ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1040T>A (p.Leu347Gln)
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(3); 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.1040T>A (p.Leu347Gln)
Variation ID: 441364 Accession: VCV000441364.11
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094491 (GRCh38) [ NCBI UCSC ] 17: 41246508 (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 Oct 23, 2017 May 1, 2024 Mar 23, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1040T>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu347Gln missense NM_001407571.1:c.827T>A NP_001394500.1:p.Leu276Gln missense NM_001407581.1:c.1040T>A NP_001394510.1:p.Leu347Gln missense NM_001407582.1:c.1040T>A NP_001394511.1:p.Leu347Gln missense NM_001407583.1:c.1040T>A NP_001394512.1:p.Leu347Gln missense NM_001407585.1:c.1040T>A NP_001394514.1:p.Leu347Gln missense NM_001407587.1:c.1037T>A NP_001394516.1:p.Leu346Gln missense NM_001407590.1:c.1037T>A NP_001394519.1:p.Leu346Gln missense NM_001407591.1:c.1037T>A NP_001394520.1:p.Leu346Gln missense NM_001407593.1:c.1040T>A NP_001394522.1:p.Leu347Gln missense NM_001407594.1:c.1040T>A NP_001394523.1:p.Leu347Gln missense NM_001407596.1:c.1040T>A NP_001394525.1:p.Leu347Gln missense NM_001407597.1:c.1040T>A NP_001394526.1:p.Leu347Gln missense NM_001407598.1:c.1040T>A NP_001394527.1:p.Leu347Gln missense NM_001407602.1:c.1040T>A NP_001394531.1:p.Leu347Gln missense NM_001407603.1:c.1040T>A NP_001394532.1:p.Leu347Gln missense NM_001407605.1:c.1040T>A NP_001394534.1:p.Leu347Gln missense NM_001407610.1:c.1037T>A NP_001394539.1:p.Leu346Gln missense NM_001407611.1:c.1037T>A NP_001394540.1:p.Leu346Gln missense NM_001407612.1:c.1037T>A NP_001394541.1:p.Leu346Gln missense NM_001407613.1:c.1037T>A NP_001394542.1:p.Leu346Gln missense NM_001407614.1:c.1037T>A NP_001394543.1:p.Leu346Gln missense NM_001407615.1:c.1037T>A NP_001394544.1:p.Leu346Gln missense NM_001407616.1:c.1040T>A NP_001394545.1:p.Leu347Gln missense NM_001407617.1:c.1040T>A NP_001394546.1:p.Leu347Gln missense NM_001407618.1:c.1040T>A NP_001394547.1:p.Leu347Gln missense NM_001407619.1:c.1040T>A NP_001394548.1:p.Leu347Gln missense NM_001407620.1:c.1040T>A NP_001394549.1:p.Leu347Gln missense NM_001407621.1:c.1040T>A NP_001394550.1:p.Leu347Gln missense NM_001407622.1:c.1040T>A NP_001394551.1:p.Leu347Gln missense NM_001407623.1:c.1040T>A NP_001394552.1:p.Leu347Gln missense NM_001407624.1:c.1040T>A NP_001394553.1:p.Leu347Gln missense NM_001407625.1:c.1040T>A NP_001394554.1:p.Leu347Gln missense NM_001407626.1:c.1040T>A NP_001394555.1:p.Leu347Gln missense NM_001407627.1:c.1037T>A NP_001394556.1:p.Leu346Gln missense NM_001407628.1:c.1037T>A NP_001394557.1:p.Leu346Gln missense NM_001407629.1:c.1037T>A NP_001394558.1:p.Leu346Gln missense NM_001407630.1:c.1037T>A NP_001394559.1:p.Leu346Gln missense NM_001407631.1:c.1037T>A NP_001394560.1:p.Leu346Gln missense NM_001407632.1:c.1037T>A NP_001394561.1:p.Leu346Gln missense NM_001407633.1:c.1037T>A NP_001394562.1:p.Leu346Gln missense NM_001407634.1:c.1037T>A NP_001394563.1:p.Leu346Gln missense NM_001407635.1:c.1037T>A NP_001394564.1:p.Leu346Gln missense NM_001407636.1:c.1037T>A NP_001394565.1:p.Leu346Gln missense NM_001407637.1:c.1037T>A NP_001394566.1:p.Leu346Gln missense NM_001407638.1:c.1037T>A NP_001394567.1:p.Leu346Gln missense NM_001407639.1:c.1040T>A NP_001394568.1:p.Leu347Gln