCV000479199.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094695 (GRCh38) [ NCBI UCSC ] 17: 41246712 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jan 1, 2018 May 1, 2024 Mar 23, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.836A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.His279Leu missense NM_001407571.1:c.623A>T NP_001394500.1:p.His208Leu missense NM_001407581.1:c.836A>T NP_001394510.1:p.His279Leu missense NM_001407582.1:c.836A>T NP_001394511.1:p.His279Leu missense NM_001407583.1:c.836A>T NP_001394512.1:p.His279Leu missense NM_001407585.1:c.836A>T NP_001394514.1:p.His279Leu missense NM_001407587.1:c.833A>T NP_001394516.1:p.His278Leu missense NM_001407590.1:c.833A>T NP_001394519.1:p.His278Leu missense NM_001407591.1:c.833A>T NP_001394520.1:p.His278Leu missense NM_001407593.1:c.836A>T NP_001394522.1:p.His279Leu missense NM_001407594.1:c.836A>T NP_001394523.1:p.His279Leu missense NM_001407596.1:c.836A>T NP_001394525.1:p.His279Leu missense NM_001407597.1:c.836A>T NP_001394526.1:p.His279Leu missense NM_001407598.1:c.836A>T NP_001394527.1:p.His279Leu missense NM_001407602.1:c.836A>T NP_001394531.1:p.His279Leu missense NM_001407603.1:c.836A>T NP_001394532.1:p.His279Leu missense NM_001407605.1:c.836A>T NP_001394534.1:p.His279Leu missense NM_001407610.1:c.833A>T NP_001394539.1:p.His278Leu missense NM_001407611.1:c.833A>T NP_001394540.1:p.His278Leu missense NM_001407612.1:c.833A>T NP_001394541.1:p.His278Leu missense NM_001407613.1:c.833A>T NP_001394542.1:p.His278Leu missense NM_001407614.1:c.833A>T NP_001394543.1:p.His278Leu missense NM_001407615.1:c.833A>T NP_001394544.1:p.His278Leu missense NM_001407616.1:c.836A>T NP_001394545.1:p.His279Leu missense NM_001407617.1:c.836A>T NP_001394546.1:p.His279Leu missense NM_001407618.1:c.836A>T NP_001394547.1:p.His279Leu missense NM_001407619.1:c.836A>T NP_001394548.1:p.His279Leu missense NM_001407620.1:c.836A>T NP_001394549.1:p.His279Leu missense NM_001407621.1:c.836A>T NP_001394550.1:p.His279Leu missense NM_001407622.1:c.836A>T NP_001394551.1:p.His279Leu missense NM_001407623.1:c.836A>T NP_001394552.1:p.His279Leu missense NM_001407624.1:c.836A>T NP_001394553.1:p.His279Leu missense NM_001407625.1:c.836A>T NP_001394554.1:p.His279Leu missense NM_001407626.1:c.836A>T NP_001394555.1:p.His279Leu missense NM_001407627.1:c.833A>T NP_001394556.1:p.His278Leu missense NM_001407628.1:c.833A>T NP_001394557.1:p.His278Leu missense NM_001407629.1:c.833A>T NP_001394558.1:p.His278Leu missense NM_001407630.1:c.833A>T NP_001394559.1:p.His278Leu missense NM_001407631.1:c.833A>T NP_001394560.1:p.His278Leu missense NM_001407632.1:c.833A>T NP_001394561.1:p.His278Leu missense NM_001407633.1:c.833A>T NP_001394562.1:p.His278Leu missense NM_001407634.1:c.833A>T NP_001394563.1:p.His278Leu missense NM_001407635.1:c.833A>T NP_001394564.1:p.His278Leu missense NM_001407636.1:c.833A>T NP_001394565.1:p.His278Leu missense NM_001407637.1:c.833A>T NP_001394566.1:p.His278Leu missense NM_001407638.1:c.833A>T NP_001394567.1:p.His278Leu missense NM_001407639.1:c.836A>T