ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2016dup (p.Glu673fs)
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.2016dup (p.Glu673fs)
Variation ID: 1456613 Accession: VCV001456613.8
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093514-43093515 (GRCh38) [ NCBI UCSC ] 17: 41245531-41245532 (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 Mar 28, 2022 Jun 17, 2024 Mar 22, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2016dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu673fs frameshift NM_001407571.1:c.1803dup NP_001394500.1:p.Glu602fs frameshift NM_001407581.1:c.2016dup NP_001394510.1:p.Glu673fs frameshift NM_001407582.1:c.2016dup NP_001394511.1:p.Glu673fs frameshift NM_001407583.1:c.2016dup NP_001394512.1:p.Glu673fs frameshift NM_001407585.1:c.2016dup NP_001394514.1:p.Glu673fs frameshift NM_001407587.1:c.2013dup NP_001394516.1:p.Glu672fs frameshift NM_001407590.1:c.2013dup NP_001394519.1:p.Glu672fs frameshift NM_001407591.1:c.2013dup NP_001394520.1:p.Glu672fs frameshift NM_001407593.1:c.2016dup NP_001394522.1:p.Glu673fs frameshift NM_001407594.1:c.2016dup NP_001394523.1:p.Glu673fs frameshift NM_001407596.1:c.2016dup NP_001394525.1:p.Glu673fs frameshift NM_001407597.1:c.2016dup NP_001394526.1:p.Glu673fs frameshift NM_001407598.1:c.2016dup NP_001394527.1:p.Glu673fs frameshift NM_001407602.1:c.2016dup NP_001394531.1:p.Glu673fs frameshift NM_001407603.1:c.2016dup NP_001394532.1:p.Glu673fs frameshift NM_001407605.1:c.2016dup NP_001394534.1:p.Glu673fs frameshift NM_001407610.1:c.2013dup NP_001394539.1:p.Glu672fs frameshift NM_001407611.1:c.2013dup NP_001394540.1:p.Glu672fs frameshift NM_001407612.1:c.2013dup NP_001394541.1:p.Glu672fs frameshift NM_001407613.1:c.2013dup NP_001394542.1:p.Glu672fs frameshift NM_001407614.1:c.2013dup NP_001394543.1:p.Glu672fs frameshift NM_001407615.1:c.2013dup NP_001394544.1:p.Glu672fs frameshift NM_001407616.1:c.2016dup NP_001394545.1:p.Glu673fs frameshift NM_001407617.1:c.2016dup NP_001394546.1:p.Glu673fs frameshift NM_001407618.1:c.2016dup NP_001394547.1:p.Glu673fs frameshift NM_001407619.1:c.2016dup NP_001394548.1:p.Glu673fs frameshift NM_001407620.1:c.2016dup NP_001394549.1:p.Glu673fs frameshift NM_001407621.1:c.2016dup NP_001394550.1:p.Glu673fs frameshift NM_001407622.1:c.2016dup NP_001394551.1:p.Glu673fs frameshift NM_001407623.1:c.2016dup NP_001394552.1:p.Glu673fs frameshift NM_001407624.1:c.2016dup NP_001394553.1:p.Glu673fs frameshift NM_001407625.1:c.2016dup NP_001394554.1:p.Glu673fs frameshift NM_001407626.1:c.2016dup NP_001394555.1:p.Glu673fs frameshift NM_001407627.1:c.2013dup NP_001394556.1:p.Glu672fs frameshift NM_001407628.1:c.2013dup NP_001394557.1:p.Glu672fs frameshift NM_001407629.1:c.2013dup NP_001394558.1:p.Glu672fs frameshift NM_001407630.1:c.2013dup NP_001394559.1:p.Glu672fs frameshift NM_001407631.1:c.2013dup NP_001394560.1:p.Glu672fs frameshift NM_001407632.1:c.2013dup NP_001394561.1:p.Glu672fs frameshift NM_001407633.1:c.2013dup NP_001394562.1:p.Glu672fs frameshift NM_001407634.1:c.2013dup NP_001394563.1:p.Glu672fs frameshift NM_001407635.1:c.2013dup NP_001394564.1:p.Glu672fs frameshift NM_001407636.1:c.2013dup NP_001394565.1:p.Glu672fs frameshift NM_001407637.1:c.2013dup NP_001394566.1:p.Glu672fs frameshift NM_001407638.1:c.2013dup NP_001394567.1:p.Glu672fs frameshift