missense NM_001407640.1:c.1040T>A NP_001394569.1:p.Leu347Gln missense NM_001407641.1:c.1040T>A NP_001394570.1:p.Leu347Gln missense NM_001407642.1:c.1040T>A NP_001394571.1:p.Leu347Gln missense NM_001407644.1:c.1037T>A NP_001394573.1:p.Leu346Gln missense NM_001407645.1:c.1037T>A NP_001394574.1:p.Leu346Gln missense NM_001407646.1:c.1031T>A NP_001394575.1:p.Leu344Gln missense NM_001407647.1:c.1031T>A NP_001394576.1:p.Leu344Gln missense NM_001407648.1:c.917T>A NP_001394577.1:p.Leu306Gln missense NM_001407649.1:c.914T>A NP_001394578.1:p.Leu305Gln missense NM_001407652.1:c.1040T>A NP_001394581.1:p.Leu347Gln missense NM_001407653.1:c.962T>A NP_001394582.1:p.Leu321Gln missense NM_001407654.1:c.962T>A NP_001394583.1:p.Leu321Gln missense NM_001407655.1:c.962T>A NP_001394584.1:p.Leu321Gln missense NM_001407656.1:c.962T>A NP_001394585.1:p.Leu321Gln missense NM_001407657.1:c.962T>A NP_001394586.1:p.Leu321Gln missense NM_001407658.1:c.962T>A NP_001394587.1:p.Leu321Gln missense NM_001407659.1:c.959T>A NP_001394588.1:p.Leu320Gln missense NM_001407660.1:c.959T>A NP_001394589.1:p.Leu320Gln missense NM_001407661.1:c.959T>A NP_001394590.1:p.Leu320Gln missense NM_001407662.1:c.959T>A NP_001394591.1:p.Leu320Gln missense NM_001407663.1:c.962T>A NP_001394592.1:p.Leu321Gln missense NM_001407664.1:c.917T>A NP_001394593.1:p.Leu306Gln missense NM_001407665.1:c.917T>A NP_001394594.1:p.Leu306Gln missense NM_001407666.1:c.917T>A NP_001394595.1:p.Leu306Gln missense NM_001407667.1:c.917T>A NP_001394596.1:p.Leu306Gln missense NM_001407668.1:c.917T>A NP_001394597.1:p.Leu306Gln missense NM_001407669.1:c.917T>A NP_001394598.1:p.Leu306Gln missense NM_001407670.1:c.914T>A NP_001394599.1:p.Leu305Gln missense NM_001407671.1:c.914T>A NP_001394600.1:p.Leu305Gln missense NM_001407672.1:c.914T>A NP_001394601.1:p.Leu305Gln missense NM_001407673.1:c.914T>A NP_001394602.1:p.Leu305Gln missense NM_001407674.1:c.917T>A NP_001394603.1:p.Leu306Gln missense NM_001407675.1:c.917T>A NP_001394604.1:p.Leu306Gln missense NM_001407676.1:c.917T>A NP_001394605.1:p.Leu306Gln missense NM_001407677.1:c.917T>A NP_001394606.1:p.Leu306Gln missense NM_001407678.1:c.917T>A NP_001394607.1:p.Leu306Gln missense NM_001407679.1:c.917T>A NP_001394608.1:p.Leu306Gln missense NM_001407680.1:c.917T>A NP_001394609.1:p.Leu306Gln missense NM_001407681.1:c.917T>A NP_001394610.1:p.Leu306Gln missense NM_001407682.1:c.917T>A NP_001394611.1:p.Leu306Gln missense NM_001407683.1:c.917T>A NP_001394612.1:p.Leu306Gln missense NM_001407684.1:c.1040T>A NP_001394613.1:p.Leu347Gln missense NM_001407685.1:c.914T>A NP_001394614.1:p.Leu305Gln missense NM_001407686.1:c.914T>A NP_001394615.1:p.Leu305Gln missense NM_001407687.1:c.914T>A NP_001394616.1:p.Leu305Gln missense NM_001407688.1:c.914T>A NP_001394617.1:p.Leu305Gln missense NM_001407689.1:c.914T>A NP_001394618.1:p.Leu305Gln missense NM_001407690.1:c.914T>A NP_001394619.1:p.Leu305Gln missense NM_001407691.1:c.914T>A NP_001394620.1:p.Leu305Gln missense NM_001407692.1:c.899T>A NP_001394621.1:p.Leu300Gln missense NM_001407694.1:c.899T>A NP_001394623.1:p.Leu300Gln missense NM_001407695.1:c.899T>A NP_001394624.1:p.Leu300Gln missense NM_001407696.1:c.899T>A NP_001394625.1:p.Leu300Gln missense NM_001407697.1:c.899T>A NP_001394626.1:p.Leu300Gln missense NM_001407698.1:c.899T>A NP_001394627.1:p.Leu300Gln missense NM_001407724.1:c.899T>A