NP_001394568.1:p.His279Leu missense NM_001407640.1:c.836A>T NP_001394569.1:p.His279Leu missense NM_001407641.1:c.836A>T NP_001394570.1:p.His279Leu missense NM_001407642.1:c.836A>T NP_001394571.1:p.His279Leu missense NM_001407644.1:c.833A>T NP_001394573.1:p.His278Leu missense NM_001407645.1:c.833A>T NP_001394574.1:p.His278Leu missense NM_001407646.1:c.827A>T NP_001394575.1:p.His276Leu missense NM_001407647.1:c.827A>T NP_001394576.1:p.His276Leu missense NM_001407648.1:c.713A>T NP_001394577.1:p.His238Leu missense NM_001407649.1:c.710A>T NP_001394578.1:p.His237Leu missense NM_001407652.1:c.836A>T NP_001394581.1:p.His279Leu missense NM_001407653.1:c.758A>T NP_001394582.1:p.His253Leu missense NM_001407654.1:c.758A>T NP_001394583.1:p.His253Leu missense NM_001407655.1:c.758A>T NP_001394584.1:p.His253Leu missense NM_001407656.1:c.758A>T NP_001394585.1:p.His253Leu missense NM_001407657.1:c.758A>T NP_001394586.1:p.His253Leu missense NM_001407658.1:c.758A>T NP_001394587.1:p.His253Leu missense NM_001407659.1:c.755A>T NP_001394588.1:p.His252Leu missense NM_001407660.1:c.755A>T NP_001394589.1:p.His252Leu missense NM_001407661.1:c.755A>T NP_001394590.1:p.His252Leu missense NM_001407662.1:c.755A>T NP_001394591.1:p.His252Leu missense NM_001407663.1:c.758A>T NP_001394592.1:p.His253Leu missense NM_001407664.1:c.713A>T NP_001394593.1:p.His238Leu missense NM_001407665.1:c.713A>T NP_001394594.1:p.His238Leu missense NM_001407666.1:c.713A>T NP_001394595.1:p.His238Leu missense NM_001407667.1:c.713A>T NP_001394596.1:p.His238Leu missense NM_001407668.1:c.713A>T NP_001394597.1:p.His238Leu missense NM_001407669.1:c.713A>T NP_001394598.1:p.His238Leu missense NM_001407670.1:c.710A>T NP_001394599.1:p.His237Leu missense NM_001407671.1:c.710A>T NP_001394600.1:p.His237Leu missense NM_001407672.1:c.710A>T NP_001394601.1:p.His237Leu missense NM_001407673.1:c.710A>T NP_001394602.1:p.His237Leu missense NM_001407674.1:c.713A>T NP_001394603.1:p.His238Leu missense NM_001407675.1:c.713A>T NP_001394604.1:p.His238Leu missense NM_001407676.1:c.713A>T NP_001394605.1:p.His238Leu missense NM_001407677.1:c.713A>T NP_001394606.1:p.His238Leu missense NM_001407678.1:c.713A>T NP_001394607.1:p.His238Leu missense NM_001407679.1:c.713A>T NP_001394608.1:p.His238Leu missense NM_001407680.1:c.713A>T NP_001394609.1:p.His238Leu missense NM_001407681.1:c.713A>T NP_001394610.1:p.His238Leu missense NM_001407682.1:c.713A>T NP_001394611.1:p.His238Leu missense NM_001407683.1:c.713A>T NP_001394612.1:p.His238Leu missense NM_001407684.1:c.836A>T NP_001394613.1:p.His279Leu missense NM_001407685.1:c.710A>T NP_001394614.1:p.His237Leu missense NM_001407686.1:c.710A>T NP_001394615.1:p.His237Leu missense NM_001407687.1:c.710A>T NP_001394616.1:p.His237Leu missense NM_001407688.1:c.710A>T NP_001394617.1:p.His237Leu missense NM_001407689.1:c.710A>T NP_001394618.1:p.His237Leu missense NM_001407690.1:c.710A>T NP_001394619.1:p.His237Leu missense NM_001407691.1:c.710A>T NP_001394620.1:p.His237Leu missense NM_001407692.1:c.695A>T NP_001394621.1:p.His232Leu missense NM_001407694.1:c.695A>T