ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2710del (p.Glu904fs)
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.2710del (p.Glu904fs)
Variation ID: 266297 Accession: VCV000266297.4
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092821 (GRCh38) [ NCBI UCSC ] 17: 41244838 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2710del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu904fs frameshift NM_001407571.1:c.2497del NP_001394500.1:p.Glu833fs frameshift NM_001407581.1:c.2710del NP_001394510.1:p.Glu904fs frameshift NM_001407582.1:c.2710del NP_001394511.1:p.Glu904fs frameshift NM_001407583.1:c.2710del NP_001394512.1:p.Glu904fs frameshift NM_001407585.1:c.2710del NP_001394514.1:p.Glu904fs frameshift NM_001407587.1:c.2707del NP_001394516.1:p.Glu903fs frameshift NM_001407590.1:c.2707del NP_001394519.1:p.Glu903fs frameshift NM_001407591.1:c.2707del NP_001394520.1:p.Glu903fs frameshift NM_001407593.1:c.2710del NP_001394522.1:p.Glu904fs frameshift NM_001407594.1:c.2710del NP_001394523.1:p.Glu904fs frameshift NM_001407596.1:c.2710del NP_001394525.1:p.Glu904fs frameshift NM_001407597.1:c.2710del NP_001394526.1:p.Glu904fs frameshift NM_001407598.1:c.2710del NP_001394527.1:p.Glu904fs frameshift NM_001407602.1:c.2710del NP_001394531.1:p.Glu904fs frameshift NM_001407603.1:c.2710del NP_001394532.1:p.Glu904fs frameshift NM_001407605.1:c.2710del NP_001394534.1:p.Glu904fs frameshift NM_001407610.1:c.2707del NP_001394539.1:p.Glu903fs frameshift NM_001407611.1:c.2707del NP_001394540.1:p.Glu903fs frameshift NM_001407612.1:c.2707del NP_001394541.1:p.Glu903fs frameshift NM_001407613.1:c.2707del NP_001394542.1:p.Glu903fs frameshift NM_001407614.1:c.2707del NP_001394543.1:p.Glu903fs frameshift NM_001407615.1:c.2707del NP_001394544.1:p.Glu903fs frameshift NM_001407616.1:c.2710del NP_001394545.1:p.Glu904fs frameshift NM_001407617.1:c.2710del NP_001394546.1:p.Glu904fs frameshift NM_001407618.1:c.2710del NP_001394547.1:p.Glu904fs frameshift NM_001407619.1:c.2710del NP_001394548.1:p.Glu904fs frameshift NM_001407620.1:c.2710del NP_001394549.1:p.Glu904fs frameshift NM_001407621.1:c.2710del NP_001394550.1:p.Glu904fs frameshift NM_001407622.1:c.2710del NP_001394551.1:p.Glu904fs frameshift NM_001407623.1:c.2710del NP_001394552.1:p.Glu904fs frameshift NM_001407624.1:c.2710del NP_001394553.1:p.Glu904fs frameshift NM_001407625.1:c.2710del NP_001394554.1:p.Glu904fs frameshift NM_001407626.1:c.2710del NP_001394555.1:p.Glu904fs frameshift NM_001407627.1:c.2707del NP_001394556.1:p.Glu903fs frameshift NM_001407628.1:c.2707del NP_001394557.1:p.Glu903fs frameshift NM_001407629.1:c.2707del NP_001394558.1:p.Glu903fs frameshift NM_001407630.1:c.2707del NP_001394559.1:p.Glu903fs frameshift NM_001407631.1:c.2707del NP_001394560.1:p.Glu903fs frameshift NM_001407632.1:c.2707del NP_001394561.1:p.Glu903fs frameshift NM_001407633.1:c.2707del NP_001394562.1:p.Glu903fs frameshift NM_001407634.1:c.2707del NP_001394563.1:p.Glu903fs frameshift NM_001407635.1:c.2707del NP_001394564.1:p.Glu903fs frameshift NM_001407636.1:c.2707del NP_001394565.1:p.Glu903fs frameshift NM_001407637.1:c.2707del