ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5234dup (p.Asn1745fs)
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.5234dup (p.Asn1745fs)
Variation ID: 254464 Accession: VCV000254464.7
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43057094-43057095 (GRCh38) [ NCBI UCSC ] 17: 41209111-41209112 (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 Sep 25, 2016 Nov 29, 2022 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5234dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn1745fs frameshift NM_001407571.1:c.5019dup NP_001394500.1:p.Asn1674Lysfs frameshift NM_001407581.1:c.5298dup NP_001394510.1:p.Asn1767Lysfs frameshift NM_001407582.1:c.5298dup NP_001394511.1:p.Asn1767Lysfs frameshift NM_001407583.1:c.5295dup NP_001394512.1:p.Asn1766Lysfs frameshift NM_001407585.1:c.5295dup NP_001394514.1:p.Asn1766Lysfs frameshift NM_001407587.1:c.5295dup NP_001394516.1:p.Asn1766Lysfs frameshift NM_001407590.1:c.5292dup NP_001394519.1:p.Asn1765Lysfs frameshift NM_001407591.1:c.5292dup NP_001394520.1:p.Asn1765Lysfs frameshift NM_001407593.1:c.5232dup NP_001394522.1:p.Asn1745Lysfs frameshift NM_001407594.1:c.5232dup NP_001394523.1:p.Asn1745Lysfs frameshift NM_001407596.1:c.5232dup NP_001394525.1:p.Asn1745Lysfs frameshift NM_001407597.1:c.5232dup NP_001394526.1:p.Asn1745Lysfs frameshift NM_001407598.1:c.5232dup NP_001394527.1:p.Asn1745Lysfs frameshift NM_001407602.1:c.5232dup NP_001394531.1:p.Asn1745Lysfs frameshift NM_001407603.1:c.5232dup NP_001394532.1:p.Asn1745Lysfs frameshift NM_001407605.1:c.5232dup NP_001394534.1:p.Asn1745Lysfs frameshift NM_001407610.1:c.5229dup NP_001394539.1:p.Asn1744Lysfs frameshift NM_001407611.1:c.5229dup NP_001394540.1:p.Asn1744Lysfs frameshift NM_001407612.1:c.5229dup NP_001394541.1:p.Asn1744Lysfs frameshift NM_001407613.1:c.5229dup NP_001394542.1:p.Asn1744Lysfs frameshift NM_001407614.1:c.5229dup NP_001394543.1:p.Asn1744Lysfs frameshift NM_001407615.1:c.5229dup NP_001394544.1:p.Asn1744Lysfs frameshift NM_001407616.1:c.5229dup NP_001394545.1:p.Asn1744Lysfs frameshift NM_001407617.1:c.5229dup NP_001394546.1:p.Asn1744Lysfs frameshift NM_001407618.1:c.5229dup NP_001394547.1:p.Asn1744Lysfs frameshift NM_001407619.1:c.5229dup NP_001394548.1:p.Asn1744Lysfs frameshift NM_001407620.1:c.5229dup NP_001394549.1:p.Asn1744Lysfs frameshift NM_001407621.1:c.5229dup NP_001394550.1:p.Asn1744Lysfs frameshift NM_001407622.1:c.5229dup NP_001394551.1:p.Asn1744Lysfs frameshift NM_001407623.1:c.5229dup NP_001394552.1:p.Asn1744Lysfs frameshift NM_001407624.1:c.5229dup NP_001394553.1:p.Asn1744Lysfs frameshift NM_001407625.1:c.5229dup NP_001394554.1:p.Asn1744Lysfs frameshift NM_001407626.1:c.5229dup NP_001394555.1:p.Asn1744Lysfs frameshift NM_001407627.1:c.5226dup NP_001394556.1:p.Asn1743Lysfs frameshift NM_001407628.1:c.5226dup NP_001394557.1:p.Asn1743Lysfs frameshift NM_001407629.1:c.5226dup NP_001394558.1:p.Asn1743Lysfs frameshift NM_001407630.1:c.5226dup NP_001394559.1:p.Asn1743Lysfs frameshift NM_001407631.1:c.5226dup