NP_001394623.1:p.His232Leu missense NM_001407695.1:c.695A>T NP_001394624.1:p.His232Leu missense NM_001407696.1:c.695A>T NP_001394625.1:p.His232Leu missense NM_001407697.1:c.695A>T NP_001394626.1:p.His232Leu missense NM_001407698.1:c.695A>T NP_001394627.1:p.His232Leu missense NM_001407724.1:c.695A>T NP_001394653.1:p.His232Leu missense NM_001407725.1:c.695A>T NP_001394654.1:p.His232Leu missense NM_001407726.1:c.695A>T NP_001394655.1:p.His232Leu missense NM_001407727.1:c.695A>T NP_001394656.1:p.His232Leu missense NM_001407728.1:c.695A>T NP_001394657.1:p.His232Leu missense NM_001407729.1:c.695A>T NP_001394658.1:p.His232Leu missense NM_001407730.1:c.695A>T NP_001394659.1:p.His232Leu missense NM_001407731.1:c.695A>T NP_001394660.1:p.His232Leu missense NM_001407732.1:c.695A>T NP_001394661.1:p.His232Leu missense NM_001407733.1:c.695A>T NP_001394662.1:p.His232Leu missense NM_001407734.1:c.695A>T NP_001394663.1:p.His232Leu missense NM_001407735.1:c.695A>T NP_001394664.1:p.His232Leu missense NM_001407736.1:c.695A>T NP_001394665.1:p.His232Leu missense NM_001407737.1:c.695A>T NP_001394666.1:p.His232Leu missense NM_001407738.1:c.695A>T NP_001394667.1:p.His232Leu missense NM_001407739.1:c.695A>T NP_001394668.1:p.His232Leu missense NM_001407740.1:c.692A>T NP_001394669.1:p.His231Leu missense NM_001407741.1:c.692A>T NP_001394670.1:p.His231Leu missense NM_001407742.1:c.692A>T NP_001394671.1:p.His231Leu missense NM_001407743.1:c.692A>T NP_001394672.1:p.His231Leu missense NM_001407744.1:c.692A>T NP_001394673.1:p.His231Leu missense NM_001407745.1:c.692A>T NP_001394674.1:p.His231Leu missense NM_001407746.1:c.692A>T NP_001394675.1:p.His231Leu missense NM_001407747.1:c.692A>T NP_001394676.1:p.His231Leu missense NM_001407748.1:c.692A>T NP_001394677.1:p.His231Leu missense NM_001407749.1:c.692A>T NP_001394678.1:p.His231Leu missense NM_001407750.1:c.695A>T NP_001394679.1:p.His232Leu missense NM_001407751.1:c.695A>T NP_001394680.1:p.His232Leu missense NM_001407752.1:c.695A>T NP_001394681.1:p.His232Leu missense NM_001407838.1:c.692A>T NP_001394767.1:p.His231Leu missense NM_001407839.1:c.692A>T NP_001394768.1:p.His231Leu missense NM_001407841.1:c.692A>T NP_001394770.1:p.His231Leu missense NM_001407842.1:c.692A>T NP_001394771.1:p.His231Leu missense NM_001407843.1:c.692A>T NP_001394772.1:p.His231Leu missense NM_001407844.1:c.692A>T NP_001394773.1:p.His231Leu missense NM_001407845.1:c.692A>T NP_001394774.1:p.His231Leu missense NM_001407846.1:c.692A>T NP_001394775.1:p.His231Leu missense NM_001407847.1:c.692A>T NP_001394776.1:p.His231Leu missense NM_001407848.1:c.692A>T NP_001394777.1:p.His231Leu missense NM_001407849.1:c.692A>T NP_001394778.1:p.His231Leu missense NM_001407850.1:c.695A>T NP_001394779.1:p.His232Leu missense NM_001407851.1:c.695A>T NP_001394780.1:p.His232Leu missense NM_001407852.1:c.695A>T NP_001394781.1:p.His232Leu missense NM_001407853.1:c.623A>T NP_001394782.1:p.His208Leu missense NM_001407854.1:c.836A>T NP_001394783.1:p.His279Leu missense NM_001407858.1:c.836A>T NP_001394787.1:p.His279Leu missense NM_001407859.1:c.836A>T