ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5182dup (p.Met1728fs)
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.5182dup (p.Met1728fs)
Variation ID: 571641 Accession: VCV000571641.7
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43063343-43063344 (GRCh38) [ NCBI UCSC ] 17: 41215360-41215361 (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 10, 2018 Feb 14, 2024 Sep 21, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5182dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Met1728fs frameshift NM_001407571.1:c.4965dup NP_001394500.1:p.Met1657Asnfs frameshift NM_001407581.1:c.5244dup NP_001394510.1:p.Met1750Asnfs frameshift NM_001407582.1:c.5244dup NP_001394511.1:p.Met1750Asnfs frameshift NM_001407583.1:c.5241dup NP_001394512.1:p.Met1749Asnfs frameshift NM_001407585.1:c.5241dup NP_001394514.1:p.Met1749Asnfs frameshift NM_001407587.1:c.5241dup NP_001394516.1:p.Met1749Asnfs frameshift NM_001407590.1:c.5238dup NP_001394519.1:p.Met1748Asnfs frameshift NM_001407591.1:c.5238dup NP_001394520.1:p.Met1748Asnfs frameshift NM_001407593.1:c.5178dup NP_001394522.1:p.Met1728Asnfs frameshift NM_001407594.1:c.5178dup NP_001394523.1:p.Met1728Asnfs frameshift NM_001407596.1:c.5178dup NP_001394525.1:p.Met1728Asnfs frameshift NM_001407597.1:c.5178dup NP_001394526.1:p.Met1728Asnfs frameshift NM_001407598.1:c.5178dup NP_001394527.1:p.Met1728Asnfs frameshift NM_001407602.1:c.5178dup NP_001394531.1:p.Met1728Asnfs frameshift NM_001407603.1:c.5178dup NP_001394532.1:p.Met1728Asnfs frameshift NM_001407605.1:c.5178dup NP_001394534.1:p.Met1728Asnfs frameshift NM_001407610.1:c.5175dup NP_001394539.1:p.Met1727Asnfs frameshift NM_001407611.1:c.5175dup NP_001394540.1:p.Met1727Asnfs frameshift NM_001407612.1:c.5175dup NP_001394541.1:p.Met1727Asnfs frameshift NM_001407613.1:c.5175dup NP_001394542.1:p.Met1727Asnfs frameshift NM_001407614.1:c.5175dup NP_001394543.1:p.Met1727Asnfs frameshift NM_001407615.1:c.5175dup NP_001394544.1:p.Met1727Asnfs frameshift NM_001407616.1:c.5175dup NP_001394545.1:p.Met1727Asnfs frameshift NM_001407617.1:c.5175dup NP_001394546.1:p.Met1727Asnfs frameshift NM_001407618.1:c.5175dup NP_001394547.1:p.Met1727Asnfs frameshift NM_001407619.1:c.5175dup NP_001394548.1:p.Met1727Asnfs frameshift NM_001407620.1:c.5175dup NP_001394549.1:p.Met1727Asnfs frameshift NM_001407621.1:c.5175dup NP_001394550.1:p.Met1727Asnfs frameshift NM_001407622.1:c.5175dup NP_001394551.1:p.Met1727Asnfs frameshift NM_001407623.1:c.5175dup NP_001394552.1:p.Met1727Asnfs frameshift NM_001407624.1:c.5175dup NP_001394553.1:p.Met1727Asnfs frameshift NM_001407625.1:c.5175dup NP_001394554.1:p.Met1727Asnfs frameshift NM_001407626.1:c.5175dup NP_001394555.1:p.Met1727Asnfs frameshift NM_001407627.1:c.5172dup NP_001394556.1:p.Met1726Asnfs frameshift NM_001407628.1:c.5172dup NP_001394557.1:p.Met1726Asnfs frameshift NM_001407629.1:c.5172dup NP_001394558.1:p.Met1726Asnfs frameshift NM_001407630.1:c.5172dup NP_001394559.1:p.Met1726Asnfs frameshift NM_001407631.1:c.5172dup NP_001394560.1:p.Met1726Asnfs frameshift NM_001407632.1:c.5172dup NP_001394561.1:p.Met1726Asnfs frameshift NM_001407633.1:c.5172dup NP_001394562.1:p.Met1726Asnfs frameshift NM_001407634.1:c.5172dup NP_001394563.1:p.Met1726Asnfs frameshift NM_001407635.1:c.5172dup