NP_001394560.1:p.Asn1743Lysfs frameshift NM_001407632.1:c.5226dup NP_001394561.1:p.Asn1743Lysfs frameshift NM_001407633.1:c.5226dup NP_001394562.1:p.Asn1743Lysfs frameshift NM_001407634.1:c.5226dup NP_001394563.1:p.Asn1743Lysfs frameshift NM_001407635.1:c.5226dup NP_001394564.1:p.Asn1743Lysfs frameshift NM_001407636.1:c.5226dup NP_001394565.1:p.Asn1743Lysfs frameshift NM_001407637.1:c.5226dup NP_001394566.1:p.Asn1743Lysfs frameshift NM_001407638.1:c.5226dup NP_001394567.1:p.Asn1743Lysfs frameshift NM_001407639.1:c.5226dup NP_001394568.1:p.Asn1743Lysfs frameshift NM_001407640.1:c.5226dup NP_001394569.1:p.Asn1743Lysfs frameshift NM_001407641.1:c.5226dup NP_001394570.1:p.Asn1743Lysfs frameshift NM_001407642.1:c.5226dup NP_001394571.1:p.Asn1743Lysfs frameshift NM_001407644.1:c.5223dup NP_001394573.1:p.Asn1742Lysfs frameshift NM_001407645.1:c.5223dup NP_001394574.1:p.Asn1742Lysfs frameshift NM_001407646.1:c.5220dup NP_001394575.1:p.Asn1741Lysfs frameshift NM_001407647.1:c.5217dup NP_001394576.1:p.Asn1740Lysfs frameshift NM_001407648.1:c.5175dup NP_001394577.1:p.Asn1726Lysfs frameshift NM_001407649.1:c.5172dup NP_001394578.1:p.Asn1725Lysfs frameshift NM_001407652.1:c.5154dup NP_001394581.1:p.Asn1719Lysfs frameshift NM_001407653.1:c.5154dup NP_001394582.1:p.Asn1719Lysfs frameshift NM_001407654.1:c.5154dup NP_001394583.1:p.Asn1719Lysfs frameshift NM_001407655.1:c.5154dup NP_001394584.1:p.Asn1719Lysfs frameshift NM_001407656.1:c.5151dup NP_001394585.1:p.Asn1718Lysfs frameshift NM_001407657.1:c.5151dup NP_001394586.1:p.Asn1718Lysfs frameshift NM_001407658.1:c.5151dup NP_001394587.1:p.Asn1718Lysfs frameshift NM_001407659.1:c.5148dup NP_001394588.1:p.Asn1717Lysfs frameshift NM_001407660.1:c.5148dup NP_001394589.1:p.Asn1717Lysfs frameshift NM_001407661.1:c.5148dup NP_001394590.1:p.Asn1717Lysfs frameshift NM_001407662.1:c.5148dup NP_001394591.1:p.Asn1717Lysfs frameshift NM_001407663.1:c.5148dup NP_001394592.1:p.Asn1717Lysfs frameshift NM_001407664.1:c.5109dup NP_001394593.1:p.Asn1704Lysfs frameshift NM_001407665.1:c.5109dup NP_001394594.1:p.Asn1704Lysfs frameshift NM_001407666.1:c.5109dup NP_001394595.1:p.Asn1704Lysfs frameshift NM_001407667.1:c.5109dup NP_001394596.1:p.Asn1704Lysfs frameshift NM_001407668.1:c.5109dup NP_001394597.1:p.Asn1704Lysfs frameshift NM_001407669.1:c.5109dup NP_001394598.1:p.Asn1704Lysfs frameshift NM_001407670.1:c.5106dup NP_001394599.1:p.Asn1703Lysfs frameshift NM_001407671.1:c.5106dup NP_001394600.1:p.Asn1703Lysfs frameshift NM_001407672.1:c.5106dup NP_001394601.1:p.Asn1703Lysfs frameshift NM_001407673.1:c.5106dup NP_001394602.1:p.Asn1703Lysfs frameshift NM_001407674.1:c.5106dup NP_001394603.1:p.Asn1703Lysfs frameshift NM_001407675.1:c.5106dup NP_001394604.1:p.Asn1703Lysfs frameshift NM_001407676.1:c.5106dup NP_001394605.1:p.Asn1703Lysfs frameshift NM_001407677.1:c.5106dup NP_001394606.1:p.Asn1703Lysfs frameshift NM_001407678.1:c.5106dup NP_001394607.1:p.Asn1703Lysfs frameshift NM_001407679.1:c.5106dup NP_001394608.1:p.Asn1703Lysfs