ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2086dup (p.Thr696fs)
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
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NM_007294.4(BRCA1):c.2086dup (p.Thr696fs)
Variation ID: 266216 Accession: VCV000266216.7
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093444-43093445 (GRCh38) [ NCBI UCSC ] 17: 41245461-41245462 (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 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.2086dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr696fs frameshift NM_001407571.1:c.1873dup NP_001394500.1:p.Thr625fs frameshift NM_001407581.1:c.2086dup NP_001394510.1:p.Thr696fs frameshift NM_001407582.1:c.2086dup NP_001394511.1:p.Thr696fs frameshift NM_001407583.1:c.2086dup NP_001394512.1:p.Thr696fs frameshift NM_001407585.1:c.2086dup NP_001394514.1:p.Thr696fs frameshift NM_001407587.1:c.2083dup NP_001394516.1:p.Thr695fs frameshift NM_001407590.1:c.2083dup NP_001394519.1:p.Thr695fs frameshift NM_001407591.1:c.2083dup NP_001394520.1:p.Thr695fs frameshift NM_001407593.1:c.2086dup NP_001394522.1:p.Thr696fs frameshift NM_001407594.1:c.2086dup NP_001394523.1:p.Thr696fs frameshift NM_001407596.1:c.2086dup NP_001394525.1:p.Thr696fs frameshift NM_001407597.1:c.2086dup NP_001394526.1:p.Thr696fs frameshift NM_001407598.1:c.2086dup NP_001394527.1:p.Thr696fs frameshift NM_001407602.1:c.2086dup NP_001394531.1:p.Thr696fs frameshift NM_001407603.1:c.2086dup NP_001394532.1:p.Thr696fs frameshift NM_001407605.1:c.2086dup NP_001394534.1:p.Thr696fs frameshift NM_001407610.1:c.2083dup NP_001394539.1:p.Thr695fs frameshift NM_001407611.1:c.2083dup NP_001394540.1:p.Thr695fs frameshift NM_001407612.1:c.2083dup NP_001394541.1:p.Thr695fs frameshift NM_001407613.1:c.2083dup NP_001394542.1:p.Thr695fs frameshift NM_001407614.1:c.2083dup NP_001394543.1:p.Thr695fs frameshift NM_001407615.1:c.2083dup NP_001394544.1:p.Thr695fs frameshift NM_001407616.1:c.2086dup NP_001394545.1:p.Thr696fs frameshift NM_001407617.1:c.2086dup NP_001394546.1:p.Thr696fs frameshift NM_001407618.1:c.2086dup NP_001394547.1:p.Thr696fs frameshift NM_001407619.1:c.2086dup NP_001394548.1:p.Thr696fs frameshift NM_001407620.1:c.2086dup NP_001394549.1:p.Thr696fs frameshift NM_001407621.1:c.2086dup NP_001394550.1:p.Thr696fs frameshift NM_001407622.1:c.2086dup NP_001394551.1:p.Thr696fs frameshift NM_001407623.1:c.2086dup NP_001394552.1:p.Thr696fs frameshift NM_001407624.1:c.2086dup NP_001394553.1:p.Thr696fs frameshift NM_001407625.1:c.2086dup NP_001394554.1:p.Thr696fs frameshift NM_001407626.1:c.2086dup NP_001394555.1:p.Thr696fs frameshift NM_001407627.1:c.2083dup NP_001394556.1:p.Thr695fs frameshift NM_001407628.1:c.2083dup NP_001394557.1:p.Thr695fs frameshift NM_001407629.1:c.2083dup NP_001394558.1:p.Thr695fs frameshift NM_001407630.1:c.2083dup NP_001394559.1:p.Thr695fs frameshift NM_001407631.1:c.2083dup NP_001394560.1:p.Thr695fs frameshift NM_001407632.1:c.2083dup NP_001394561.1:p.Thr695fs frameshift NM_001407633.1:c.2083dup NP_001394562.1:p.Thr695fs frameshift NM_001407634.1:c.2083dup NP_001394563.1:p.Thr695fs frameshift NM_001407635.1:c.2083dup