NP_001394566.1:p.Glu903fs frameshift NM_001407638.1:c.2707del NP_001394567.1:p.Glu903fs frameshift NM_001407639.1:c.2710del NP_001394568.1:p.Glu904fs frameshift NM_001407640.1:c.2710del NP_001394569.1:p.Glu904fs frameshift NM_001407641.1:c.2710del NP_001394570.1:p.Glu904fs frameshift NM_001407642.1:c.2710del NP_001394571.1:p.Glu904fs frameshift NM_001407644.1:c.2707del NP_001394573.1:p.Glu903fs frameshift NM_001407645.1:c.2707del NP_001394574.1:p.Glu903fs frameshift NM_001407646.1:c.2701del NP_001394575.1:p.Glu901fs frameshift NM_001407647.1:c.2701del NP_001394576.1:p.Glu901fs frameshift NM_001407648.1:c.2587del NP_001394577.1:p.Glu863fs frameshift NM_001407649.1:c.2584del NP_001394578.1:p.Glu862fs frameshift NM_001407652.1:c.2710del NP_001394581.1:p.Glu904fs frameshift NM_001407653.1:c.2632del NP_001394582.1:p.Glu878fs frameshift NM_001407654.1:c.2632del NP_001394583.1:p.Glu878fs frameshift NM_001407655.1:c.2632del NP_001394584.1:p.Glu878fs frameshift NM_001407656.1:c.2632del NP_001394585.1:p.Glu878fs frameshift NM_001407657.1:c.2632del NP_001394586.1:p.Glu878fs frameshift NM_001407658.1:c.2632del NP_001394587.1:p.Glu878fs frameshift NM_001407659.1:c.2629del NP_001394588.1:p.Glu877fs frameshift NM_001407660.1:c.2629del NP_001394589.1:p.Glu877fs frameshift NM_001407661.1:c.2629del NP_001394590.1:p.Glu877fs frameshift NM_001407662.1:c.2629del NP_001394591.1:p.Glu877fs frameshift NM_001407663.1:c.2632del NP_001394592.1:p.Glu878fs frameshift NM_001407664.1:c.2587del NP_001394593.1:p.Glu863fs frameshift NM_001407665.1:c.2587del NP_001394594.1:p.Glu863fs frameshift NM_001407666.1:c.2587del NP_001394595.1:p.Glu863fs frameshift NM_001407667.1:c.2587del NP_001394596.1:p.Glu863fs frameshift NM_001407668.1:c.2587del NP_001394597.1:p.Glu863fs frameshift NM_001407669.1:c.2587del NP_001394598.1:p.Glu863fs frameshift NM_001407670.1:c.2584del NP_001394599.1:p.Glu862fs frameshift NM_001407671.1:c.2584del NP_001394600.1:p.Glu862fs frameshift NM_001407672.1:c.2584del NP_001394601.1:p.Glu862fs frameshift NM_001407673.1:c.2584del NP_001394602.1:p.Glu862fs frameshift NM_001407674.1:c.2587del NP_001394603.1:p.Glu863fs frameshift NM_001407675.1:c.2587del NP_001394604.1:p.Glu863fs frameshift NM_001407676.1:c.2587del NP_001394605.1:p.Glu863fs frameshift NM_001407677.1:c.2587del NP_001394606.1:p.Glu863fs frameshift NM_001407678.1:c.2587del NP_001394607.1:p.Glu863fs frameshift NM_001407679.1:c.2587del NP_001394608.1:p.Glu863fs frameshift NM_001407680.1:c.2587del NP_001394609.1:p.Glu863fs frameshift NM_001407681.1:c.2587del NP_001394610.1:p.Glu863fs frameshift NM_001407682.1:c.2587del NP_001394611.1:p.Glu863fs frameshift NM_001407683.1:c.2587del NP_001394612.1:p.Glu863fs frameshift NM_001407684.1:c.2710del NP_001394613.1:p.Glu904fs frameshift NM_001407685.1:c.2584del NP_001394614.1:p.Glu862fs frameshift NM_001407686.1:c.2584del NP_001394615.1:p.Glu862fs frameshift NM_001407687.1:c.2584del NP_001394616.1:p.Glu862fs frameshift NM_001407688.1:c.2584del NP_001394617.1:p.Glu862fs frameshift NM_001407689.1:c.2584del NP_001394618.1:p.Glu862fs frameshift NM_001407690.1:c.2584del NP_001394619.1:p.Glu862fs frameshift