NP_001394564.1:p.Met1726Asnfs frameshift NM_001407636.1:c.5172dup NP_001394565.1:p.Met1726Asnfs frameshift NM_001407637.1:c.5172dup NP_001394566.1:p.Met1726Asnfs frameshift NM_001407638.1:c.5172dup NP_001394567.1:p.Met1726Asnfs frameshift NM_001407639.1:c.5172dup NP_001394568.1:p.Met1726Asnfs frameshift NM_001407640.1:c.5172dup NP_001394569.1:p.Met1726Asnfs frameshift NM_001407641.1:c.5172dup NP_001394570.1:p.Met1726Asnfs frameshift NM_001407642.1:c.5172dup NP_001394571.1:p.Met1726Asnfs frameshift NM_001407644.1:c.5169dup NP_001394573.1:p.Met1725Asnfs frameshift NM_001407645.1:c.5169dup NP_001394574.1:p.Met1725Asnfs frameshift NM_001407646.1:c.5166dup NP_001394575.1:p.Met1724Asnfs frameshift NM_001407647.1:c.5163dup NP_001394576.1:p.Met1723Asnfs frameshift NM_001407648.1:c.5121dup NP_001394577.1:p.Met1709Asnfs frameshift NM_001407649.1:c.5118dup NP_001394578.1:p.Met1708Asnfs frameshift NM_001407652.1:c.5100dup NP_001394581.1:p.Met1702Asnfs frameshift NM_001407653.1:c.5100dup NP_001394582.1:p.Met1702Asnfs frameshift NM_001407654.1:c.5100dup NP_001394583.1:p.Met1702Asnfs frameshift NM_001407655.1:c.5100dup NP_001394584.1:p.Met1702Asnfs frameshift NM_001407656.1:c.5097dup NP_001394585.1:p.Met1701Asnfs frameshift NM_001407657.1:c.5097dup NP_001394586.1:p.Met1701Asnfs frameshift NM_001407658.1:c.5097dup NP_001394587.1:p.Met1701Asnfs frameshift NM_001407659.1:c.5094dup NP_001394588.1:p.Met1700Asnfs frameshift NM_001407660.1:c.5094dup NP_001394589.1:p.Met1700Asnfs frameshift NM_001407661.1:c.5094dup NP_001394590.1:p.Met1700Asnfs frameshift NM_001407662.1:c.5094dup NP_001394591.1:p.Met1700Asnfs frameshift NM_001407663.1:c.5094dup NP_001394592.1:p.Met1700Asnfs frameshift NM_001407664.1:c.5055dup NP_001394593.1:p.Met1687Asnfs frameshift NM_001407665.1:c.5055dup NP_001394594.1:p.Met1687Asnfs frameshift NM_001407666.1:c.5055dup NP_001394595.1:p.Met1687Asnfs frameshift NM_001407667.1:c.5055dup NP_001394596.1:p.Met1687Asnfs frameshift NM_001407668.1:c.5055dup NP_001394597.1:p.Met1687Asnfs frameshift NM_001407669.1:c.5055dup NP_001394598.1:p.Met1687Asnfs frameshift NM_001407670.1:c.5052dup NP_001394599.1:p.Met1686Asnfs frameshift NM_001407671.1:c.5052dup NP_001394600.1:p.Met1686Asnfs frameshift NM_001407672.1:c.5052dup NP_001394601.1:p.Met1686Asnfs frameshift NM_001407673.1:c.5052dup NP_001394602.1:p.Met1686Asnfs frameshift NM_001407674.1:c.5052dup NP_001394603.1:p.Met1686Asnfs frameshift NM_001407675.1:c.5052dup NP_001394604.1:p.Met1686Asnfs frameshift NM_001407676.1:c.5052dup NP_001394605.1:p.Met1686Asnfs frameshift NM_001407677.1:c.5052dup NP_001394606.1:p.Met1686Asnfs frameshift NM_001407678.1:c.5052dup NP_001394607.1:p.Met1686Asnfs frameshift NM_001407679.1:c.5052dup NP_001394608.1:p.Met1686Asnfs frameshift NM_001407680.1:c.5052dup NP_001394609.1:p.Met1686Asnfs frameshift NM_001407681.1:c.5049dup NP_001394610.1:p.Met1685Asnfs frameshift NM_001407682.1:c.5049dup NP_001394611.1:p.Met1685Asnfs frameshift NM_001407683.1:c.5049dup NP_001394612.1:p.Met1685Asnfs frameshift NM_001407684.1:c.5178dup NP_001394613.1:p.Met1728Asnfs frameshift NM_001407685.1:c.5049dup NP_001394614.1:p.Met1685Asnfs frameshift NM_001407686.1:c.5049dup NP_001394615.1:p.Met1685Asnfs frameshift NM_001407687.1:c.5049dup NP_001394616.1:p.Met1685Asnfs frameshift