NP_001394564.1:p.Thr695fs frameshift NM_001407636.1:c.2083dup NP_001394565.1:p.Thr695fs frameshift NM_001407637.1:c.2083dup NP_001394566.1:p.Thr695fs frameshift NM_001407638.1:c.2083dup NP_001394567.1:p.Thr695fs frameshift NM_001407639.1:c.2086dup NP_001394568.1:p.Thr696fs frameshift NM_001407640.1:c.2086dup NP_001394569.1:p.Thr696fs frameshift NM_001407641.1:c.2086dup NP_001394570.1:p.Thr696fs frameshift NM_001407642.1:c.2086dup NP_001394571.1:p.Thr696fs frameshift NM_001407644.1:c.2083dup NP_001394573.1:p.Thr695fs frameshift NM_001407645.1:c.2083dup NP_001394574.1:p.Thr695fs frameshift NM_001407646.1:c.2077dup NP_001394575.1:p.Thr693fs frameshift NM_001407647.1:c.2077dup NP_001394576.1:p.Thr693fs frameshift NM_001407648.1:c.1963dup NP_001394577.1:p.Thr655fs frameshift NM_001407649.1:c.1960dup NP_001394578.1:p.Thr654fs frameshift NM_001407652.1:c.2086dup NP_001394581.1:p.Thr696fs frameshift NM_001407653.1:c.2008dup NP_001394582.1:p.Thr670fs frameshift NM_001407654.1:c.2008dup NP_001394583.1:p.Thr670fs frameshift NM_001407655.1:c.2008dup NP_001394584.1:p.Thr670fs frameshift NM_001407656.1:c.2008dup NP_001394585.1:p.Thr670fs frameshift NM_001407657.1:c.2008dup NP_001394586.1:p.Thr670fs frameshift NM_001407658.1:c.2008dup NP_001394587.1:p.Thr670fs frameshift NM_001407659.1:c.2005dup NP_001394588.1:p.Thr669fs frameshift NM_001407660.1:c.2005dup NP_001394589.1:p.Thr669fs frameshift NM_001407661.1:c.2005dup NP_001394590.1:p.Thr669fs frameshift NM_001407662.1:c.2005dup NP_001394591.1:p.Thr669fs frameshift NM_001407663.1:c.2008dup NP_001394592.1:p.Thr670fs frameshift NM_001407664.1:c.1963dup NP_001394593.1:p.Thr655fs frameshift NM_001407665.1:c.1963dup NP_001394594.1:p.Thr655fs frameshift NM_001407666.1:c.1963dup NP_001394595.1:p.Thr655fs frameshift NM_001407667.1:c.1963dup NP_001394596.1:p.Thr655fs frameshift NM_001407668.1:c.1963dup NP_001394597.1:p.Thr655fs frameshift NM_001407669.1:c.1963dup NP_001394598.1:p.Thr655fs frameshift NM_001407670.1:c.1960dup NP_001394599.1:p.Thr654fs frameshift NM_001407671.1:c.1960dup NP_001394600.1:p.Thr654fs frameshift NM_001407672.1:c.1960dup NP_001394601.1:p.Thr654fs frameshift NM_001407673.1:c.1960dup NP_001394602.1:p.Thr654fs frameshift NM_001407674.1:c.1963dup NP_001394603.1:p.Thr655fs frameshift NM_001407675.1:c.1963dup NP_001394604.1:p.Thr655fs frameshift NM_001407676.1:c.1963dup NP_001394605.1:p.Thr655fs frameshift NM_001407677.1:c.1963dup NP_001394606.1:p.Thr655fs frameshift NM_001407678.1:c.1963dup NP_001394607.1:p.Thr655fs frameshift NM_001407679.1:c.1963dup NP_001394608.1:p.Thr655fs frameshift NM_001407680.1:c.1963dup NP_001394609.1:p.Thr655fs frameshift NM_001407681.1:c.1963dup NP_001394610.1:p.Thr655fs frameshift NM_001407682.1:c.1963dup NP_001394611.1:p.Thr655fs frameshift NM_001407683.1:c.1963dup NP_001394612.1:p.Thr655fs frameshift NM_001407684.1:c.2086dup NP_001394613.1:p.Thr696fs frameshift NM_001407685.1:c.1960dup NP_001394614.1:p.Thr654fs frameshift NM_001407686.1:c.1960dup NP_001394615.1:p.Thr654fs frameshift NM_001407687.1:c.1960dup NP_001394616.1:p.Thr654fs frameshift NM_001407688.1:c.1960dup NP_001394617.1:p.Thr654fs