NM_001407639.1:c.2016dup NP_001394568.1:p.Glu673fs frameshift NM_001407640.1:c.2016dup NP_001394569.1:p.Glu673fs frameshift NM_001407641.1:c.2016dup NP_001394570.1:p.Glu673fs frameshift NM_001407642.1:c.2016dup NP_001394571.1:p.Glu673fs frameshift NM_001407644.1:c.2013dup NP_001394573.1:p.Glu672fs frameshift NM_001407645.1:c.2013dup NP_001394574.1:p.Glu672fs frameshift NM_001407646.1:c.2007dup NP_001394575.1:p.Glu670fs frameshift NM_001407647.1:c.2007dup NP_001394576.1:p.Glu670fs frameshift NM_001407648.1:c.1893dup NP_001394577.1:p.Glu632fs frameshift NM_001407649.1:c.1890dup NP_001394578.1:p.Glu631fs frameshift NM_001407652.1:c.2016dup NP_001394581.1:p.Glu673fs frameshift NM_001407653.1:c.1938dup NP_001394582.1:p.Glu647fs frameshift NM_001407654.1:c.1938dup NP_001394583.1:p.Glu647fs frameshift NM_001407655.1:c.1938dup NP_001394584.1:p.Glu647fs frameshift NM_001407656.1:c.1938dup NP_001394585.1:p.Glu647fs frameshift NM_001407657.1:c.1938dup NP_001394586.1:p.Glu647fs frameshift NM_001407658.1:c.1938dup NP_001394587.1:p.Glu647fs frameshift NM_001407659.1:c.1935dup NP_001394588.1:p.Glu646fs frameshift NM_001407660.1:c.1935dup NP_001394589.1:p.Glu646fs frameshift NM_001407661.1:c.1935dup NP_001394590.1:p.Glu646fs frameshift NM_001407662.1:c.1935dup NP_001394591.1:p.Glu646fs frameshift NM_001407663.1:c.1938dup NP_001394592.1:p.Glu647fs frameshift NM_001407664.1:c.1893dup NP_001394593.1:p.Glu632fs frameshift NM_001407665.1:c.1893dup NP_001394594.1:p.Glu632fs frameshift NM_001407666.1:c.1893dup NP_001394595.1:p.Glu632fs frameshift NM_001407667.1:c.1893dup NP_001394596.1:p.Glu632fs frameshift NM_001407668.1:c.1893dup NP_001394597.1:p.Glu632fs frameshift NM_001407669.1:c.1893dup NP_001394598.1:p.Glu632fs frameshift NM_001407670.1:c.1890dup NP_001394599.1:p.Glu631fs frameshift NM_001407671.1:c.1890dup NP_001394600.1:p.Glu631fs frameshift NM_001407672.1:c.1890dup NP_001394601.1:p.Glu631fs frameshift NM_001407673.1:c.1890dup NP_001394602.1:p.Glu631fs frameshift NM_001407674.1:c.1893dup NP_001394603.1:p.Glu632fs frameshift NM_001407675.1:c.1893dup NP_001394604.1:p.Glu632fs frameshift NM_001407676.1:c.1893dup NP_001394605.1:p.Glu632fs frameshift NM_001407677.1:c.1893dup NP_001394606.1:p.Glu632fs frameshift NM_001407678.1:c.1893dup NP_001394607.1:p.Glu632fs frameshift NM_001407679.1:c.1893dup NP_001394608.1:p.Glu632fs frameshift NM_001407680.1:c.1893dup NP_001394609.1:p.Glu632fs frameshift NM_001407681.1:c.1893dup NP_001394610.1:p.Glu632fs frameshift NM_001407682.1:c.1893dup NP_001394611.1:p.Glu632fs frameshift NM_001407683.1:c.1893dup NP_001394612.1:p.Glu632fs frameshift NM_001407684.1:c.2016dup NP_001394613.1:p.Glu673fs frameshift NM_001407685.1:c.1890dup NP_001394614.1:p.Glu631fs frameshift NM_001407686.1:c.1890dup NP_001394615.1:p.Glu631fs frameshift NM_001407687.1:c.1890dup NP_001394616.1:p.Glu631fs frameshift NM_001407688.1:c.1890dup NP_001394617.1:p.Glu631fs frameshift NM_001407689.1:c.1890dup NP_001394618.1:p.Glu631fs frameshift NM_001407690.1:c.1890dup NP_001394619.1:p.Glu631fs frameshift NM_001407691.1:c.1890dup NP_001394620.1:p.Glu631fs frameshift NM_001407692.1:c.1875dup NP_001394621.1:p.Glu626fs frameshift NM_001407694.1:c.1875dup NP_001394623.1:p.Glu626fs frameshift NM_001407695.1:c.1875dup NP_001394624.1:p.Glu626fs frameshift NM_001407696.1:c.1875dup