NM_001407691.1:c.2584del NP_001394620.1:p.Glu862fs frameshift NM_001407692.1:c.2569del NP_001394621.1:p.Glu857fs frameshift NM_001407694.1:c.2569del NP_001394623.1:p.Glu857fs frameshift NM_001407695.1:c.2569del NP_001394624.1:p.Glu857fs frameshift NM_001407696.1:c.2569del NP_001394625.1:p.Glu857fs frameshift NM_001407697.1:c.2569del NP_001394626.1:p.Glu857fs frameshift NM_001407698.1:c.2569del NP_001394627.1:p.Glu857fs frameshift NM_001407724.1:c.2569del NP_001394653.1:p.Glu857fs frameshift NM_001407725.1:c.2569del NP_001394654.1:p.Glu857fs frameshift NM_001407726.1:c.2569del NP_001394655.1:p.Glu857fs frameshift NM_001407727.1:c.2569del NP_001394656.1:p.Glu857fs frameshift NM_001407728.1:c.2569del NP_001394657.1:p.Glu857fs frameshift NM_001407729.1:c.2569del NP_001394658.1:p.Glu857fs frameshift NM_001407730.1:c.2569del NP_001394659.1:p.Glu857fs frameshift NM_001407731.1:c.2569del NP_001394660.1:p.Glu857fs frameshift NM_001407732.1:c.2569del NP_001394661.1:p.Glu857fs frameshift NM_001407733.1:c.2569del NP_001394662.1:p.Glu857fs frameshift NM_001407734.1:c.2569del NP_001394663.1:p.Glu857fs frameshift NM_001407735.1:c.2569del NP_001394664.1:p.Glu857fs frameshift NM_001407736.1:c.2569del NP_001394665.1:p.Glu857fs frameshift NM_001407737.1:c.2569del NP_001394666.1:p.Glu857fs frameshift NM_001407738.1:c.2569del NP_001394667.1:p.Glu857fs frameshift NM_001407739.1:c.2569del NP_001394668.1:p.Glu857fs frameshift NM_001407740.1:c.2566del NP_001394669.1:p.Glu856fs frameshift NM_001407741.1:c.2566del NP_001394670.1:p.Glu856fs frameshift NM_001407742.1:c.2566del NP_001394671.1:p.Glu856fs frameshift NM_001407743.1:c.2566del NP_001394672.1:p.Glu856fs frameshift NM_001407744.1:c.2566del NP_001394673.1:p.Glu856fs frameshift NM_001407745.1:c.2566del NP_001394674.1:p.Glu856fs frameshift NM_001407746.1:c.2566del NP_001394675.1:p.Glu856fs frameshift NM_001407747.1:c.2566del NP_001394676.1:p.Glu856fs frameshift NM_001407748.1:c.2566del NP_001394677.1:p.Glu856fs frameshift NM_001407749.1:c.2566del NP_001394678.1:p.Glu856fs frameshift NM_001407750.1:c.2569del NP_001394679.1:p.Glu857fs frameshift NM_001407751.1:c.2569del NP_001394680.1:p.Glu857fs frameshift NM_001407752.1:c.2569del NP_001394681.1:p.Glu857fs frameshift NM_001407838.1:c.2566del NP_001394767.1:p.Glu856fs frameshift NM_001407839.1:c.2566del NP_001394768.1:p.Glu856fs frameshift NM_001407841.1:c.2566del NP_001394770.1:p.Glu856fs frameshift NM_001407842.1:c.2566del NP_001394771.1:p.Glu856fs frameshift NM_001407843.1:c.2566del NP_001394772.1:p.Glu856fs frameshift NM_001407844.1:c.2566del NP_001394773.1:p.Glu856fs frameshift NM_001407845.1:c.2566del NP_001394774.1:p.Glu856fs frameshift NM_001407846.1:c.2566del NP_001394775.1:p.Glu856fs frameshift NM_001407847.1:c.2566del NP_001394776.1:p.Glu856fs frameshift NM_001407848.1:c.2566del NP_001394777.1:p.Glu856fs frameshift NM_001407849.1:c.2566del NP_001394778.1:p.Glu856fs frameshift NM_001407850.1:c.2569del NP_001394779.1:p.Glu857fs frameshift NM_001407851.1:c.2569del NP_001394780.1:p.Glu857fs frameshift NM_001407852.1:c.2569del NP_001394781.1:p.Glu857fs frameshift NM_001407853.1:c.2497del