NM_001407688.1:c.5049dup NP_001394617.1:p.Met1685Asnfs frameshift NM_001407689.1:c.5049dup NP_001394618.1:p.Met1685Asnfs frameshift NM_001407690.1:c.5046dup NP_001394619.1:p.Met1684Asnfs frameshift NM_001407691.1:c.5046dup NP_001394620.1:p.Met1684Asnfs frameshift NM_001407692.1:c.5037dup NP_001394621.1:p.Met1681Asnfs frameshift NM_001407694.1:c.5037dup NP_001394623.1:p.Met1681Asnfs frameshift NM_001407695.1:c.5037dup NP_001394624.1:p.Met1681Asnfs frameshift NM_001407696.1:c.5037dup NP_001394625.1:p.Met1681Asnfs frameshift NM_001407697.1:c.5037dup NP_001394626.1:p.Met1681Asnfs frameshift NM_001407698.1:c.5037dup NP_001394627.1:p.Met1681Asnfs frameshift NM_001407724.1:c.5037dup NP_001394653.1:p.Met1681Asnfs frameshift NM_001407725.1:c.5037dup NP_001394654.1:p.Met1681Asnfs frameshift NM_001407726.1:c.5037dup NP_001394655.1:p.Met1681Asnfs frameshift NM_001407727.1:c.5037dup NP_001394656.1:p.Met1681Asnfs frameshift NM_001407728.1:c.5037dup NP_001394657.1:p.Met1681Asnfs frameshift NM_001407729.1:c.5037dup NP_001394658.1:p.Met1681Asnfs frameshift NM_001407730.1:c.5037dup NP_001394659.1:p.Met1681Asnfs frameshift NM_001407731.1:c.5037dup NP_001394660.1:p.Met1681Asnfs frameshift NM_001407732.1:c.5034dup NP_001394661.1:p.Met1680Asnfs frameshift NM_001407733.1:c.5034dup NP_001394662.1:p.Met1680Asnfs frameshift NM_001407734.1:c.5034dup NP_001394663.1:p.Met1680Asnfs frameshift NM_001407735.1:c.5034dup NP_001394664.1:p.Met1680Asnfs frameshift NM_001407736.1:c.5034dup NP_001394665.1:p.Met1680Asnfs frameshift NM_001407737.1:c.5034dup NP_001394666.1:p.Met1680Asnfs frameshift NM_001407738.1:c.5034dup NP_001394667.1:p.Met1680Asnfs frameshift NM_001407739.1:c.5034dup NP_001394668.1:p.Met1680Asnfs frameshift NM_001407740.1:c.5034dup NP_001394669.1:p.Met1680Asnfs frameshift NM_001407741.1:c.5034dup NP_001394670.1:p.Met1680Asnfs frameshift NM_001407742.1:c.5034dup NP_001394671.1:p.Met1680Asnfs frameshift NM_001407743.1:c.5034dup NP_001394672.1:p.Met1680Asnfs frameshift NM_001407744.1:c.5034dup NP_001394673.1:p.Met1680Asnfs frameshift NM_001407745.1:c.5034dup NP_001394674.1:p.Met1680Asnfs frameshift NM_001407746.1:c.5034dup NP_001394675.1:p.Met1680Asnfs frameshift NM_001407747.1:c.5034dup NP_001394676.1:p.Met1680Asnfs frameshift NM_001407748.1:c.5034dup NP_001394677.1:p.Met1680Asnfs frameshift NM_001407749.1:c.5034dup NP_001394678.1:p.Met1680Asnfs frameshift NM_001407750.1:c.5034dup NP_001394679.1:p.Met1680Asnfs frameshift NM_001407751.1:c.5034dup NP_001394680.1:p.Met1680Asnfs frameshift NM_001407752.1:c.5034dup NP_001394681.1:p.Met1680Asnfs frameshift NM_001407838.1:c.5031dup NP_001394767.1:p.Met1679Asnfs frameshift NM_001407839.1:c.5031dup NP_001394768.1:p.Met1679Asnfs frameshift NM_001407841.1:c.5031dup NP_001394770.1:p.Met1679Asnfs frameshift NM_001407842.1:c.5031dup NP_001394771.1:p.Met1679Asnfs frameshift NM_001407843.1:c.5031dup NP_001394772.1:p.Met1679Asnfs frameshift NM_001407844.1:c.5031dup NP_001394773.1:p.Met1679Asnfs frameshift NM_001407845.1:c.5031dup NP_001394774.1:p.Met1679Asnfs frameshift NM_001407846.1:c.5031dup NP_001394775.1:p.Met1679Asnfs frameshift NM_001407847.1:c.5031dup NP_001394776.1:p.Met1679Asnfs frameshift NM_001407848.1:c.5031dup NP_001394777.1:p.Met1679Asnfs frameshift NM_001407849.1:c.5031dup NP_001394778.1:p.Met1679Asnfs