NP_001394625.1:p.Glu626fs frameshift NM_001407697.1:c.1875dup NP_001394626.1:p.Glu626fs frameshift NM_001407698.1:c.1875dup NP_001394627.1:p.Glu626fs frameshift NM_001407724.1:c.1875dup NP_001394653.1:p.Glu626fs frameshift NM_001407725.1:c.1875dup NP_001394654.1:p.Glu626fs frameshift NM_001407726.1:c.1875dup NP_001394655.1:p.Glu626fs frameshift NM_001407727.1:c.1875dup NP_001394656.1:p.Glu626fs frameshift NM_001407728.1:c.1875dup NP_001394657.1:p.Glu626fs frameshift NM_001407729.1:c.1875dup NP_001394658.1:p.Glu626fs frameshift NM_001407730.1:c.1875dup NP_001394659.1:p.Glu626fs frameshift NM_001407731.1:c.1875dup NP_001394660.1:p.Glu626fs frameshift NM_001407732.1:c.1875dup NP_001394661.1:p.Glu626fs frameshift NM_001407733.1:c.1875dup NP_001394662.1:p.Glu626fs frameshift NM_001407734.1:c.1875dup NP_001394663.1:p.Glu626fs frameshift NM_001407735.1:c.1875dup NP_001394664.1:p.Glu626fs frameshift NM_001407736.1:c.1875dup NP_001394665.1:p.Glu626fs frameshift NM_001407737.1:c.1875dup NP_001394666.1:p.Glu626fs frameshift NM_001407738.1:c.1875dup NP_001394667.1:p.Glu626fs frameshift NM_001407739.1:c.1875dup NP_001394668.1:p.Glu626fs frameshift NM_001407740.1:c.1872dup NP_001394669.1:p.Glu625fs frameshift NM_001407741.1:c.1872dup NP_001394670.1:p.Glu625fs frameshift NM_001407742.1:c.1872dup NP_001394671.1:p.Glu625fs frameshift NM_001407743.1:c.1872dup NP_001394672.1:p.Glu625fs frameshift NM_001407744.1:c.1872dup NP_001394673.1:p.Glu625fs frameshift NM_001407745.1:c.1872dup NP_001394674.1:p.Glu625fs frameshift NM_001407746.1:c.1872dup NP_001394675.1:p.Glu625fs frameshift NM_001407747.1:c.1872dup NP_001394676.1:p.Glu625fs frameshift NM_001407748.1:c.1872dup NP_001394677.1:p.Glu625fs frameshift NM_001407749.1:c.1872dup NP_001394678.1:p.Glu625fs frameshift NM_001407750.1:c.1875dup NP_001394679.1:p.Glu626fs frameshift NM_001407751.1:c.1875dup NP_001394680.1:p.Glu626fs frameshift NM_001407752.1:c.1875dup NP_001394681.1:p.Glu626fs frameshift NM_001407838.1:c.1872dup NP_001394767.1:p.Glu625fs frameshift NM_001407839.1:c.1872dup NP_001394768.1:p.Glu625fs frameshift NM_001407841.1:c.1872dup NP_001394770.1:p.Glu625fs frameshift NM_001407842.1:c.1872dup NP_001394771.1:p.Glu625fs frameshift NM_001407843.1:c.1872dup NP_001394772.1:p.Glu625fs frameshift NM_001407844.1:c.1872dup NP_001394773.1:p.Glu625fs frameshift NM_001407845.1:c.1872dup NP_001394774.1:p.Glu625fs frameshift NM_001407846.1:c.1872dup NP_001394775.1:p.Glu625fs frameshift NM_001407847.1:c.1872dup NP_001394776.1:p.Glu625fs frameshift NM_001407848.1:c.1872dup NP_001394777.1:p.Glu625fs frameshift NM_001407849.1:c.1872dup NP_001394778.1:p.Glu625fs frameshift NM_001407850.1:c.1875dup NP_001394779.1:p.Glu626fs frameshift NM_001407851.1:c.1875dup NP_001394780.1:p.Glu626fs frameshift NM_001407852.1:c.1875dup NP_001394781.1:p.Glu626fs frameshift NM_001407853.1:c.1803dup NP_001394782.1:p.Glu602fs frameshift NM_001407854.1:c.2016dup NP_001394783.1:p.Glu673fs frameshift NM_001407858.1:c.2016dup NP_001394787.1:p.Glu673fs frameshift NM_001407859.1:c.2016dup NP_001394788.1:p.Glu673fs frameshift NM_001407860.1:c.2013dup NP_001394789.1:p.Glu672fs frameshift NM_001407861.1:c.2013dup NP_001394790.1:p.Glu672fs frameshift NM_001407862.1:c.1815dup NP_001394791.1:p.Glu606fs frameshift NM_001407863.1:c.1893dup NP_001394792.1:p.Glu632fs frameshift