NP_001394653.1:p.Leu300Gln missense NM_001407725.1:c.899T>A NP_001394654.1:p.Leu300Gln missense NM_001407726.1:c.899T>A NP_001394655.1:p.Leu300Gln missense NM_001407727.1:c.899T>A NP_001394656.1:p.Leu300Gln missense NM_001407728.1:c.899T>A NP_001394657.1:p.Leu300Gln missense NM_001407729.1:c.899T>A NP_001394658.1:p.Leu300Gln missense NM_001407730.1:c.899T>A NP_001394659.1:p.Leu300Gln missense NM_001407731.1:c.899T>A NP_001394660.1:p.Leu300Gln missense NM_001407732.1:c.899T>A NP_001394661.1:p.Leu300Gln missense NM_001407733.1:c.899T>A NP_001394662.1:p.Leu300Gln missense NM_001407734.1:c.899T>A NP_001394663.1:p.Leu300Gln missense NM_001407735.1:c.899T>A NP_001394664.1:p.Leu300Gln missense NM_001407736.1:c.899T>A NP_001394665.1:p.Leu300Gln missense NM_001407737.1:c.899T>A NP_001394666.1:p.Leu300Gln missense NM_001407738.1:c.899T>A NP_001394667.1:p.Leu300Gln missense NM_001407739.1:c.899T>A NP_001394668.1:p.Leu300Gln missense NM_001407740.1:c.896T>A NP_001394669.1:p.Leu299Gln missense NM_001407741.1:c.896T>A NP_001394670.1:p.Leu299Gln missense NM_001407742.1:c.896T>A NP_001394671.1:p.Leu299Gln missense NM_001407743.1:c.896T>A NP_001394672.1:p.Leu299Gln missense NM_001407744.1:c.896T>A NP_001394673.1:p.Leu299Gln missense NM_001407745.1:c.896T>A NP_001394674.1:p.Leu299Gln missense NM_001407746.1:c.896T>A NP_001394675.1:p.Leu299Gln missense NM_001407747.1:c.896T>A NP_001394676.1:p.Leu299Gln missense NM_001407748.1:c.896T>A NP_001394677.1:p.Leu299Gln missense NM_001407749.1:c.896T>A NP_001394678.1:p.Leu299Gln missense NM_001407750.1:c.899T>A NP_001394679.1:p.Leu300Gln missense NM_001407751.1:c.899T>A NP_001394680.1:p.Leu300Gln missense NM_001407752.1:c.899T>A NP_001394681.1:p.Leu300Gln missense NM_001407838.1:c.896T>A NP_001394767.1:p.Leu299Gln missense NM_001407839.1:c.896T>A NP_001394768.1:p.Leu299Gln missense NM_001407841.1:c.896T>A NP_001394770.1:p.Leu299Gln missense NM_001407842.1:c.896T>A NP_001394771.1:p.Leu299Gln missense NM_001407843.1:c.896T>A NP_001394772.1:p.Leu299Gln missense NM_001407844.1:c.896T>A NP_001394773.1:p.Leu299Gln missense NM_001407845.1:c.896T>A NP_001394774.1:p.Leu299Gln missense NM_001407846.1:c.896T>A NP_001394775.1:p.Leu299Gln missense NM_001407847.1:c.896T>A NP_001394776.1:p.Leu299Gln missense NM_001407848.1:c.896T>A NP_001394777.1:p.Leu299Gln missense NM_001407849.1:c.896T>A NP_001394778.1:p.Leu299Gln missense NM_001407850.1:c.899T>A NP_001394779.1:p.Leu300Gln missense NM_001407851.1:c.899T>A NP_001394780.1:p.Leu300Gln missense NM_001407852.1:c.899T>A NP_001394781.1:p.Leu300Gln missense NM_001407853.1:c.827T>A NP_001394782.1:p.Leu276Gln missense NM_001407854.1:c.1040T>A NP_001394783.1:p.Leu347Gln missense NM_001407858.1:c.1040T>A NP_001394787.1:p.Leu347Gln missense NM_001407859.1:c.1040T>A NP_001394788.1:p.Leu347Gln missense NM_001407860.1:c.1037T>A NP_001394789.1:p.Leu346Gln missense NM_001407861.1:c.1037T>A NP_001394790.1:p.Leu346Gln missense NM_001407862.1:c.839T>A NP_001394791.1:p.Leu280Gln missense NM_001407863.1:c.917T>A NP_001394792.1:p.Leu306Gln missense NM_001407874.1:c.836T>A NP_001394803.1:p.Leu279Gln missense NM_001407875.1:c.836T>A NP_001394804.1:p.Leu279Gln missense NM_001407879.1:c.830T>A NP_001394808.1:p.Leu277Gln missense NM_001407881.1:c.830T>A NP_001394810.1:p.Leu277Gln missense NM_001407882.1:c.830T>A NP_001394811.1:p.Leu277Gln missense NM_001407884.1:c.830T>A