NP_001394788.1:p.His279Leu missense NM_001407860.1:c.833A>T NP_001394789.1:p.His278Leu missense NM_001407861.1:c.833A>T NP_001394790.1:p.His278Leu missense NM_001407862.1:c.635A>T NP_001394791.1:p.His212Leu missense NM_001407863.1:c.713A>T NP_001394792.1:p.His238Leu missense NM_001407874.1:c.632A>T NP_001394803.1:p.His211Leu missense NM_001407875.1:c.632A>T NP_001394804.1:p.His211Leu missense NM_001407879.1:c.626A>T NP_001394808.1:p.His209Leu missense NM_001407881.1:c.626A>T NP_001394810.1:p.His209Leu missense NM_001407882.1:c.626A>T NP_001394811.1:p.His209Leu missense NM_001407884.1:c.626A>T NP_001394813.1:p.His209Leu missense NM_001407885.1:c.626A>T NP_001394814.1:p.His209Leu missense NM_001407886.1:c.626A>T NP_001394815.1:p.His209Leu missense NM_001407887.1:c.626A>T NP_001394816.1:p.His209Leu missense NM_001407889.1:c.626A>T NP_001394818.1:p.His209Leu missense NM_001407894.1:c.623A>T NP_001394823.1:p.His208Leu missense NM_001407895.1:c.623A>T NP_001394824.1:p.His208Leu missense NM_001407896.1:c.623A>T NP_001394825.1:p.His208Leu missense NM_001407897.1:c.623A>T NP_001394826.1:p.His208Leu missense NM_001407898.1:c.623A>T NP_001394827.1:p.His208Leu missense NM_001407899.1:c.623A>T NP_001394828.1:p.His208Leu missense NM_001407900.1:c.626A>T NP_001394829.1:p.His209Leu missense NM_001407902.1:c.626A>T NP_001394831.1:p.His209Leu missense NM_001407904.1:c.626A>T NP_001394833.1:p.His209Leu missense NM_001407906.1:c.626A>T NP_001394835.1:p.His209Leu missense NM_001407907.1:c.626A>T NP_001394836.1:p.His209Leu missense NM_001407908.1:c.626A>T NP_001394837.1:p.His209Leu missense NM_001407909.1:c.626A>T NP_001394838.1:p.His209Leu missense NM_001407910.1:c.626A>T NP_001394839.1:p.His209Leu missense NM_001407915.1:c.623A>T NP_001394844.1:p.His208Leu missense NM_001407916.1:c.623A>T NP_001394845.1:p.His208Leu missense NM_001407917.1:c.623A>T NP_001394846.1:p.His208Leu missense NM_001407918.1:c.623A>T NP_001394847.1:p.His208Leu missense NM_001407919.1:c.713A>T NP_001394848.1:p.His238Leu missense NM_001407920.1:c.572A>T NP_001394849.1:p.His191Leu missense NM_001407921.1:c.572A>T NP_001394850.1:p.His191Leu missense NM_001407922.1:c.572A>T NP_001394851.1:p.His191Leu missense NM_001407923.1:c.572A>T NP_001394852.1:p.His191Leu missense NM_001407924.1:c.572A>T NP_001394853.1:p.His191Leu missense NM_001407925.1:c.572A>T NP_001394854.1:p.His191Leu missense NM_001407926.1:c.572A>T NP_001394855.1:p.His191Leu missense NM_001407927.1:c.572A>T NP_001394856.1:p.His191Leu missense NM_001407928.1:c.572A>T NP_001394857.1:p.His191Leu missense NM_001407929.1:c.572A>T NP_001394858.1:p.His191Leu missense NM_001407930.1:c.569A>T NP_001394859.1:p.His190Leu missense NM_001407931.1:c.569A>T NP_001394860.1:p.His190Leu missense NM_001407932.1:c.569A>T NP_001394861.1:p.His190Leu missense NM_001407933.1:c.572A>T NP_001394862.1:p.His191Leu missense NM_001407934.1:c.569A>T NP_001394863.1:p.His190Leu missense NM_001407935.1:c.572A>T NP_001394864.1:p.His191Leu missense NM_001407936.1:c.569A>T NP_001394865.1:p.His190Leu missense NM_001407937.1:c.713A>T