NM_001407874.1:c.1812dup NP_001394803.1:p.Glu605fs frameshift NM_001407875.1:c.1812dup NP_001394804.1:p.Glu605fs frameshift NM_001407879.1:c.1806dup NP_001394808.1:p.Glu603fs frameshift NM_001407881.1:c.1806dup NP_001394810.1:p.Glu603fs frameshift NM_001407882.1:c.1806dup NP_001394811.1:p.Glu603fs frameshift NM_001407884.1:c.1806dup NP_001394813.1:p.Glu603fs frameshift NM_001407885.1:c.1806dup NP_001394814.1:p.Glu603fs frameshift NM_001407886.1:c.1806dup NP_001394815.1:p.Glu603fs frameshift NM_001407887.1:c.1806dup NP_001394816.1:p.Glu603fs frameshift NM_001407889.1:c.1806dup NP_001394818.1:p.Glu603fs frameshift NM_001407894.1:c.1803dup NP_001394823.1:p.Glu602fs frameshift NM_001407895.1:c.1803dup NP_001394824.1:p.Glu602fs frameshift NM_001407896.1:c.1803dup NP_001394825.1:p.Glu602fs frameshift NM_001407897.1:c.1803dup NP_001394826.1:p.Glu602fs frameshift NM_001407898.1:c.1803dup NP_001394827.1:p.Glu602fs frameshift NM_001407899.1:c.1803dup NP_001394828.1:p.Glu602fs frameshift NM_001407900.1:c.1806dup NP_001394829.1:p.Glu603fs frameshift NM_001407902.1:c.1806dup NP_001394831.1:p.Glu603fs frameshift NM_001407904.1:c.1806dup NP_001394833.1:p.Glu603fs frameshift NM_001407906.1:c.1806dup NP_001394835.1:p.Glu603fs frameshift NM_001407907.1:c.1806dup NP_001394836.1:p.Glu603fs frameshift NM_001407908.1:c.1806dup NP_001394837.1:p.Glu603fs frameshift NM_001407909.1:c.1806dup NP_001394838.1:p.Glu603fs frameshift NM_001407910.1:c.1806dup NP_001394839.1:p.Glu603fs frameshift NM_001407915.1:c.1803dup NP_001394844.1:p.Glu602fs frameshift NM_001407916.1:c.1803dup NP_001394845.1:p.Glu602fs frameshift NM_001407917.1:c.1803dup NP_001394846.1:p.Glu602fs frameshift NM_001407918.1:c.1803dup NP_001394847.1:p.Glu602fs frameshift NM_001407919.1:c.1893dup NP_001394848.1:p.Glu632fs frameshift NM_001407920.1:c.1752dup NP_001394849.1:p.Glu585fs frameshift NM_001407921.1:c.1752dup NP_001394850.1:p.Glu585fs frameshift NM_001407922.1:c.1752dup NP_001394851.1:p.Glu585fs frameshift NM_001407923.1:c.1752dup NP_001394852.1:p.Glu585fs frameshift NM_001407924.1:c.1752dup NP_001394853.1:p.Glu585fs frameshift NM_001407925.1:c.1752dup NP_001394854.1:p.Glu585fs frameshift NM_001407926.1:c.1752dup NP_001394855.1:p.Glu585fs frameshift NM_001407927.1:c.1752dup NP_001394856.1:p.Glu585fs frameshift NM_001407928.1:c.1752dup NP_001394857.1:p.Glu585fs frameshift NM_001407929.1:c.1752dup NP_001394858.1:p.Glu585fs frameshift NM_001407930.1:c.1749dup NP_001394859.1:p.Glu584fs frameshift NM_001407931.1:c.1749dup NP_001394860.1:p.Glu584fs frameshift NM_001407932.1:c.1749dup NP_001394861.1:p.Glu584fs frameshift NM_001407933.1:c.1752dup NP_001394862.1:p.Glu585fs frameshift NM_001407934.1:c.1749dup NP_001394863.1:p.Glu584fs frameshift NM_001407935.1:c.1752dup NP_001394864.1:p.Glu585fs frameshift NM_001407936.1:c.1749dup NP_001394865.1:p.Glu584fs frameshift NM_001407937.1:c.1893dup NP_001394866.1:p.Glu632fs frameshift NM_001407938.1:c.1893dup NP_001394867.1:p.Glu632fs frameshift NM_001407939.1:c.1893dup NP_001394868.1:p.Glu632fs frameshift NM_001407940.1:c.1890dup NP_001394869.1:p.Glu631fs frameshift NM_001407941.1:c.1890dup NP_001394870.1:p.Glu631fs frameshift NM_001407942.1:c.1875dup NP_001394871.1:p.Glu626fs frameshift NM_001407943.1:c.1872dup NP_001394872.1:p.Glu625fs frameshift NM_001407944.1:c.1875dup NP_001394873.1:p.Glu626fs