frameshift NM_001407689.1:c.1960dup NP_001394618.1:p.Thr654fs frameshift NM_001407690.1:c.1960dup NP_001394619.1:p.Thr654fs frameshift NM_001407691.1:c.1960dup NP_001394620.1:p.Thr654fs frameshift NM_001407692.1:c.1945dup NP_001394621.1:p.Thr649fs frameshift NM_001407694.1:c.1945dup NP_001394623.1:p.Thr649fs frameshift NM_001407695.1:c.1945dup NP_001394624.1:p.Thr649fs frameshift NM_001407696.1:c.1945dup NP_001394625.1:p.Thr649fs frameshift NM_001407697.1:c.1945dup NP_001394626.1:p.Thr649fs frameshift NM_001407698.1:c.1945dup NP_001394627.1:p.Thr649fs frameshift NM_001407724.1:c.1945dup NP_001394653.1:p.Thr649fs frameshift NM_001407725.1:c.1945dup NP_001394654.1:p.Thr649fs frameshift NM_001407726.1:c.1945dup NP_001394655.1:p.Thr649fs frameshift NM_001407727.1:c.1945dup NP_001394656.1:p.Thr649fs frameshift NM_001407728.1:c.1945dup NP_001394657.1:p.Thr649fs frameshift NM_001407729.1:c.1945dup NP_001394658.1:p.Thr649fs frameshift NM_001407730.1:c.1945dup NP_001394659.1:p.Thr649fs frameshift NM_001407731.1:c.1945dup NP_001394660.1:p.Thr649fs frameshift NM_001407732.1:c.1945dup NP_001394661.1:p.Thr649fs frameshift NM_001407733.1:c.1945dup NP_001394662.1:p.Thr649fs frameshift NM_001407734.1:c.1945dup NP_001394663.1:p.Thr649fs frameshift NM_001407735.1:c.1945dup NP_001394664.1:p.Thr649fs frameshift NM_001407736.1:c.1945dup NP_001394665.1:p.Thr649fs frameshift NM_001407737.1:c.1945dup NP_001394666.1:p.Thr649fs frameshift NM_001407738.1:c.1945dup NP_001394667.1:p.Thr649fs frameshift NM_001407739.1:c.1945dup NP_001394668.1:p.Thr649fs frameshift NM_001407740.1:c.1942dup NP_001394669.1:p.Thr648fs frameshift NM_001407741.1:c.1942dup NP_001394670.1:p.Thr648fs frameshift NM_001407742.1:c.1942dup NP_001394671.1:p.Thr648fs frameshift NM_001407743.1:c.1942dup NP_001394672.1:p.Thr648fs frameshift NM_001407744.1:c.1942dup NP_001394673.1:p.Thr648fs frameshift NM_001407745.1:c.1942dup NP_001394674.1:p.Thr648fs frameshift NM_001407746.1:c.1942dup NP_001394675.1:p.Thr648fs frameshift NM_001407747.1:c.1942dup NP_001394676.1:p.Thr648fs frameshift NM_001407748.1:c.1942dup NP_001394677.1:p.Thr648fs frameshift NM_001407749.1:c.1942dup NP_001394678.1:p.Thr648fs frameshift NM_001407750.1:c.1945dup NP_001394679.1:p.Thr649fs frameshift NM_001407751.1:c.1945dup NP_001394680.1:p.Thr649fs frameshift NM_001407752.1:c.1945dup NP_001394681.1:p.Thr649fs frameshift NM_001407838.1:c.1942dup NP_001394767.1:p.Thr648fs frameshift NM_001407839.1:c.1942dup NP_001394768.1:p.Thr648fs frameshift NM_001407841.1:c.1942dup NP_001394770.1:p.Thr648fs frameshift NM_001407842.1:c.1942dup NP_001394771.1:p.Thr648fs frameshift NM_001407843.1:c.1942dup NP_001394772.1:p.Thr648fs frameshift NM_001407844.1:c.1942dup NP_001394773.1:p.Thr648fs frameshift NM_001407845.1:c.1942dup NP_001394774.1:p.Thr648fs frameshift NM_001407846.1:c.1942dup NP_001394775.1:p.Thr648fs frameshift NM_001407847.1:c.1942dup NP_001394776.1:p.Thr648fs frameshift NM_001407848.1:c.1942dup NP_001394777.1:p.Thr648fs frameshift NM_001407849.1:c.1942dup NP_001394778.1:p.Thr648fs frameshift NM_001407850.1:c.1945dup NP_001394779.1:p.Thr649fs frameshift