NP_001394813.1:p.Leu277Gln missense NM_001407885.1:c.830T>A NP_001394814.1:p.Leu277Gln missense NM_001407886.1:c.830T>A NP_001394815.1:p.Leu277Gln missense NM_001407887.1:c.830T>A NP_001394816.1:p.Leu277Gln missense NM_001407889.1:c.830T>A NP_001394818.1:p.Leu277Gln missense NM_001407894.1:c.827T>A NP_001394823.1:p.Leu276Gln missense NM_001407895.1:c.827T>A NP_001394824.1:p.Leu276Gln missense NM_001407896.1:c.827T>A NP_001394825.1:p.Leu276Gln missense NM_001407897.1:c.827T>A NP_001394826.1:p.Leu276Gln missense NM_001407898.1:c.827T>A NP_001394827.1:p.Leu276Gln missense NM_001407899.1:c.827T>A NP_001394828.1:p.Leu276Gln missense NM_001407900.1:c.830T>A NP_001394829.1:p.Leu277Gln missense NM_001407902.1:c.830T>A NP_001394831.1:p.Leu277Gln missense NM_001407904.1:c.830T>A NP_001394833.1:p.Leu277Gln missense NM_001407906.1:c.830T>A NP_001394835.1:p.Leu277Gln missense NM_001407907.1:c.830T>A NP_001394836.1:p.Leu277Gln missense NM_001407908.1:c.830T>A NP_001394837.1:p.Leu277Gln missense NM_001407909.1:c.830T>A NP_001394838.1:p.Leu277Gln missense NM_001407910.1:c.830T>A NP_001394839.1:p.Leu277Gln missense NM_001407915.1:c.827T>A NP_001394844.1:p.Leu276Gln missense NM_001407916.1:c.827T>A NP_001394845.1:p.Leu276Gln missense NM_001407917.1:c.827T>A NP_001394846.1:p.Leu276Gln missense NM_001407918.1:c.827T>A NP_001394847.1:p.Leu276Gln missense NM_001407919.1:c.917T>A NP_001394848.1:p.Leu306Gln missense NM_001407920.1:c.776T>A NP_001394849.1:p.Leu259Gln missense NM_001407921.1:c.776T>A NP_001394850.1:p.Leu259Gln missense NM_001407922.1:c.776T>A NP_001394851.1:p.Leu259Gln missense NM_001407923.1:c.776T>A NP_001394852.1:p.Leu259Gln missense NM_001407924.1:c.776T>A NP_001394853.1:p.Leu259Gln missense NM_001407925.1:c.776T>A NP_001394854.1:p.Leu259Gln missense NM_001407926.1:c.776T>A NP_001394855.1:p.Leu259Gln missense NM_001407927.1:c.776T>A NP_001394856.1:p.Leu259Gln missense NM_001407928.1:c.776T>A NP_001394857.1:p.Leu259Gln missense NM_001407929.1:c.776T>A NP_001394858.1:p.Leu259Gln missense NM_001407930.1:c.773T>A NP_001394859.1:p.Leu258Gln missense NM_001407931.1:c.773T>A NP_001394860.1:p.Leu258Gln missense NM_001407932.1:c.773T>A NP_001394861.1:p.Leu258Gln missense NM_001407933.1:c.776T>A NP_001394862.1:p.Leu259Gln missense NM_001407934.1:c.773T>A NP_001394863.1:p.Leu258Gln missense NM_001407935.1:c.776T>A NP_001394864.1:p.Leu259Gln missense NM_001407936.1:c.773T>A NP_001394865.1:p.Leu258Gln missense NM_001407937.1:c.917T>A NP_001394866.1:p.Leu306Gln missense NM_001407938.1:c.917T>A NP_001394867.1:p.Leu306Gln missense NM_001407939.1:c.917T>A NP_001394868.1:p.Leu306Gln missense NM_001407940.1:c.914T>A NP_001394869.1:p.Leu305Gln missense NM_001407941.1:c.914T>A NP_001394870.1:p.Leu305Gln missense NM_001407942.1:c.899T>A NP_001394871.1:p.Leu300Gln missense NM_001407943.1:c.896T>A NP_001394872.1:p.Leu299Gln missense NM_001407944.1:c.899T>A NP_001394873.1:p.Leu300Gln missense NM_001407945.1:c.899T>A NP_001394874.1:p.Leu300Gln missense NM_001407946.1:c.707T>A NP_001394875.1:p.Leu236Gln missense NM_001407947.1:c.707T>A NP_001394876.1:p.Leu236Gln missense NM_001407948.1:c.707T>A NP_001394877.1:p.Leu236Gln missense NM_001407949.1:c.707T>A NP_001394878.1:p.Leu236Gln missense NM_001407950.1:c.707T>A NP_001394879.1:p.Leu236Gln missense NM_001407951.1:c.707T>A NP_001394880.1:p.Leu236Gln missense