frameshift NM_001407850.1:c.5031dup NP_001394779.1:p.Met1679Asnfs frameshift NM_001407851.1:c.5031dup NP_001394780.1:p.Met1679Asnfs frameshift NM_001407852.1:c.5031dup NP_001394781.1:p.Met1679Asnfs frameshift NM_001407853.1:c.5031dup NP_001394782.1:p.Met1679Asnfs frameshift NM_001407854.1:c.5178dup NP_001394783.1:p.Met1728Asnfs frameshift NM_001407858.1:c.5175dup NP_001394787.1:p.Met1727Asnfs frameshift NM_001407859.1:c.5175dup NP_001394788.1:p.Met1727Asnfs frameshift NM_001407860.1:c.5175dup NP_001394789.1:p.Met1727Asnfs frameshift NM_001407861.1:c.5172dup NP_001394790.1:p.Met1726Asnfs frameshift NM_001407862.1:c.4977dup NP_001394791.1:p.Met1661Asnfs frameshift NM_001407863.1:c.4974dup NP_001394792.1:p.Met1660Asnfs frameshift NM_001407874.1:c.4971dup NP_001394803.1:p.Met1659Asnfs frameshift NM_001407875.1:c.4971dup NP_001394804.1:p.Met1659Asnfs frameshift NM_001407879.1:c.4968dup NP_001394808.1:p.Met1658Asnfs frameshift NM_001407881.1:c.4968dup NP_001394810.1:p.Met1658Asnfs frameshift NM_001407882.1:c.4968dup NP_001394811.1:p.Met1658Asnfs frameshift NM_001407884.1:c.4968dup NP_001394813.1:p.Met1658Asnfs frameshift NM_001407885.1:c.4968dup NP_001394814.1:p.Met1658Asnfs frameshift NM_001407886.1:c.4968dup NP_001394815.1:p.Met1658Asnfs frameshift NM_001407887.1:c.4968dup NP_001394816.1:p.Met1658Asnfs frameshift NM_001407889.1:c.4968dup NP_001394818.1:p.Met1658Asnfs frameshift NM_001407894.1:c.4965dup NP_001394823.1:p.Met1657Asnfs frameshift NM_001407895.1:c.4965dup NP_001394824.1:p.Met1657Asnfs frameshift NM_001407896.1:c.4965dup NP_001394825.1:p.Met1657Asnfs frameshift NM_001407897.1:c.4965dup NP_001394826.1:p.Met1657Asnfs frameshift NM_001407898.1:c.4965dup NP_001394827.1:p.Met1657Asnfs frameshift NM_001407899.1:c.4965dup NP_001394828.1:p.Met1657Asnfs frameshift NM_001407900.1:c.4965dup NP_001394829.1:p.Met1657Asnfs frameshift NM_001407902.1:c.4965dup NP_001394831.1:p.Met1657Asnfs frameshift NM_001407904.1:c.4965dup NP_001394833.1:p.Met1657Asnfs frameshift NM_001407906.1:c.4965dup NP_001394835.1:p.Met1657Asnfs frameshift NM_001407907.1:c.4965dup NP_001394836.1:p.Met1657Asnfs frameshift NM_001407908.1:c.4965dup NP_001394837.1:p.Met1657Asnfs frameshift NM_001407909.1:c.4965dup NP_001394838.1:p.Met1657Asnfs frameshift NM_001407910.1:c.4965dup NP_001394839.1:p.Met1657Asnfs frameshift NM_001407915.1:c.4962dup NP_001394844.1:p.Met1656Asnfs frameshift NM_001407916.1:c.4962dup NP_001394845.1:p.Met1656Asnfs frameshift NM_001407917.1:c.4962dup NP_001394846.1:p.Met1656Asnfs frameshift NM_001407918.1:c.4962dup NP_001394847.1:p.Met1656Asnfs frameshift NM_001407919.1:c.5055dup NP_001394848.1:p.Met1687Asnfs frameshift NM_001407920.1:c.4914dup NP_001394849.1:p.Met1640Asnfs frameshift NM_001407921.1:c.4914dup NP_001394850.1:p.Met1640Asnfs frameshift NM_001407922.1:c.4914dup NP_001394851.1:p.Met1640Asnfs frameshift NM_001407923.1:c.4914dup NP_001394852.1:p.Met1640Asnfs frameshift NM_001407924.1:c.4914dup NP_001394853.1:p.Met1640Asnfs frameshift NM_001407925.1:c.4914dup NP_001394854.1:p.Met1640Asnfs frameshift NM_001407926.1:c.4914dup NP_001394855.1:p.Met1640Asnfs frameshift NM_001407927.1:c.4911dup NP_001394856.1:p.Met1639Asnfs frameshift NM_001407928.1:c.4911dup NP_001394857.1:p.Met1639Asnfs frameshift