frameshift NM_001407945.1:c.1875dup NP_001394874.1:p.Glu626fs frameshift NM_001407946.1:c.1683dup NP_001394875.1:p.Glu562fs frameshift NM_001407947.1:c.1683dup NP_001394876.1:p.Glu562fs frameshift NM_001407948.1:c.1683dup NP_001394877.1:p.Glu562fs frameshift NM_001407949.1:c.1683dup NP_001394878.1:p.Glu562fs frameshift NM_001407950.1:c.1683dup NP_001394879.1:p.Glu562fs frameshift NM_001407951.1:c.1683dup NP_001394880.1:p.Glu562fs frameshift NM_001407952.1:c.1683dup NP_001394881.1:p.Glu562fs frameshift NM_001407953.1:c.1683dup NP_001394882.1:p.Glu562fs frameshift NM_001407954.1:c.1680dup NP_001394883.1:p.Glu561fs frameshift NM_001407955.1:c.1680dup NP_001394884.1:p.Glu561fs frameshift NM_001407956.1:c.1680dup NP_001394885.1:p.Glu561fs frameshift NM_001407957.1:c.1683dup NP_001394886.1:p.Glu562fs frameshift NM_001407958.1:c.1680dup NP_001394887.1:p.Glu561fs frameshift NM_001407959.1:c.1635dup NP_001394888.1:p.Glu546fs frameshift NM_001407960.1:c.1635dup NP_001394889.1:p.Glu546fs frameshift NM_001407962.1:c.1632dup NP_001394891.1:p.Glu545fs frameshift NM_001407963.1:c.1635dup NP_001394892.1:p.Glu546fs frameshift NM_001407964.1:c.1872dup NP_001394893.1:p.Glu625fs frameshift NM_001407965.1:c.1512dup NP_001394894.1:p.Glu505fs frameshift NM_001407966.1:c.1128dup NP_001394895.1:p.Glu377fs frameshift NM_001407967.1:c.1128dup NP_001394896.1:p.Glu377fs frameshift NM_001407968.1:c.787+1229dup intron variant NM_001407969.1:c.787+1229dup intron variant NM_001407970.1:c.787+1229dup intron variant NM_001407971.1:c.787+1229dup intron variant NM_001407972.1:c.784+1229dup intron variant NM_001407973.1:c.787+1229dup intron variant NM_001407974.1:c.787+1229dup intron variant NM_001407975.1:c.787+1229dup intron variant NM_001407976.1:c.787+1229dup intron variant NM_001407977.1:c.787+1229dup intron variant NM_001407978.1:c.787+1229dup intron variant NM_001407979.1:c.787+1229dup intron variant NM_001407980.1:c.787+1229dup intron variant NM_001407981.1:c.787+1229dup intron variant NM_001407982.1:c.787+1229dup intron variant NM_001407983.1:c.787+1229dup intron variant NM_001407984.1:c.784+1229dup intron variant NM_001407985.1:c.784+1229dup intron variant NM_001407986.1:c.784+1229dup intron variant NM_001407990.1:c.787+1229dup intron variant NM_001407991.1:c.784+1229dup intron variant NM_001407992.1:c.784+1229dup intron variant NM_001407993.1:c.787+1229dup intron variant NM_001408392.1:c.784+1229dup intron variant NM_001408396.1:c.784+1229dup intron variant NM_001408397.1:c.784+1229dup intron variant NM_001408398.1:c.784+1229dup intron variant NM_001408399.1:c.784+1229dup intron variant NM_001408400.1:c.784+1229dup intron variant NM_001408401.1:c.784+1229dup intron variant NM_001408402.1:c.784+1229dup intron variant NM_001408403.1:c.787+1229dup intron variant NM_001408404.1:c.787+1229dup intron variant NM_001408406.1:c.790+1226dup intron variant NM_001408407.1:c.784+1229dup intron variant NM_001408408.1:c.778+1229dup intron variant NM_001408409.1:c.709+1229dup intron variant NM_001408410.1:c.646+1229dup intron variant NM_001408411.1:c.709+1229dup intron variant NM_001408412.1:c.709+1229dup intron variant NM_001408413.1:c.706+1229dup intron variant NM_001408414.1:c.709+1229dup intron variant NM_001408415.1:c.709+1229dup intron variant NM_001408416.1:c.706+1229dup intron variant