NM_001407952.1:c.707T>A NP_001394881.1:p.Leu236Gln missense NM_001407953.1:c.707T>A NP_001394882.1:p.Leu236Gln missense NM_001407954.1:c.704T>A NP_001394883.1:p.Leu235Gln missense NM_001407955.1:c.704T>A NP_001394884.1:p.Leu235Gln missense NM_001407956.1:c.704T>A NP_001394885.1:p.Leu235Gln missense NM_001407957.1:c.707T>A NP_001394886.1:p.Leu236Gln missense NM_001407958.1:c.704T>A NP_001394887.1:p.Leu235Gln missense NM_001407959.1:c.659T>A NP_001394888.1:p.Leu220Gln missense NM_001407960.1:c.659T>A NP_001394889.1:p.Leu220Gln missense NM_001407962.1:c.656T>A NP_001394891.1:p.Leu219Gln missense NM_001407963.1:c.659T>A NP_001394892.1:p.Leu220Gln missense NM_001407964.1:c.896T>A NP_001394893.1:p.Leu299Gln missense NM_001407965.1:c.536T>A NP_001394894.1:p.Leu179Gln missense NM_001407966.1:c.152T>A NP_001394895.1:p.Leu51Gln missense NM_001407967.1:c.152T>A NP_001394896.1:p.Leu51Gln missense NM_001407968.1:c.787+253T>A intron variant NM_001407969.1:c.787+253T>A intron variant NM_001407970.1:c.787+253T>A intron variant NM_001407971.1:c.787+253T>A intron variant NM_001407972.1:c.784+253T>A intron variant NM_001407973.1:c.787+253T>A intron variant NM_001407974.1:c.787+253T>A intron variant NM_001407975.1:c.787+253T>A intron variant NM_001407976.1:c.787+253T>A intron variant NM_001407977.1:c.787+253T>A intron variant NM_001407978.1:c.787+253T>A intron variant NM_001407979.1:c.787+253T>A intron variant NM_001407980.1:c.787+253T>A intron variant NM_001407981.1:c.787+253T>A intron variant NM_001407982.1:c.787+253T>A intron variant NM_001407983.1:c.787+253T>A intron variant NM_001407984.1:c.784+253T>A intron variant NM_001407985.1:c.784+253T>A intron variant NM_001407986.1:c.784+253T>A intron variant NM_001407990.1:c.787+253T>A intron variant NM_001407991.1:c.784+253T>A intron variant NM_001407992.1:c.784+253T>A intron variant NM_001407993.1:c.787+253T>A intron variant NM_001408392.1:c.784+253T>A intron variant NM_001408396.1:c.784+253T>A intron variant NM_001408397.1:c.784+253T>A intron variant NM_001408398.1:c.784+253T>A intron variant NM_001408399.1:c.784+253T>A intron variant NM_001408400.1:c.784+253T>A intron variant NM_001408401.1:c.784+253T>A intron variant NM_001408402.1:c.784+253T>A intron variant NM_001408403.1:c.787+253T>A intron variant NM_001408404.1:c.787+253T>A intron variant NM_001408406.1:c.790+250T>A intron variant NM_001408407.1:c.784+253T>A intron variant NM_001408408.1:c.778+253T>A intron variant NM_001408409.1:c.709+253T>A intron variant NM_001408410.1:c.646+253T>A intron variant NM_001408411.1:c.709+253T>A intron variant NM_001408412.1:c.709+253T>A intron variant NM_001408413.1:c.706+253T>A intron variant NM_001408414.1:c.709+253T>A intron variant NM_001408415.1:c.709+253T>A intron variant NM_001408416.1:c.706+253T>A intron variant NM_001408418.1:c.670+1355T>A intron variant NM_001408419.1:c.670+1355T>A intron variant NM_001408420.1:c.670+1355T>A intron variant NM_001408421.1:c.667+1355T>A intron variant NM_001408422.1:c.670+1355T>A intron variant NM_001408423.1:c.670+1355T>A intron variant NM_001408424.1:c.667+1355T>A intron variant NM_001408425.1:c.664+253T>A intron variant NM_001408426.1:c.664+253T>A intron variant NM_001408427.1:c.664+253T>A intron variant NM_001408428.1:c.664+253T>A intron variant NM_001408429.1:c.664+253T>A intron variant NM_001408430.1:c.664+253T>A intron variant