NM_001407851.1:c.1945dup NP_001394780.1:p.Thr649fs frameshift NM_001407852.1:c.1945dup NP_001394781.1:p.Thr649fs frameshift NM_001407853.1:c.1873dup NP_001394782.1:p.Thr625fs frameshift NM_001407854.1:c.2086dup NP_001394783.1:p.Thr696fs frameshift NM_001407858.1:c.2086dup NP_001394787.1:p.Thr696fs frameshift NM_001407859.1:c.2086dup NP_001394788.1:p.Thr696fs frameshift NM_001407860.1:c.2083dup NP_001394789.1:p.Thr695fs frameshift NM_001407861.1:c.2083dup NP_001394790.1:p.Thr695fs frameshift NM_001407862.1:c.1885dup NP_001394791.1:p.Thr629fs frameshift NM_001407863.1:c.1963dup NP_001394792.1:p.Thr655fs frameshift NM_001407874.1:c.1882dup NP_001394803.1:p.Thr628fs frameshift NM_001407875.1:c.1882dup NP_001394804.1:p.Thr628fs frameshift NM_001407879.1:c.1876dup NP_001394808.1:p.Thr626fs frameshift NM_001407881.1:c.1876dup NP_001394810.1:p.Thr626fs frameshift NM_001407882.1:c.1876dup NP_001394811.1:p.Thr626fs frameshift NM_001407884.1:c.1876dup NP_001394813.1:p.Thr626fs frameshift NM_001407885.1:c.1876dup NP_001394814.1:p.Thr626fs frameshift NM_001407886.1:c.1876dup NP_001394815.1:p.Thr626fs frameshift NM_001407887.1:c.1876dup NP_001394816.1:p.Thr626fs frameshift NM_001407889.1:c.1876dup NP_001394818.1:p.Thr626fs frameshift NM_001407894.1:c.1873dup NP_001394823.1:p.Thr625fs frameshift NM_001407895.1:c.1873dup NP_001394824.1:p.Thr625fs frameshift NM_001407896.1:c.1873dup NP_001394825.1:p.Thr625fs frameshift NM_001407897.1:c.1873dup NP_001394826.1:p.Thr625fs frameshift NM_001407898.1:c.1873dup NP_001394827.1:p.Thr625fs frameshift NM_001407899.1:c.1873dup NP_001394828.1:p.Thr625fs frameshift NM_001407900.1:c.1876dup NP_001394829.1:p.Thr626fs frameshift NM_001407902.1:c.1876dup NP_001394831.1:p.Thr626fs frameshift NM_001407904.1:c.1876dup NP_001394833.1:p.Thr626fs frameshift NM_001407906.1:c.1876dup NP_001394835.1:p.Thr626fs frameshift NM_001407907.1:c.1876dup NP_001394836.1:p.Thr626fs frameshift NM_001407908.1:c.1876dup NP_001394837.1:p.Thr626fs frameshift NM_001407909.1:c.1876dup NP_001394838.1:p.Thr626fs frameshift NM_001407910.1:c.1876dup NP_001394839.1:p.Thr626fs frameshift NM_001407915.1:c.1873dup NP_001394844.1:p.Thr625fs frameshift NM_001407916.1:c.1873dup NP_001394845.1:p.Thr625fs frameshift NM_001407917.1:c.1873dup NP_001394846.1:p.Thr625fs frameshift NM_001407918.1:c.1873dup NP_001394847.1:p.Thr625fs frameshift NM_001407919.1:c.1963dup NP_001394848.1:p.Thr655fs frameshift NM_001407920.1:c.1822dup NP_001394849.1:p.Thr608fs frameshift NM_001407921.1:c.1822dup NP_001394850.1:p.Thr608fs frameshift NM_001407922.1:c.1822dup NP_001394851.1:p.Thr608fs frameshift NM_001407923.1:c.1822dup NP_001394852.1:p.Thr608fs frameshift NM_001407924.1:c.1822dup NP_001394853.1:p.Thr608fs frameshift NM_001407925.1:c.1822dup NP_001394854.1:p.Thr608fs frameshift NM_001407926.1:c.1822dup NP_001394855.1:p.Thr608fs frameshift NM_001407927.1:c.1822dup NP_001394856.1:p.Thr608fs frameshift NM_001407928.1:c.1822dup NP_001394857.1:p.Thr608fs frameshift NM_001407929.1:c.1822dup NP_001394858.1:p.Thr608fs frameshift NM_001407930.1:c.1819dup NP_001394859.1:p.Thr607fs frameshift NM_001407931.1:c.1819dup