NM_001408418.1:c.670+2331dup intron variant NM_001408419.1:c.670+2331dup intron variant NM_001408420.1:c.670+2331dup intron variant NM_001408421.1:c.667+2331dup intron variant NM_001408422.1:c.670+2331dup intron variant NM_001408423.1:c.670+2331dup intron variant NM_001408424.1:c.667+2331dup intron variant NM_001408425.1:c.664+1229dup intron variant NM_001408426.1:c.664+1229dup intron variant NM_001408427.1:c.664+1229dup intron variant NM_001408428.1:c.664+1229dup intron variant NM_001408429.1:c.664+1229dup intron variant NM_001408430.1:c.664+1229dup intron variant NM_001408431.1:c.667+2331dup intron variant NM_001408432.1:c.661+1229dup intron variant NM_001408433.1:c.661+1229dup intron variant NM_001408434.1:c.661+1229dup intron variant NM_001408435.1:c.661+1229dup intron variant NM_001408436.1:c.664+1229dup intron variant NM_001408437.1:c.664+1229dup intron variant NM_001408438.1:c.664+1229dup intron variant NM_001408439.1:c.664+1229dup intron variant NM_001408440.1:c.664+1229dup intron variant NM_001408441.1:c.664+1229dup intron variant NM_001408442.1:c.664+1229dup intron variant NM_001408443.1:c.664+1229dup intron variant NM_001408444.1:c.664+1229dup intron variant NM_001408445.1:c.661+1229dup intron variant NM_001408446.1:c.661+1229dup intron variant NM_001408447.1:c.661+1229dup intron variant NM_001408448.1:c.661+1229dup intron variant NM_001408450.1:c.661+1229dup intron variant NM_001408451.1:c.652+1229dup intron variant NM_001408452.1:c.646+1229dup intron variant NM_001408453.1:c.646+1229dup intron variant NM_001408454.1:c.646+1229dup intron variant NM_001408455.1:c.646+1229dup intron variant NM_001408456.1:c.646+1229dup intron variant NM_001408457.1:c.646+1229dup intron variant NM_001408458.1:c.646+1229dup intron variant NM_001408459.1:c.646+1229dup intron variant NM_001408460.1:c.646+1229dup intron variant NM_001408461.1:c.646+1229dup intron variant NM_001408462.1:c.643+1229dup intron variant NM_001408463.1:c.643+1229dup intron variant NM_001408464.1:c.643+1229dup intron variant NM_001408465.1:c.643+1229dup intron variant NM_001408466.1:c.646+1229dup intron variant NM_001408467.1:c.646+1229dup intron variant NM_001408468.1:c.643+1229dup intron variant NM_001408469.1:c.646+1229dup intron variant NM_001408470.1:c.643+1229dup intron variant NM_001408472.1:c.787+1229dup intron variant NM_001408473.1:c.784+1229dup intron variant NM_001408474.1:c.586+1229dup intron variant NM_001408475.1:c.583+1229dup intron variant NM_001408476.1:c.586+1229dup intron variant NM_001408478.1:c.577+1229dup intron variant NM_001408479.1:c.577+1229dup intron variant NM_001408480.1:c.577+1229dup intron variant NM_001408481.1:c.577+1229dup intron variant NM_001408482.1:c.577+1229dup intron variant NM_001408483.1:c.577+1229dup intron variant NM_001408484.1:c.577+1229dup intron variant NM_001408485.1:c.577+1229dup intron variant NM_001408489.1:c.577+1229dup intron variant NM_001408490.1:c.574+1229dup intron variant NM_001408491.1:c.574+1229dup intron variant NM_001408492.1:c.577+1229dup intron variant NM_001408493.1:c.574+1229dup intron variant NM_001408494.1:c.548-2483dup intron variant NM_001408495.1:c.545-2483dup intron variant NM_001408496.1:c.523+1229dup intron variant NM_001408497.1:c.523+1229dup intron variant NM_001408498.1:c.523+1229dup intron variant NM_001408499.1:c.523+1229dup