NM_001408431.1:c.667+1355T>A intron variant NM_001408432.1:c.661+253T>A intron variant NM_001408433.1:c.661+253T>A intron variant NM_001408434.1:c.661+253T>A intron variant NM_001408435.1:c.661+253T>A intron variant NM_001408436.1:c.664+253T>A intron variant NM_001408437.1:c.664+253T>A intron variant NM_001408438.1:c.664+253T>A intron variant NM_001408439.1:c.664+253T>A intron variant NM_001408440.1:c.664+253T>A intron variant NM_001408441.1:c.664+253T>A intron variant NM_001408442.1:c.664+253T>A intron variant NM_001408443.1:c.664+253T>A intron variant NM_001408444.1:c.664+253T>A intron variant NM_001408445.1:c.661+253T>A intron variant NM_001408446.1:c.661+253T>A intron variant NM_001408447.1:c.661+253T>A intron variant NM_001408448.1:c.661+253T>A intron variant NM_001408450.1:c.661+253T>A intron variant NM_001408451.1:c.652+253T>A intron variant NM_001408452.1:c.646+253T>A intron variant NM_001408453.1:c.646+253T>A intron variant NM_001408454.1:c.646+253T>A intron variant NM_001408455.1:c.646+253T>A intron variant NM_001408456.1:c.646+253T>A intron variant NM_001408457.1:c.646+253T>A intron variant NM_001408458.1:c.646+253T>A intron variant NM_001408459.1:c.646+253T>A intron variant NM_001408460.1:c.646+253T>A intron variant NM_001408461.1:c.646+253T>A intron variant NM_001408462.1:c.643+253T>A intron variant NM_001408463.1:c.643+253T>A intron variant NM_001408464.1:c.643+253T>A intron variant NM_001408465.1:c.643+253T>A intron variant NM_001408466.1:c.646+253T>A intron variant NM_001408467.1:c.646+253T>A intron variant NM_001408468.1:c.643+253T>A intron variant NM_001408469.1:c.646+253T>A intron variant NM_001408470.1:c.643+253T>A intron variant NM_001408472.1:c.787+253T>A intron variant NM_001408473.1:c.784+253T>A intron variant NM_001408474.1:c.586+253T>A intron variant NM_001408475.1:c.583+253T>A intron variant NM_001408476.1:c.586+253T>A intron variant NM_001408478.1:c.577+253T>A intron variant NM_001408479.1:c.577+253T>A intron variant NM_001408480.1:c.577+253T>A intron variant NM_001408481.1:c.577+253T>A intron variant NM_001408482.1:c.577+253T>A intron variant NM_001408483.1:c.577+253T>A intron variant NM_001408484.1:c.577+253T>A intron variant NM_001408485.1:c.577+253T>A intron variant NM_001408489.1:c.577+253T>A intron variant NM_001408490.1:c.574+253T>A intron variant NM_001408491.1:c.574+253T>A intron variant NM_001408492.1:c.577+253T>A intron variant NM_001408493.1:c.574+253T>A intron variant NM_001408494.1:c.548-3459T>A intron variant NM_001408495.1:c.545-3459T>A intron variant NM_001408496.1:c.523+253T>A intron variant NM_001408497.1:c.523+253T>A intron variant NM_001408498.1:c.523+253T>A intron variant NM_001408499.1:c.523+253T>A intron variant NM_001408500.1:c.523+253T>A intron variant NM_001408501.1:c.523+253T>A intron variant NM_001408502.1:c.454+253T>A intron variant NM_001408503.1:c.520+253T>A intron variant NM_001408504.1:c.520+253T>A intron variant NM_001408505.1:c.520+253T>A intron variant NM_001408506.1:c.460+1355T>A intron variant NM_001408507.1:c.460+1355T>A intron variant NM_001408508.1:c.451+253T>A intron variant NM_001408509.1:c.451+253T>A intron variant NM_001408510.1:c.406+253T>A intron variant NM_001408511.1:c.404-3459T>A intron variant NM_001408512.1:c.283+253T>A intron variant NM_001408513.1:c.577+253T>A intron variant NM_001408514.1:c.577+253T>A intron variant NM_007297.4:c.899T>A NP_009228.2:p.Leu300Gln missense NM_007298.4:c.787+253T>A intron variant NM_007299.4:c.787+253T>A intron variant NM_007300.4:c.1040T>A NP_009231.2:p.Leu347Gln missense NR_027676.1:n.1176T>A NC_000017.11:g.43094491A>T NC_000017.10:g.41246508A>T NG_005905.2:g.123493T>A LRG_292:g.123493T>A LRG_292t1:c.1040T>A LRG_292p1:p.Leu347Gln - Protein change