frameshift NM_001407680.1:c.5106dup NP_001394609.1:p.Asn1703Lysfs frameshift NM_001407681.1:c.5103dup NP_001394610.1:p.Asn1702Lysfs frameshift NM_001407682.1:c.5103dup NP_001394611.1:p.Asn1702Lysfs frameshift NM_001407683.1:c.5103dup NP_001394612.1:p.Asn1702Lysfs frameshift NM_001407684.1:c.5232dup NP_001394613.1:p.Asn1745Lysfs frameshift NM_001407685.1:c.5103dup NP_001394614.1:p.Asn1702Lysfs frameshift NM_001407686.1:c.5103dup NP_001394615.1:p.Asn1702Lysfs frameshift NM_001407687.1:c.5103dup NP_001394616.1:p.Asn1702Lysfs frameshift NM_001407688.1:c.5103dup NP_001394617.1:p.Asn1702Lysfs frameshift NM_001407689.1:c.5103dup NP_001394618.1:p.Asn1702Lysfs frameshift NM_001407690.1:c.5100dup NP_001394619.1:p.Asn1701Lysfs frameshift NM_001407691.1:c.5100dup NP_001394620.1:p.Asn1701Lysfs frameshift NM_001407692.1:c.5091dup NP_001394621.1:p.Asn1698Lysfs frameshift NM_001407694.1:c.5091dup NP_001394623.1:p.Asn1698Lysfs frameshift NM_001407695.1:c.5091dup NP_001394624.1:p.Asn1698Lysfs frameshift NM_001407696.1:c.5091dup NP_001394625.1:p.Asn1698Lysfs frameshift NM_001407697.1:c.5091dup NP_001394626.1:p.Asn1698Lysfs frameshift NM_001407698.1:c.5091dup NP_001394627.1:p.Asn1698Lysfs frameshift NM_001407724.1:c.5091dup NP_001394653.1:p.Asn1698Lysfs frameshift NM_001407725.1:c.5091dup NP_001394654.1:p.Asn1698Lysfs frameshift NM_001407726.1:c.5091dup NP_001394655.1:p.Asn1698Lysfs frameshift NM_001407727.1:c.5091dup NP_001394656.1:p.Asn1698Lysfs frameshift NM_001407728.1:c.5091dup NP_001394657.1:p.Asn1698Lysfs frameshift NM_001407729.1:c.5091dup NP_001394658.1:p.Asn1698Lysfs frameshift NM_001407730.1:c.5091dup NP_001394659.1:p.Asn1698Lysfs frameshift NM_001407731.1:c.5091dup NP_001394660.1:p.Asn1698Lysfs frameshift NM_001407732.1:c.5088dup NP_001394661.1:p.Asn1697Lysfs frameshift NM_001407733.1:c.5088dup NP_001394662.1:p.Asn1697Lysfs frameshift NM_001407734.1:c.5088dup NP_001394663.1:p.Asn1697Lysfs frameshift NM_001407735.1:c.5088dup NP_001394664.1:p.Asn1697Lysfs frameshift NM_001407736.1:c.5088dup NP_001394665.1:p.Asn1697Lysfs frameshift NM_001407737.1:c.5088dup NP_001394666.1:p.Asn1697Lysfs frameshift NM_001407738.1:c.5088dup NP_001394667.1:p.Asn1697Lysfs frameshift NM_001407739.1:c.5088dup NP_001394668.1:p.Asn1697Lysfs frameshift NM_001407740.1:c.5088dup NP_001394669.1:p.Asn1697Lysfs frameshift NM_001407741.1:c.5088dup NP_001394670.1:p.Asn1697Lysfs frameshift NM_001407742.1:c.5088dup NP_001394671.1:p.Asn1697Lysfs frameshift NM_001407743.1:c.5088dup NP_001394672.1:p.Asn1697Lysfs frameshift NM_001407744.1:c.5088dup NP_001394673.1:p.Asn1697Lysfs frameshift NM_001407745.1:c.5088dup NP_001394674.1:p.Asn1697Lysfs frameshift NM_001407746.1:c.5088dup NP_001394675.1:p.Asn1697Lysfs frameshift NM_001407747.1:c.5088dup NP_001394676.1:p.Asn1697Lysfs frameshift NM_001407748.1:c.5088dup NP_001394677.1:p.Asn1697Lysfs frameshift NM_001407749.1:c.5088dup NP_001394678.1:p.Asn1697Lysfs frameshift NM_001407750.1:c.5088dup NP_001394679.1:p.Asn1697Lysfs frameshift