NP_001394866.1:p.His238Leu missense NM_001407938.1:c.713A>T NP_001394867.1:p.His238Leu missense NM_001407939.1:c.713A>T NP_001394868.1:p.His238Leu missense NM_001407940.1:c.710A>T NP_001394869.1:p.His237Leu missense NM_001407941.1:c.710A>T NP_001394870.1:p.His237Leu missense NM_001407942.1:c.695A>T NP_001394871.1:p.His232Leu missense NM_001407943.1:c.692A>T NP_001394872.1:p.His231Leu missense NM_001407944.1:c.695A>T NP_001394873.1:p.His232Leu missense NM_001407945.1:c.695A>T NP_001394874.1:p.His232Leu missense NM_001407946.1:c.503A>T NP_001394875.1:p.His168Leu missense NM_001407947.1:c.503A>T NP_001394876.1:p.His168Leu missense NM_001407948.1:c.503A>T NP_001394877.1:p.His168Leu missense NM_001407949.1:c.503A>T NP_001394878.1:p.His168Leu missense NM_001407950.1:c.503A>T NP_001394879.1:p.His168Leu missense NM_001407951.1:c.503A>T NP_001394880.1:p.His168Leu missense NM_001407952.1:c.503A>T NP_001394881.1:p.His168Leu missense NM_001407953.1:c.503A>T NP_001394882.1:p.His168Leu missense NM_001407954.1:c.500A>T NP_001394883.1:p.His167Leu missense NM_001407955.1:c.500A>T NP_001394884.1:p.His167Leu missense NM_001407956.1:c.500A>T NP_001394885.1:p.His167Leu missense NM_001407957.1:c.503A>T NP_001394886.1:p.His168Leu missense NM_001407958.1:c.500A>T NP_001394887.1:p.His167Leu missense NM_001407959.1:c.455A>T NP_001394888.1:p.His152Leu missense NM_001407960.1:c.455A>T NP_001394889.1:p.His152Leu missense NM_001407962.1:c.452A>T NP_001394891.1:p.His151Leu missense NM_001407963.1:c.455A>T NP_001394892.1:p.His152Leu missense NM_001407964.1:c.692A>T NP_001394893.1:p.His231Leu missense NM_001407965.1:c.332A>T NP_001394894.1:p.His111Leu missense NM_001407966.1:c.-53A>T 5 prime UTR NM_001407967.1:c.-53A>T 5 prime UTR NM_001407968.1:c.787+49A>T intron variant NM_001407969.1:c.787+49A>T intron variant NM_001407970.1:c.787+49A>T intron variant NM_001407971.1:c.787+49A>T intron variant NM_001407972.1:c.784+49A>T intron variant NM_001407973.1:c.787+49A>T intron variant NM_001407974.1:c.787+49A>T intron variant NM_001407975.1:c.787+49A>T intron variant NM_001407976.1:c.787+49A>T intron variant NM_001407977.1:c.787+49A>T intron variant NM_001407978.1:c.787+49A>T intron variant NM_001407979.1:c.787+49A>T intron variant NM_001407980.1:c.787+49A>T intron variant NM_001407981.1:c.787+49A>T intron variant NM_001407982.1:c.787+49A>T intron variant NM_001407983.1:c.787+49A>T intron variant NM_001407984.1:c.784+49A>T intron variant NM_001407985.1:c.784+49A>T intron variant NM_001407986.1:c.784+49A>T intron variant NM_001407990.1:c.787+49A>T intron variant NM_001407991.1:c.784+49A>T intron variant NM_001407992.1:c.784+49A>T intron variant NM_001407993.1:c.787+49A>T intron variant NM_001408392.1:c.784+49A>T intron variant NM_001408396.1:c.784+49A>T intron variant NM_001408397.1:c.784+49A>T intron variant NM_001408398.1:c.784+49A>T intron variant NM_001408399.1:c.784+49A>T intron variant NM_001408400.1:c.784+49A>T intron variant NM_001408401.1:c.784+49A>T intron variant NM_001408402.1:c.784+49A>T intron variant NM_001408403.1:c.787+49A>T intron