NP_001394782.1:p.Glu833fs frameshift NM_001407854.1:c.2710del NP_001394783.1:p.Glu904fs frameshift NM_001407858.1:c.2710del NP_001394787.1:p.Glu904fs frameshift NM_001407859.1:c.2710del NP_001394788.1:p.Glu904fs frameshift NM_001407860.1:c.2707del NP_001394789.1:p.Glu903fs frameshift NM_001407861.1:c.2707del NP_001394790.1:p.Glu903fs frameshift NM_001407862.1:c.2509del NP_001394791.1:p.Glu837fs frameshift NM_001407863.1:c.2587del NP_001394792.1:p.Glu863fs frameshift NM_001407874.1:c.2506del NP_001394803.1:p.Glu836fs frameshift NM_001407875.1:c.2506del NP_001394804.1:p.Glu836fs frameshift NM_001407879.1:c.2500del NP_001394808.1:p.Glu834fs frameshift NM_001407881.1:c.2500del NP_001394810.1:p.Glu834fs frameshift NM_001407882.1:c.2500del NP_001394811.1:p.Glu834fs frameshift NM_001407884.1:c.2500del NP_001394813.1:p.Glu834fs frameshift NM_001407885.1:c.2500del NP_001394814.1:p.Glu834fs frameshift NM_001407886.1:c.2500del NP_001394815.1:p.Glu834fs frameshift NM_001407887.1:c.2500del NP_001394816.1:p.Glu834fs frameshift NM_001407889.1:c.2500del NP_001394818.1:p.Glu834fs frameshift NM_001407894.1:c.2497del NP_001394823.1:p.Glu833fs frameshift NM_001407895.1:c.2497del NP_001394824.1:p.Glu833fs frameshift NM_001407896.1:c.2497del NP_001394825.1:p.Glu833fs frameshift NM_001407897.1:c.2497del NP_001394826.1:p.Glu833fs frameshift NM_001407898.1:c.2497del NP_001394827.1:p.Glu833fs frameshift NM_001407899.1:c.2497del NP_001394828.1:p.Glu833fs frameshift NM_001407900.1:c.2500del NP_001394829.1:p.Glu834fs frameshift NM_001407902.1:c.2500del NP_001394831.1:p.Glu834fs frameshift NM_001407904.1:c.2500del NP_001394833.1:p.Glu834fs frameshift NM_001407906.1:c.2500del NP_001394835.1:p.Glu834fs frameshift NM_001407907.1:c.2500del NP_001394836.1:p.Glu834fs frameshift NM_001407908.1:c.2500del NP_001394837.1:p.Glu834fs frameshift NM_001407909.1:c.2500del NP_001394838.1:p.Glu834fs frameshift NM_001407910.1:c.2500del NP_001394839.1:p.Glu834fs frameshift NM_001407915.1:c.2497del NP_001394844.1:p.Glu833fs frameshift NM_001407916.1:c.2497del NP_001394845.1:p.Glu833fs frameshift NM_001407917.1:c.2497del NP_001394846.1:p.Glu833fs frameshift NM_001407918.1:c.2497del NP_001394847.1:p.Glu833fs frameshift NM_001407919.1:c.2587del NP_001394848.1:p.Glu863fs frameshift NM_001407920.1:c.2446del NP_001394849.1:p.Glu816fs frameshift NM_001407921.1:c.2446del NP_001394850.1:p.Glu816fs frameshift NM_001407922.1:c.2446del NP_001394851.1:p.Glu816fs frameshift NM_001407923.1:c.2446del NP_001394852.1:p.Glu816fs frameshift NM_001407924.1:c.2446del NP_001394853.1:p.Glu816fs frameshift NM_001407925.1:c.2446del NP_001394854.1:p.Glu816fs frameshift NM_001407926.1:c.2446del NP_001394855.1:p.Glu816fs frameshift NM_001407927.1:c.2446del NP_001394856.1:p.Glu816fs frameshift NM_001407928.1:c.2446del NP_001394857.1:p.Glu816fs frameshift NM_001407929.1:c.2446del NP_001394858.1:p.Glu816fs frameshift NM_001407930.1:c.2443del NP_001394859.1:p.Glu815fs frameshift NM_001407931.1:c.2443del NP_001394860.1:p.Glu815fs frameshift NM_001407932.1:c.2443del NP_001394861.1:p.Glu815fs frameshift NM_001407933.1:c.2446del NP_001394862.1:p.Glu816fs