intron variant NM_001408500.1:c.523+1229dup intron variant NM_001408501.1:c.523+1229dup intron variant NM_001408502.1:c.454+1229dup intron variant NM_001408503.1:c.520+1229dup intron variant NM_001408504.1:c.520+1229dup intron variant NM_001408505.1:c.520+1229dup intron variant NM_001408506.1:c.460+2331dup intron variant NM_001408507.1:c.460+2331dup intron variant NM_001408508.1:c.451+1229dup intron variant NM_001408509.1:c.451+1229dup intron variant NM_001408510.1:c.406+1229dup intron variant NM_001408511.1:c.404-2483dup intron variant NM_001408512.1:c.283+1229dup intron variant NM_001408513.1:c.577+1229dup intron variant NM_001408514.1:c.577+1229dup intron variant NM_007294.3:c.2016dupA frameshift NM_007297.4:c.1875dup NP_009228.2:p.Glu626fs frameshift NM_007298.4:c.787+1229dup intron variant NM_007299.4:c.787+1229dup intron variant NM_007300.4:c.2016dup NP_009231.2:p.Glu673fs frameshift NR_027676.1:n.2150dup NC_000017.11:g.43093517dup NC_000017.10:g.41245534dup NG_005905.2:g.124469dup LRG_292:g.124469dup LRG_292t1:c.2014dup LRG_292p1:p.Glu673Argfs - Protein change
- E673fs, E626fs, E584fs, E585fs, E631fs, E647fs, E546fs, E606fs, E646fs, E672fs, E377fs, E505fs, E603fs, E670fs, E545fs, E561fs, E562fs, E602fs, E605fs, E625fs, E632fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093514:TTT:TTTT
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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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- Links
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 |
13037 | 14843 |
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) |
criteria provided, single submitter
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Sep 18, 2021 | RCV001972435.5 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 26, 2021 | RCV002423142.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 22, 2024 | RCV004571730.1 |
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
(Sep 18, 2021)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV002242640.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. … (more)
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu673Argfs*10) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). (less)
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Pathogenic
(Oct 26, 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: SCV002720329.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.2016dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 2016, causing a … (more)
The c.2016dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 2016, causing a translational frameshift with a predicted alternate stop codon (p.E673Rfs*10). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Mar 22, 2024)
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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:
unknown
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Baylor Genetics
Accession: SCV005058222.1
First in ClinVar: Jun 17, 2024 Last updated: Jun 17, 2024 |
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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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Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs2154403814 ...
HelpRecord last updated Oct 08, 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.