variant NM_001408404.1:c.787+49A>T intron variant NM_001408406.1:c.790+46A>T intron variant NM_001408407.1:c.784+49A>T intron variant NM_001408408.1:c.778+49A>T intron variant NM_001408409.1:c.709+49A>T intron variant NM_001408410.1:c.646+49A>T intron variant NM_001408411.1:c.709+49A>T intron variant NM_001408412.1:c.709+49A>T intron variant NM_001408413.1:c.706+49A>T intron variant NM_001408414.1:c.709+49A>T intron variant NM_001408415.1:c.709+49A>T intron variant NM_001408416.1:c.706+49A>T intron variant NM_001408418.1:c.670+1151A>T intron variant NM_001408419.1:c.670+1151A>T intron variant NM_001408420.1:c.670+1151A>T intron variant NM_001408421.1:c.667+1151A>T intron variant NM_001408422.1:c.670+1151A>T intron variant NM_001408423.1:c.670+1151A>T intron variant NM_001408424.1:c.667+1151A>T intron variant NM_001408425.1:c.664+49A>T intron variant NM_001408426.1:c.664+49A>T intron variant NM_001408427.1:c.664+49A>T intron variant NM_001408428.1:c.664+49A>T intron variant NM_001408429.1:c.664+49A>T intron variant NM_001408430.1:c.664+49A>T intron variant NM_001408431.1:c.667+1151A>T intron variant NM_001408432.1:c.661+49A>T intron variant NM_001408433.1:c.661+49A>T intron variant NM_001408434.1:c.661+49A>T intron variant NM_001408435.1:c.661+49A>T intron variant NM_001408436.1:c.664+49A>T intron variant NM_001408437.1:c.664+49A>T intron variant NM_001408438.1:c.664+49A>T intron variant NM_001408439.1:c.664+49A>T intron variant NM_001408440.1:c.664+49A>T intron variant NM_001408441.1:c.664+49A>T intron variant NM_001408442.1:c.664+49A>T intron variant NM_001408443.1:c.664+49A>T intron variant NM_001408444.1:c.664+49A>T intron variant NM_001408445.1:c.661+49A>T intron variant NM_001408446.1:c.661+49A>T intron variant NM_001408447.1:c.661+49A>T intron variant NM_001408448.1:c.661+49A>T intron variant NM_001408450.1:c.661+49A>T intron variant NM_001408451.1:c.652+49A>T intron variant NM_001408452.1:c.646+49A>T intron variant NM_001408453.1:c.646+49A>T intron variant NM_001408454.1:c.646+49A>T intron variant NM_001408455.1:c.646+49A>T intron variant NM_001408456.1:c.646+49A>T intron variant NM_001408457.1:c.646+49A>T intron variant NM_001408458.1:c.646+49A>T intron variant NM_001408459.1:c.646+49A>T intron variant NM_001408460.1:c.646+49A>T intron variant NM_001408461.1:c.646+49A>T intron variant NM_001408462.1:c.643+49A>T intron variant NM_001408463.1:c.643+49A>T intron variant NM_001408464.1:c.643+49A>T intron variant NM_001408465.1:c.643+49A>T intron variant NM_001408466.1:c.646+49A>T intron variant NM_001408467.1:c.646+49A>T intron variant NM_001408468.1:c.643+49A>T intron variant NM_001408469.1:c.646+49A>T intron variant NM_001408470.1:c.643+49A>T intron variant NM_001408472.1:c.787+49A>T intron variant NM_001408473.1:c.784+49A>T intron variant NM_001408474.1:c.586+49A>T intron variant NM_001408475.1:c.583+49A>T intron variant NM_001408476.1:c.586+49A>T intron variant NM_001408478.1:c.577+49A>T intron variant NM_001408479.1:c.577+49A>T intron variant NM_001408480.1:c.577+49A>T intron variant