frameshift NM_001407934.1:c.2443del NP_001394863.1:p.Glu815fs frameshift NM_001407935.1:c.2446del NP_001394864.1:p.Glu816fs frameshift NM_001407936.1:c.2443del NP_001394865.1:p.Glu815fs frameshift NM_001407937.1:c.2587del NP_001394866.1:p.Glu863fs frameshift NM_001407938.1:c.2587del NP_001394867.1:p.Glu863fs frameshift NM_001407939.1:c.2587del NP_001394868.1:p.Glu863fs frameshift NM_001407940.1:c.2584del NP_001394869.1:p.Glu862fs frameshift NM_001407941.1:c.2584del NP_001394870.1:p.Glu862fs frameshift NM_001407942.1:c.2569del NP_001394871.1:p.Glu857fs frameshift NM_001407943.1:c.2566del NP_001394872.1:p.Glu856fs frameshift NM_001407944.1:c.2569del NP_001394873.1:p.Glu857fs frameshift NM_001407945.1:c.2569del NP_001394874.1:p.Glu857fs frameshift NM_001407946.1:c.2377del NP_001394875.1:p.Glu793fs frameshift NM_001407947.1:c.2377del NP_001394876.1:p.Glu793fs frameshift NM_001407948.1:c.2377del NP_001394877.1:p.Glu793fs frameshift NM_001407949.1:c.2377del NP_001394878.1:p.Glu793fs frameshift NM_001407950.1:c.2377del NP_001394879.1:p.Glu793fs frameshift NM_001407951.1:c.2377del NP_001394880.1:p.Glu793fs frameshift NM_001407952.1:c.2377del NP_001394881.1:p.Glu793fs frameshift NM_001407953.1:c.2377del NP_001394882.1:p.Glu793fs frameshift NM_001407954.1:c.2374del NP_001394883.1:p.Glu792fs frameshift NM_001407955.1:c.2374del NP_001394884.1:p.Glu792fs frameshift NM_001407956.1:c.2374del NP_001394885.1:p.Glu792fs frameshift NM_001407957.1:c.2377del NP_001394886.1:p.Glu793fs frameshift NM_001407958.1:c.2374del NP_001394887.1:p.Glu792fs frameshift NM_001407959.1:c.2329del NP_001394888.1:p.Glu777fs frameshift NM_001407960.1:c.2329del NP_001394889.1:p.Glu777fs frameshift NM_001407962.1:c.2326del NP_001394891.1:p.Glu776fs frameshift NM_001407963.1:c.2329del NP_001394892.1:p.Glu777fs frameshift NM_001407964.1:c.2566del NP_001394893.1:p.Glu856fs frameshift NM_001407965.1:c.2206del NP_001394894.1:p.Glu736fs frameshift NM_001407966.1:c.1822del NP_001394895.1:p.Glu608fs frameshift NM_001407967.1:c.1822del NP_001394896.1:p.Glu608fs frameshift NM_001407968.1:c.788-682del intron variant NM_001407969.1:c.788-682del intron variant NM_001407970.1:c.788-1789del intron variant NM_001407971.1:c.788-1789del intron variant NM_001407972.1:c.785-1789del intron variant NM_001407973.1:c.788-1789del intron variant NM_001407974.1:c.788-1789del intron variant NM_001407975.1:c.788-1789del intron variant NM_001407976.1:c.788-1789del intron variant NM_001407977.1:c.788-1789del intron variant NM_001407978.1:c.788-1789del intron variant NM_001407979.1:c.788-1789del intron variant NM_001407980.1:c.788-1789del intron variant NM_001407981.1:c.788-1789del intron variant NM_001407982.1:c.788-1789del intron variant NM_001407983.1:c.788-1789del intron variant NM_001407984.1:c.785-1789del intron variant NM_001407985.1:c.785-1789del intron variant NM_001407986.1:c.785-1789del intron variant NM_001407990.1:c.788-1789del intron variant NM_001407991.1:c.785-1789del intron variant NM_001407992.1:c.785-1789del intron variant NM_001407993.1:c.788-1789del intron variant NM_001408392.1:c.785-1789del intron variant