NP_001394860.1:p.Thr607fs frameshift NM_001407932.1:c.1819dup NP_001394861.1:p.Thr607fs frameshift NM_001407933.1:c.1822dup NP_001394862.1:p.Thr608fs frameshift NM_001407934.1:c.1819dup NP_001394863.1:p.Thr607fs frameshift NM_001407935.1:c.1822dup NP_001394864.1:p.Thr608fs frameshift NM_001407936.1:c.1819dup NP_001394865.1:p.Thr607fs frameshift NM_001407937.1:c.1963dup NP_001394866.1:p.Thr655fs frameshift NM_001407938.1:c.1963dup NP_001394867.1:p.Thr655fs frameshift NM_001407939.1:c.1963dup NP_001394868.1:p.Thr655fs frameshift NM_001407940.1:c.1960dup NP_001394869.1:p.Thr654fs frameshift NM_001407941.1:c.1960dup NP_001394870.1:p.Thr654fs frameshift NM_001407942.1:c.1945dup NP_001394871.1:p.Thr649fs frameshift NM_001407943.1:c.1942dup NP_001394872.1:p.Thr648fs frameshift NM_001407944.1:c.1945dup NP_001394873.1:p.Thr649fs frameshift NM_001407945.1:c.1945dup NP_001394874.1:p.Thr649fs frameshift NM_001407946.1:c.1753dup NP_001394875.1:p.Thr585fs frameshift NM_001407947.1:c.1753dup NP_001394876.1:p.Thr585fs frameshift NM_001407948.1:c.1753dup NP_001394877.1:p.Thr585fs frameshift NM_001407949.1:c.1753dup NP_001394878.1:p.Thr585fs frameshift NM_001407950.1:c.1753dup NP_001394879.1:p.Thr585fs frameshift NM_001407951.1:c.1753dup NP_001394880.1:p.Thr585fs frameshift NM_001407952.1:c.1753dup NP_001394881.1:p.Thr585fs frameshift NM_001407953.1:c.1753dup NP_001394882.1:p.Thr585fs frameshift NM_001407954.1:c.1750dup NP_001394883.1:p.Thr584fs frameshift NM_001407955.1:c.1750dup NP_001394884.1:p.Thr584fs frameshift NM_001407956.1:c.1750dup NP_001394885.1:p.Thr584fs frameshift NM_001407957.1:c.1753dup NP_001394886.1:p.Thr585fs frameshift NM_001407958.1:c.1750dup NP_001394887.1:p.Thr584fs frameshift NM_001407959.1:c.1705dup NP_001394888.1:p.Thr569fs frameshift NM_001407960.1:c.1705dup NP_001394889.1:p.Thr569fs frameshift NM_001407962.1:c.1702dup NP_001394891.1:p.Thr568fs frameshift NM_001407963.1:c.1705dup NP_001394892.1:p.Thr569fs frameshift NM_001407964.1:c.1942dup NP_001394893.1:p.Thr648fs frameshift NM_001407965.1:c.1582dup NP_001394894.1:p.Thr528fs frameshift NM_001407966.1:c.1198dup NP_001394895.1:p.Thr400fs frameshift NM_001407967.1:c.1198dup NP_001394896.1:p.Thr400fs frameshift NM_001407968.1:c.787+1299dup intron variant NM_001407969.1:c.787+1299dup intron variant NM_001407970.1:c.787+1299dup intron variant NM_001407971.1:c.787+1299dup intron variant NM_001407972.1:c.784+1299dup intron variant NM_001407973.1:c.787+1299dup intron variant NM_001407974.1:c.787+1299dup intron variant NM_001407975.1:c.787+1299dup intron variant NM_001407976.1:c.787+1299dup intron variant NM_001407977.1:c.787+1299dup intron variant NM_001407978.1:c.787+1299dup intron variant NM_001407979.1:c.787+1299dup intron variant NM_001407980.1:c.787+1299dup intron variant NM_001407981.1:c.787+1299dup intron variant NM_001407982.1:c.787+1299dup intron variant NM_001407983.1:c.787+1299dup intron variant NM_001407984.1:c.784+1299dup intron variant NM_001407985.1:c.784+1299dup intron variant NM_001407986.1:c.784+1299dup intron variant NM_001407990.1:c.787+1299dup intron variant NM_001407991.1:c.784+1299dup intron variant