NM_001408481.1:c.577+49A>T intron variant NM_001408482.1:c.577+49A>T intron variant NM_001408483.1:c.577+49A>T intron variant NM_001408484.1:c.577+49A>T intron variant NM_001408485.1:c.577+49A>T intron variant NM_001408489.1:c.577+49A>T intron variant NM_001408490.1:c.574+49A>T intron variant NM_001408491.1:c.574+49A>T intron variant NM_001408492.1:c.577+49A>T intron variant NM_001408493.1:c.574+49A>T intron variant NM_001408494.1:c.548-3663A>T intron variant NM_001408495.1:c.545-3663A>T intron variant NM_001408496.1:c.523+49A>T intron variant NM_001408497.1:c.523+49A>T intron variant NM_001408498.1:c.523+49A>T intron variant NM_001408499.1:c.523+49A>T intron variant NM_001408500.1:c.523+49A>T intron variant NM_001408501.1:c.523+49A>T intron variant NM_001408502.1:c.454+49A>T intron variant NM_001408503.1:c.520+49A>T intron variant NM_001408504.1:c.520+49A>T intron variant NM_001408505.1:c.520+49A>T intron variant NM_001408506.1:c.460+1151A>T intron variant NM_001408507.1:c.460+1151A>T intron variant NM_001408508.1:c.451+49A>T intron variant NM_001408509.1:c.451+49A>T intron variant NM_001408510.1:c.406+49A>T intron variant NM_001408511.1:c.404-3663A>T intron variant NM_001408512.1:c.283+49A>T intron variant NM_001408513.1:c.577+49A>T intron variant NM_001408514.1:c.577+49A>T intron variant NM_007297.4:c.695A>T NP_009228.2:p.His232Leu missense NM_007298.4:c.787+49A>T intron variant NM_007299.4:c.787+49A>T intron variant NM_007300.4:c.836A>T NP_009231.2:p.His279Leu missense NR_027676.1:n.972A>T NC_000017.11:g.43094695T>A NC_000017.10:g.41246712T>A NG_005905.2:g.123289A>T LRG_292:g.123289A>T LRG_292t1:c.836A>T LRG_292p1:p.His279Leu - Protein change
- H279L, H232L, H167L, H191L, H278L, H208L, H211L, H231L, H190L, H111L, H151L, H168L, H209L, H237L, H238L, H253L, H152L, H212L, H252L, H276L
- Other names
- -
- Canonical SPDI
- NC_000017.11:43094694:T:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12876 | 14661 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Mar 23, 2023 | RCV000569463.7 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Likely benign
(Mar 23, 2023)
|
criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003847907.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
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Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
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Uncertain significance
(Jan 25, 2016)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000660992.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The p.H279L variant (also known as c.836A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide … (more)
The p.H279L variant (also known as c.836A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 836. The histidine at codon 279 is replaced by leucine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.0004% (greater than 225000 alleles tested) in our clinical cohort. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
Text-mined citations for rs80357482 ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.