NM_001408396.1:c.785-1789del intron variant NM_001408397.1:c.785-1789del intron variant NM_001408398.1:c.785-1789del intron variant NM_001408399.1:c.785-1789del intron variant NM_001408400.1:c.785-1789del intron variant NM_001408401.1:c.785-1789del intron variant NM_001408402.1:c.785-1789del intron variant NM_001408403.1:c.788-1789del intron variant NM_001408404.1:c.788-1789del intron variant NM_001408406.1:c.791-1798del intron variant NM_001408407.1:c.785-1789del intron variant NM_001408408.1:c.779-1789del intron variant NM_001408409.1:c.710-1789del intron variant NM_001408410.1:c.647-1789del intron variant NM_001408411.1:c.710-1789del intron variant NM_001408412.1:c.710-1789del intron variant NM_001408413.1:c.707-1789del intron variant NM_001408414.1:c.710-1789del intron variant NM_001408415.1:c.710-1789del intron variant NM_001408416.1:c.707-1789del intron variant NM_001408418.1:c.671-1789del intron variant NM_001408419.1:c.671-1789del intron variant NM_001408420.1:c.671-1789del intron variant NM_001408421.1:c.668-1789del intron variant NM_001408422.1:c.671-1789del intron variant NM_001408423.1:c.671-1789del intron variant NM_001408424.1:c.668-1789del intron variant NM_001408425.1:c.665-1789del intron variant NM_001408426.1:c.665-1789del intron variant NM_001408427.1:c.665-1789del intron variant NM_001408428.1:c.665-1789del intron variant NM_001408429.1:c.665-1789del intron variant NM_001408430.1:c.665-1789del intron variant NM_001408431.1:c.668-1789del intron variant NM_001408432.1:c.662-1789del intron variant NM_001408433.1:c.662-1789del intron variant NM_001408434.1:c.662-1789del intron variant NM_001408435.1:c.662-1789del intron variant NM_001408436.1:c.665-1789del intron variant NM_001408437.1:c.665-1789del intron variant NM_001408438.1:c.665-1789del intron variant NM_001408439.1:c.665-1789del intron variant NM_001408440.1:c.665-1789del intron variant NM_001408441.1:c.665-1789del intron variant NM_001408442.1:c.665-1789del intron variant NM_001408443.1:c.665-1789del intron variant NM_001408444.1:c.665-1789del intron variant NM_001408445.1:c.662-1789del intron variant NM_001408446.1:c.662-1789del intron variant NM_001408447.1:c.662-1789del intron variant NM_001408448.1:c.662-1789del intron variant NM_001408450.1:c.662-1789del intron variant NM_001408451.1:c.653-1789del intron variant NM_001408452.1:c.647-1789del intron variant NM_001408453.1:c.647-1789del intron variant NM_001408454.1:c.647-1789del intron variant NM_001408455.1:c.647-1789del intron variant NM_001408456.1:c.647-1789del intron variant NM_001408457.1:c.647-1789del intron variant NM_001408458.1:c.647-1789del intron variant NM_001408459.1:c.647-1789del intron variant NM_001408460.1:c.647-1789del intron variant NM_001408461.1:c.647-1789del intron variant NM_001408462.1:c.644-1789del intron variant NM_001408463.1:c.644-1789del intron variant NM_001408464.1:c.644-1789del intron variant NM_001408465.1:c.644-1789del intron variant NM_001408466.1:c.647-1789del intron variant NM_001408467.1:c.647-1789del intron variant NM_001408468.1:c.644-1789del intron variant NM_001408469.1:c.647-1789del intron variant