NM_001407992.1:c.784+1299dup intron variant NM_001407993.1:c.787+1299dup intron variant NM_001408392.1:c.784+1299dup intron variant NM_001408396.1:c.784+1299dup intron variant NM_001408397.1:c.784+1299dup intron variant NM_001408398.1:c.784+1299dup intron variant NM_001408399.1:c.784+1299dup intron variant NM_001408400.1:c.784+1299dup intron variant NM_001408401.1:c.784+1299dup intron variant NM_001408402.1:c.784+1299dup intron variant NM_001408403.1:c.787+1299dup intron variant NM_001408404.1:c.787+1299dup intron variant NM_001408406.1:c.790+1296dup intron variant NM_001408407.1:c.784+1299dup intron variant NM_001408408.1:c.778+1299dup intron variant NM_001408409.1:c.709+1299dup intron variant NM_001408410.1:c.646+1299dup intron variant NM_001408411.1:c.709+1299dup intron variant NM_001408412.1:c.709+1299dup intron variant NM_001408413.1:c.706+1299dup intron variant NM_001408414.1:c.709+1299dup intron variant NM_001408415.1:c.709+1299dup intron variant NM_001408416.1:c.706+1299dup intron variant NM_001408418.1:c.670+2401dup intron variant NM_001408419.1:c.670+2401dup intron variant NM_001408420.1:c.670+2401dup intron variant NM_001408421.1:c.667+2401dup intron variant NM_001408422.1:c.670+2401dup intron variant NM_001408423.1:c.670+2401dup intron variant NM_001408424.1:c.667+2401dup intron variant NM_001408425.1:c.664+1299dup intron variant NM_001408426.1:c.664+1299dup intron variant NM_001408427.1:c.664+1299dup intron variant NM_001408428.1:c.664+1299dup intron variant NM_001408429.1:c.664+1299dup intron variant NM_001408430.1:c.664+1299dup intron variant NM_001408431.1:c.667+2401dup intron variant NM_001408432.1:c.661+1299dup intron variant NM_001408433.1:c.661+1299dup intron variant NM_001408434.1:c.661+1299dup intron variant NM_001408435.1:c.661+1299dup intron variant NM_001408436.1:c.664+1299dup intron variant NM_001408437.1:c.664+1299dup intron variant NM_001408438.1:c.664+1299dup intron variant NM_001408439.1:c.664+1299dup intron variant NM_001408440.1:c.664+1299dup intron variant NM_001408441.1:c.664+1299dup intron variant NM_001408442.1:c.664+1299dup intron variant NM_001408443.1:c.664+1299dup intron variant NM_001408444.1:c.664+1299dup intron variant NM_001408445.1:c.661+1299dup intron variant NM_001408446.1:c.661+1299dup intron variant NM_001408447.1:c.661+1299dup intron variant NM_001408448.1:c.661+1299dup intron variant NM_001408450.1:c.661+1299dup intron variant NM_001408451.1:c.652+1299dup intron variant NM_001408452.1:c.646+1299dup intron variant NM_001408453.1:c.646+1299dup intron variant NM_001408454.1:c.646+1299dup intron variant NM_001408455.1:c.646+1299dup intron variant NM_001408456.1:c.646+1299dup intron variant NM_001408457.1:c.646+1299dup intron variant NM_001408458.1:c.646+1299dup intron variant NM_001408459.1:c.646+1299dup intron variant NM_001408460.1:c.646+1299dup intron variant NM_001408461.1:c.646+1299dup intron variant NM_001408462.1:c.643+1299dup intron variant NM_001408463.1:c.643+1299dup intron variant NM_001408464.1:c.643+1299dup intron variant NM_001408465.1:c.643+1299dup intron variant NM_001408466.1:c.646+1299dup intron variant