NM_001407929.1:c.4911dup NP_001394858.1:p.Met1639Asnfs frameshift NM_001407930.1:c.4911dup NP_001394859.1:p.Met1639Asnfs frameshift NM_001407931.1:c.4911dup NP_001394860.1:p.Met1639Asnfs frameshift NM_001407932.1:c.4911dup NP_001394861.1:p.Met1639Asnfs frameshift NM_001407933.1:c.4911dup NP_001394862.1:p.Met1639Asnfs frameshift NM_001407934.1:c.4908dup NP_001394863.1:p.Met1638Asnfs frameshift NM_001407935.1:c.4908dup NP_001394864.1:p.Met1638Asnfs frameshift NM_001407936.1:c.4908dup NP_001394865.1:p.Met1638Asnfs frameshift NM_001407937.1:c.5055dup NP_001394866.1:p.Met1687Asnfs frameshift NM_001407938.1:c.5055dup NP_001394867.1:p.Met1687Asnfs frameshift NM_001407939.1:c.5052dup NP_001394868.1:p.Met1686Asnfs frameshift NM_001407940.1:c.5052dup NP_001394869.1:p.Met1686Asnfs frameshift NM_001407941.1:c.5049dup NP_001394870.1:p.Met1685Asnfs frameshift NM_001407942.1:c.5037dup NP_001394871.1:p.Met1681Asnfs frameshift NM_001407943.1:c.5034dup NP_001394872.1:p.Met1680Asnfs frameshift NM_001407944.1:c.5034dup NP_001394873.1:p.Met1680Asnfs frameshift NM_001407945.1:c.5034dup NP_001394874.1:p.Met1680Asnfs frameshift NM_001407946.1:c.4845dup NP_001394875.1:p.Met1617Asnfs frameshift NM_001407947.1:c.4845dup NP_001394876.1:p.Met1617Asnfs frameshift NM_001407948.1:c.4845dup NP_001394877.1:p.Met1617Asnfs frameshift NM_001407949.1:c.4845dup NP_001394878.1:p.Met1617Asnfs frameshift NM_001407950.1:c.4842dup NP_001394879.1:p.Met1616Asnfs frameshift NM_001407951.1:c.4842dup NP_001394880.1:p.Met1616Asnfs frameshift NM_001407952.1:c.4842dup NP_001394881.1:p.Met1616Asnfs frameshift NM_001407953.1:c.4842dup NP_001394882.1:p.Met1616Asnfs frameshift NM_001407954.1:c.4842dup NP_001394883.1:p.Met1616Asnfs frameshift NM_001407955.1:c.4842dup NP_001394884.1:p.Met1616Asnfs frameshift NM_001407956.1:c.4839dup NP_001394885.1:p.Met1615Asnfs frameshift NM_001407957.1:c.4839dup NP_001394886.1:p.Met1615Asnfs frameshift NM_001407958.1:c.4839dup NP_001394887.1:p.Met1615Asnfs frameshift NM_001407959.1:c.4797dup NP_001394888.1:p.Met1601Asnfs frameshift NM_001407960.1:c.4794dup NP_001394889.1:p.Met1600Asnfs frameshift NM_001407962.1:c.4794dup NP_001394891.1:p.Met1600Asnfs frameshift NM_001407963.1:c.4791dup NP_001394892.1:p.Met1599Asnfs frameshift NM_001407964.1:c.4716dup NP_001394893.1:p.Met1574Asnfs frameshift NM_001407965.1:c.4671dup NP_001394894.1:p.Met1559Asnfs frameshift NM_001407966.1:c.4290dup NP_001394895.1:p.Met1432Asnfs frameshift NM_001407967.1:c.4287dup NP_001394896.1:p.Met1431Asnfs frameshift NM_001407968.1:c.2574dup NP_001394897.1:p.Met860Asnfs frameshift NM_001407969.1:c.2571dup NP_001394898.1:p.Met859Asnfs frameshift NM_001407970.1:c.1935dup NP_001394899.1:p.Met647Asnfs frameshift NM_001407971.1:c.1935dup NP_001394900.1:p.Met647Asnfs frameshift NM_001407972.1:c.1932dup NP_001394901.1:p.Met646Asnfs frameshift NM_001407973.1:c.1869dup NP_001394902.1:p.Met625Asnfs frameshift NM_001407974.1:c.1869dup NP_001394903.1:p.Met625Asnfs frameshift NM_001407975.1:c.1869dup NP_001394904.1:p.Met625Asnfs frameshift NM_001407976.1:c.1869dup NP_001394905.1:p.Met625Asnfs frameshift NM_001407977.1:c.1869dup NP_001394906.1:p.Met625Asnfs frameshift NM_001407978.1:c.1869dup NP_001394907.1:p.Met625Asnfs frameshift NM_001407979.1:c.1866dup NP_001394908.1:p.Met624Asnfs