- L347Q, L300Q, L179Q, L235Q, L280Q, L321Q, L346Q, L51Q, L306Q, L236Q, L277Q, L279Q, L299Q, L320Q, L219Q, L220Q, L258Q, L259Q, L276Q, L305Q, L344Q
- Other names
- -
- Canonical SPDI
- NC_000017.11:43094490:A:T
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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.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
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 |
12887 | 14672 |
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 | RCV000510063.8 | |
Uncertain significance (1) |
criteria provided, single submitter
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Feb 23, 2018 | RCV000759486.4 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jul 30, 2019 | RCV001204569.2 |
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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Uncertain significance
(Jul 30, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001375781.1
First in ClinVar: Jul 16, 2020 Last updated: Jul 16, 2020 |
Comment:
This sequence change replaces leucine with glutamine at codon 347 of the BRCA1 protein (p.Leu347Gln). The leucine residue is moderately conserved and there is a … (more)
This sequence change replaces leucine with glutamine at codon 347 of the BRCA1 protein (p.Leu347Gln). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and glutamine. This variant is present in population databases (rs757987511, ExAC 0.01%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 441364). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
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Uncertain significance
(Feb 23, 2018)
|
criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888830.2
First in ClinVar: Mar 14, 2019 Last updated: Jan 01, 2022 |
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Likely benign
(Mar 23, 2023)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003846210.1
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
|
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
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Uncertain significance
(May 12, 2021)
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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: SCV000607945.5
First in ClinVar: Oct 23, 2017 Last updated: May 01, 2024 |
Comment:
The p.L347Q variant (also known as c.1040T>A), located in coding exon 9 of the BRCA1 gene, results from a T to A substitution at nucleotide … (more)
The p.L347Q variant (also known as c.1040T>A), located in coding exon 9 of the BRCA1 gene, results from a T to A substitution at nucleotide position 1040. The leucine at codon 347 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is 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 |
LOVD v.2.0: the next generation in gene variant databases. | Fokkema IF | Human mutation | 2011 | PMID: 21520333 |
Text-mined citations for rs757987511 ...
HelpRecord last updated Jun 02, 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.