NM_001408467.1:c.646+1299dup intron variant NM_001408468.1:c.643+1299dup intron variant NM_001408469.1:c.646+1299dup intron variant NM_001408470.1:c.643+1299dup intron variant NM_001408472.1:c.787+1299dup intron variant NM_001408473.1:c.784+1299dup intron variant NM_001408474.1:c.586+1299dup intron variant NM_001408475.1:c.583+1299dup intron variant NM_001408476.1:c.586+1299dup intron variant NM_001408478.1:c.577+1299dup intron variant NM_001408479.1:c.577+1299dup intron variant NM_001408480.1:c.577+1299dup intron variant NM_001408481.1:c.577+1299dup intron variant NM_001408482.1:c.577+1299dup intron variant NM_001408483.1:c.577+1299dup intron variant NM_001408484.1:c.577+1299dup intron variant NM_001408485.1:c.577+1299dup intron variant NM_001408489.1:c.577+1299dup intron variant NM_001408490.1:c.574+1299dup intron variant NM_001408491.1:c.574+1299dup intron variant NM_001408492.1:c.577+1299dup intron variant NM_001408493.1:c.574+1299dup intron variant NM_001408494.1:c.548-2413dup intron variant NM_001408495.1:c.545-2413dup intron variant NM_001408496.1:c.523+1299dup intron variant NM_001408497.1:c.523+1299dup intron variant NM_001408498.1:c.523+1299dup intron variant NM_001408499.1:c.523+1299dup intron variant NM_001408500.1:c.523+1299dup intron variant NM_001408501.1:c.523+1299dup intron variant NM_001408502.1:c.454+1299dup intron variant NM_001408503.1:c.520+1299dup intron variant NM_001408504.1:c.520+1299dup intron variant NM_001408505.1:c.520+1299dup intron variant NM_001408506.1:c.460+2401dup intron variant NM_001408507.1:c.460+2401dup intron variant NM_001408508.1:c.451+1299dup intron variant NM_001408509.1:c.451+1299dup intron variant NM_001408510.1:c.406+1299dup intron variant NM_001408511.1:c.404-2413dup intron variant NM_001408512.1:c.283+1299dup intron variant NM_001408513.1:c.577+1299dup intron variant NM_001408514.1:c.577+1299dup intron variant NM_007297.4:c.1945dup NP_009228.2:p.Thr649fs frameshift NM_007298.4:c.787+1299dup intron variant NM_007299.4:c.787+1299dup intron variant NM_007300.4:c.2086dup NP_009231.2:p.Thr696fs frameshift NR_027676.1:n.2222dup NC_000017.11:g.43093445dup NC_000017.10:g.41245462dup NG_005905.2:g.124539dup LRG_292:g.124539dup LRG_292t1:c.2086dup LRG_292p1:p.Thr696Asnfs - Protein change
- T696fs, T649fs, T528fs, T568fs, T584fs, T648fs, T670fs, T569fs, T654fs, T585fs, T607fs, T695fs, T400fs, T608fs, T625fs, T626fs, T628fs, T629fs, T655fs, T669fs, T693fs
- Other names
- 2205insA
- Canonical SPDI
- NC_000017.11:43093444:T:TT
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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 |
12795 | 14565 |
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 (2) |
reviewed by expert panel
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Oct 18, 2016 | RCV000257814.13 |
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: SCV000323394.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325231.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
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 rs886039995 ...
HelpRecord last updated Apr 20, 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.