frameshift NM_001407980.1:c.1866dup NP_001394909.1:p.Met624Asnfs frameshift NM_001407981.1:c.1866dup NP_001394910.1:p.Met624Asnfs frameshift NM_001407982.1:c.1866dup NP_001394911.1:p.Met624Asnfs frameshift NM_001407983.1:c.1866dup NP_001394912.1:p.Met624Asnfs frameshift NM_001407984.1:c.1866dup NP_001394913.1:p.Met624Asnfs frameshift NM_001407985.1:c.1866dup NP_001394914.1:p.Met624Asnfs frameshift NM_001407986.1:c.1866dup NP_001394915.1:p.Met624Asnfs frameshift NM_001407990.1:c.1866dup NP_001394919.1:p.Met624Asnfs frameshift NM_001407991.1:c.1866dup NP_001394920.1:p.Met624Asnfs frameshift NM_001407992.1:c.1866dup NP_001394921.1:p.Met624Asnfs frameshift NM_001407993.1:c.1866dup NP_001394922.1:p.Met624Asnfs frameshift NM_001408392.1:c.1863dup NP_001395321.1:p.Met623Asnfs frameshift NM_001408396.1:c.1863dup NP_001395325.1:p.Met623Asnfs frameshift NM_001408397.1:c.1863dup NP_001395326.1:p.Met623Asnfs frameshift NM_001408398.1:c.1863dup NP_001395327.1:p.Met623Asnfs frameshift NM_001408399.1:c.1863dup NP_001395328.1:p.Met623Asnfs frameshift NM_001408400.1:c.1863dup NP_001395329.1:p.Met623Asnfs frameshift NM_001408401.1:c.1863dup NP_001395330.1:p.Met623Asnfs frameshift NM_001408402.1:c.1863dup NP_001395331.1:p.Met623Asnfs frameshift NM_001408403.1:c.1863dup NP_001395332.1:p.Met623Asnfs frameshift NM_001408404.1:c.1863dup NP_001395333.1:p.Met623Asnfs frameshift NM_001408406.1:c.1860dup NP_001395335.1:p.Met622Asnfs frameshift NM_001408407.1:c.1860dup NP_001395336.1:p.Met622Asnfs frameshift NM_001408408.1:c.1860dup NP_001395337.1:p.Met622Asnfs frameshift NM_001408409.1:c.1857dup NP_001395338.1:p.Met621Asnfs frameshift NM_001408410.1:c.1794dup NP_001395339.1:p.Met600Asnfs frameshift NM_001408411.1:c.1791dup NP_001395340.1:p.Met599Asnfs frameshift NM_001408412.1:c.1788dup NP_001395341.1:p.Met598Asnfs frameshift NM_001408413.1:c.1788dup NP_001395342.1:p.Met598Asnfs frameshift NM_001408414.1:c.1788dup NP_001395343.1:p.Met598Asnfs frameshift NM_001408415.1:c.1788dup NP_001395344.1:p.Met598Asnfs frameshift NM_001408416.1:c.1788dup NP_001395345.1:p.Met598Asnfs frameshift NM_001408418.1:c.1752dup NP_001395347.1:p.Met586Asnfs frameshift NM_001408419.1:c.1752dup NP_001395348.1:p.Met586Asnfs frameshift NM_001408420.1:c.1752dup NP_001395349.1:p.Met586Asnfs frameshift NM_001408421.1:c.1749dup NP_001395350.1:p.Met585Asnfs frameshift NM_001408422.1:c.1749dup NP_001395351.1:p.Met585Asnfs frameshift NM_001408423.1:c.1749dup NP_001395352.1:p.Met585Asnfs frameshift NM_001408424.1:c.1749dup NP_001395353.1:p.Met585Asnfs frameshift NM_001408425.1:c.1746dup NP_001395354.1:p.Met584Asnfs frameshift NM_001408426.1:c.1746dup NP_001395355.1:p.Met584Asnfs frameshift NM_001408427.1:c.1746dup NP_001395356.1:p.Met584Asnfs frameshift NM_001408428.1:c.1746dup NP_001395357.1:p.Met584Asnfs frameshift NM_001408429.1:c.1746dup NP_001395358.1:p.Met584Asnfs frameshift NM_001408430.1:c.1746dup NP_001395359.1:p.Met584Asnfs frameshift NM_001408431.1:c.1746dup NP_001395360.1:p.Met584Asnfs frameshift NM_001408432.1:c.1743dup NP_001395361.1:p.Met583Asnfs frameshift NM_001408433.1:c.1743dup NP_001395362.1:p.Met583Asnfs frameshift NM_001408434.1:c.1743dup NP_001395363.1:p.Met583Asnfs frameshift NM_001408435.1:c.1743dup NP_001395364.1:p.Met583Asnfs frameshift NM_001408436.1:c.1743dup