NM_001408470.1:c.644-1789del intron variant NM_001408472.1:c.788-1789del intron variant NM_001408473.1:c.785-1789del intron variant NM_001408474.1:c.587-1789del intron variant NM_001408475.1:c.584-1789del intron variant NM_001408476.1:c.587-1789del intron variant NM_001408478.1:c.578-1789del intron variant NM_001408479.1:c.578-1789del intron variant NM_001408480.1:c.578-1789del intron variant NM_001408481.1:c.578-1789del intron variant NM_001408482.1:c.578-1789del intron variant NM_001408483.1:c.578-1789del intron variant NM_001408484.1:c.578-1789del intron variant NM_001408485.1:c.578-1789del intron variant NM_001408489.1:c.578-1789del intron variant NM_001408490.1:c.575-1789del intron variant NM_001408491.1:c.575-1789del intron variant NM_001408492.1:c.578-1789del intron variant NM_001408493.1:c.575-1789del intron variant NM_001408494.1:c.548-1789del intron variant NM_001408495.1:c.545-1789del intron variant NM_001408496.1:c.524-1789del intron variant NM_001408497.1:c.524-1789del intron variant NM_001408498.1:c.524-1789del intron variant NM_001408499.1:c.524-1789del intron variant NM_001408500.1:c.524-1789del intron variant NM_001408501.1:c.524-1789del intron variant NM_001408502.1:c.455-1789del intron variant NM_001408503.1:c.521-1789del intron variant NM_001408504.1:c.521-1789del intron variant NM_001408505.1:c.521-1789del intron variant NM_001408506.1:c.461-1789del intron variant NM_001408507.1:c.461-1789del intron variant NM_001408508.1:c.452-1789del intron variant NM_001408509.1:c.452-1789del intron variant NM_001408510.1:c.407-1789del intron variant NM_001408511.1:c.404-1789del intron variant NM_001408512.1:c.284-1789del intron variant NM_001408513.1:c.578-1789del intron variant NM_001408514.1:c.578-1789del intron variant NM_007294.3:c.2710delG NP_009225.1:p.Glu904Asnfs frameshift NM_007297.4:c.2569del NP_009228.2:p.Glu857fs frameshift NM_007298.4:c.788-1789del intron variant NM_007299.4:c.788-1789del intron variant NM_007300.4:c.2710del NP_009231.2:p.Glu904fs frameshift NR_027676.1:n.2846delG NC_000017.11:g.43092821del NC_000017.10:g.41244838del NG_005905.2:g.125163del LRG_292:g.125163del LRG_292t1:c.2710del LRG_292p1:p.Glu904fs - Protein change
- E904fs, E857fs, E792fs, E833fs, E834fs, E856fs, E608fs, E793fs, E815fs, E837fs, E736fs, E862fs, E901fs, E903fs, E776fs, E777fs, E816fs, E836fs, E863fs, E877fs, E878fs
- Other names
- 2829delG
- Canonical SPDI
- NC_000017.11:43092820:C:
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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 |
12746 | 14510 |
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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Pathogenic (1) |
reviewed by expert panel
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Oct 18, 2016 | RCV000256615.3 |
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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Pathogenic
(Oct 18, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323506.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs886040066 ...
HelpRecord last updated Jul 29, 2023
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.