NP_001395365.1:p.Met583Asnfs frameshift NM_001408437.1:c.1743dup NP_001395366.1:p.Met583Asnfs frameshift NM_001408438.1:c.1743dup NP_001395367.1:p.Met583Asnfs frameshift NM_001408439.1:c.1743dup NP_001395368.1:p.Met583Asnfs frameshift NM_001408440.1:c.1743dup NP_001395369.1:p.Met583Asnfs frameshift NM_001408441.1:c.1743dup NP_001395370.1:p.Met583Asnfs frameshift NM_001408442.1:c.1743dup NP_001395371.1:p.Met583Asnfs frameshift NM_001408443.1:c.1743dup NP_001395372.1:p.Met583Asnfs frameshift NM_001408444.1:c.1743dup NP_001395373.1:p.Met583Asnfs frameshift NM_001408445.1:c.1740dup NP_001395374.1:p.Met582Asnfs frameshift NM_001408446.1:c.1740dup NP_001395375.1:p.Met582Asnfs frameshift NM_001408447.1:c.1740dup NP_001395376.1:p.Met582Asnfs frameshift NM_001408448.1:c.1740dup NP_001395377.1:p.Met582Asnfs frameshift NM_001408450.1:c.1740dup NP_001395379.1:p.Met582Asnfs frameshift NM_001408451.1:c.1734dup NP_001395380.1:p.Met580Asnfs frameshift NM_001408452.1:c.1728dup NP_001395381.1:p.Met578Asnfs frameshift NM_001408453.1:c.1728dup NP_001395382.1:p.Met578Asnfs frameshift NM_001408454.1:c.1728dup NP_001395383.1:p.Met578Asnfs frameshift NM_001408455.1:c.1728dup NP_001395384.1:p.Met578Asnfs frameshift NM_001408456.1:c.1728dup NP_001395385.1:p.Met578Asnfs frameshift NM_001408457.1:c.1728dup NP_001395386.1:p.Met578Asnfs frameshift NM_001408458.1:c.1725dup NP_001395387.1:p.Met577Asnfs frameshift NM_001408459.1:c.1725dup NP_001395388.1:p.Met577Asnfs frameshift NM_001408460.1:c.1725dup NP_001395389.1:p.Met577Asnfs frameshift NM_001408461.1:c.1725dup NP_001395390.1:p.Met577Asnfs frameshift NM_001408462.1:c.1725dup NP_001395391.1:p.Met577Asnfs frameshift NM_001408463.1:c.1725dup NP_001395392.1:p.Met577Asnfs frameshift NM_001408464.1:c.1725dup NP_001395393.1:p.Met577Asnfs frameshift NM_001408465.1:c.1725dup NP_001395394.1:p.Met577Asnfs frameshift NM_001408466.1:c.1725dup NP_001395395.1:p.Met577Asnfs frameshift NM_001408467.1:c.1725dup NP_001395396.1:p.Met577Asnfs frameshift NM_001408468.1:c.1722dup NP_001395397.1:p.Met576Asnfs frameshift NM_001408469.1:c.1722dup NP_001395398.1:p.Met576Asnfs frameshift NM_001408470.1:c.1722dup NP_001395399.1:p.Met576Asnfs frameshift NM_001408472.1:c.1866dup NP_001395401.1:p.Met624Asnfs frameshift NM_001408473.1:c.1863dup NP_001395402.1:p.Met623Asnfs frameshift NM_001408474.1:c.1668dup NP_001395403.1:p.Met558Asnfs frameshift NM_001408475.1:c.1665dup NP_001395404.1:p.Met557Asnfs frameshift NM_001408476.1:c.1665dup NP_001395405.1:p.Met557Asnfs frameshift NM_001408478.1:c.1659dup NP_001395407.1:p.Met555Asnfs frameshift NM_001408479.1:c.1659dup NP_001395408.1:p.Met555Asnfs frameshift NM_001408480.1:c.1659dup NP_001395409.1:p.Met555Asnfs frameshift NM_001408481.1:c.1656dup NP_001395410.1:p.Met554Asnfs frameshift NM_001408482.1:c.1656dup NP_001395411.1:p.Met554Asnfs frameshift NM_001408483.1:c.1656dup NP_001395412.1:p.Met554Asnfs frameshift NM_001408484.1:c.1656dup NP_001395413.1:p.Met554Asnfs frameshift NM_001408485.1:c.1656dup NP_001395414.1:p.Met554Asnfs frameshift NM_001408489.1:c.1656dup NP_001395418.1:p.Met554Asnfs frameshift NM_001408490.1:c.1656dup NP_001395419.1:p.Met554Asnfs frameshift NM_001408491.1:c.1656dup NP_001395420.1:p.Met554Asnfs frameshift NM_001408492.1:c.1653dup NP_001395421.1:p.Met553Asnfs frameshift NM_001408493.1:c.1653dup NP_001395422.1:p.Met553Asnfs frameshift NM_001408494.1:c.1629dup NP_001395423.1:p.Met545Asnfs frameshift NM_001408495.1:c.1623dup NP_001395424.1:p.Met543Asnfs frameshift NM_001408496.1:c.1605dup NP_001395425.1:p.Met537Asnfs frameshift NM_001408497.1:c.1605dup NP_001395426.1:p.Met537Asnfs frameshift NM_001408498.1:c.1605dup NP_001395427.1:p.Met537Asnfs frameshift NM_001408499.1:c.1605dup NP_001395428.1:p.Met537Asnfs frameshift NM_001408500.1:c.1605dup NP_001395429.1:p.Met537Asnfs frameshift NM_001408501.1:c.1605dup NP_001395430.1:p.Met537Asnfs frameshift NM_001408502.1:c.1602dup NP_001395431.1:p.Met536Asnfs frameshift NM_001408503.1:c.1602dup NP_001395432.1:p.Met536Asnfs frameshift NM_001408504.1:c.1602dup NP_001395433.1:p.Met536Asnfs frameshift NM_001408505.1:c.1599dup NP_001395434.1:p.Met535Asnfs frameshift NM_001408506.1:c.1542dup NP_001395435.1:p.Met516Asnfs frameshift NM_001408507.1:c.1539dup NP_001395436.1:p.Met515Asnfs frameshift NM_001408508.1:c.1530dup NP_001395437.1:p.Met512Asnfs frameshift NM_001408509.1:c.1527dup NP_001395438.1:p.Met511Asnfs frameshift NM_001408510.1:c.1488dup NP_001395439.1:p.Met498Asnfs frameshift NM_001408511.1:c.1485dup NP_001395440.1:p.Met497Asnfs frameshift NM_001408512.1:c.1365dup NP_001395441.1:p.Met457Asnfs frameshift NM_001408513.1:c.1338dup NP_001395442.1:p.Met448Asnfs frameshift NM_001408514.1:c.942dup NP_001395443.1:p.Met316Asnfs frameshift NM_007294.3:c.5182dupA frameshift NM_007297.4:c.5041dup NP_009228.2:p.Met1681fs frameshift NM_007298.4:c.1866dup NP_009229.2:p.Met624Asnfs frameshift NM_007299.4:c.1870dup NP_009230.2:p.Met624fs frameshift NM_007300.4:c.5245dup NP_009231.2:p.Met1749fs frameshift NM_007304.2:c.1866dup NP_009235.2:p.Met624Asnfs frameshift NR_027676.2:n.5359dup non-coding transcript variant NC_000017.11:g.43063348dup NC_000017.10:g.41215365dup NG_005905.2:g.154640dup LRG_292:g.154640dup LRG_292t1:c.5178dup LRG_292p1:p.Met1728Asnfs - Protein change
- M624fs, M1681fs, M1749fs, M1728fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063343:TTTTT:TTTTTT
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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.
-
- 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
|
Jul 2, 2022 | RCV000692842.6 | |
Pathogenic (1) |
criteria provided, single submitter
|
Sep 21, 2023 | RCV003453452.1 |
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 21, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV004188603.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
|
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Pathogenic
(Jul 02, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000820686.4
First in ClinVar: Oct 10, 2018 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 571641). This variant has not been … (more)
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 571641). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met1728Asnfs*4) 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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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 |
---|---|---|---|---|
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 rs34570933 ...
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.