NM_001407751.1:c.5088dup NP_001394680.1:p.Asn1697Lysfs frameshift NM_001407752.1:c.5088dup NP_001394681.1:p.Asn1697Lysfs frameshift NM_001407838.1:c.5085dup NP_001394767.1:p.Asn1696Lysfs frameshift NM_001407839.1:c.5085dup NP_001394768.1:p.Asn1696Lysfs frameshift NM_001407841.1:c.5085dup NP_001394770.1:p.Asn1696Lysfs frameshift NM_001407842.1:c.5085dup NP_001394771.1:p.Asn1696Lysfs frameshift NM_001407843.1:c.5085dup NP_001394772.1:p.Asn1696Lysfs frameshift NM_001407844.1:c.5085dup NP_001394773.1:p.Asn1696Lysfs frameshift NM_001407845.1:c.5085dup NP_001394774.1:p.Asn1696Lysfs frameshift NM_001407846.1:c.5085dup NP_001394775.1:p.Asn1696Lysfs frameshift NM_001407847.1:c.5085dup NP_001394776.1:p.Asn1696Lysfs frameshift NM_001407848.1:c.5085dup NP_001394777.1:p.Asn1696Lysfs frameshift NM_001407849.1:c.5085dup NP_001394778.1:p.Asn1696Lysfs frameshift NM_001407850.1:c.5085dup NP_001394779.1:p.Asn1696Lysfs frameshift NM_001407851.1:c.5085dup NP_001394780.1:p.Asn1696Lysfs frameshift NM_001407852.1:c.5085dup NP_001394781.1:p.Asn1696Lysfs frameshift NM_001407853.1:c.5085dup NP_001394782.1:p.Asn1696Lysfs frameshift NM_001407854.1:c.5232dup NP_001394783.1:p.Asn1745Lysfs frameshift NM_001407858.1:c.5229dup NP_001394787.1:p.Asn1744Lysfs frameshift NM_001407859.1:c.5229dup NP_001394788.1:p.Asn1744Lysfs frameshift NM_001407860.1:c.5229dup NP_001394789.1:p.Asn1744Lysfs frameshift NM_001407861.1:c.5226dup NP_001394790.1:p.Asn1743Lysfs frameshift NM_001407862.1:c.5031dup NP_001394791.1:p.Asn1678Lysfs frameshift NM_001407863.1:c.5028dup NP_001394792.1:p.Asn1677Lysfs frameshift NM_001407874.1:c.5025dup NP_001394803.1:p.Asn1676Lysfs frameshift NM_001407875.1:c.5025dup NP_001394804.1:p.Asn1676Lysfs frameshift NM_001407879.1:c.5022dup NP_001394808.1:p.Asn1675Lysfs frameshift NM_001407881.1:c.5022dup NP_001394810.1:p.Asn1675Lysfs frameshift NM_001407882.1:c.5022dup NP_001394811.1:p.Asn1675Lysfs frameshift NM_001407884.1:c.5022dup NP_001394813.1:p.Asn1675Lysfs frameshift NM_001407885.1:c.5022dup NP_001394814.1:p.Asn1675Lysfs frameshift NM_001407886.1:c.5022dup NP_001394815.1:p.Asn1675Lysfs frameshift NM_001407887.1:c.5022dup NP_001394816.1:p.Asn1675Lysfs frameshift NM_001407889.1:c.5022dup NP_001394818.1:p.Asn1675Lysfs frameshift NM_001407894.1:c.5019dup NP_001394823.1:p.Asn1674Lysfs frameshift NM_001407895.1:c.5019dup NP_001394824.1:p.Asn1674Lysfs frameshift NM_001407896.1:c.5019dup NP_001394825.1:p.Asn1674Lysfs frameshift NM_001407897.1:c.5019dup NP_001394826.1:p.Asn1674Lysfs frameshift NM_001407898.1:c.5019dup NP_001394827.1:p.Asn1674Lysfs frameshift NM_001407899.1:c.5019dup NP_001394828.1:p.Asn1674Lysfs frameshift NM_001407900.1:c.5019dup NP_001394829.1:p.Asn1674Lysfs frameshift NM_001407902.1:c.5019dup NP_001394831.1:p.Asn1674Lysfs frameshift NM_001407904.1:c.5019dup NP_001394833.1:p.Asn1674Lysfs frameshift NM_001407906.1:c.5019dup NP_001394835.1:p.Asn1674Lysfs frameshift NM_001407907.1:c.5019dup NP_001394836.1:p.Asn1674Lysfs frameshift NM_001407908.1:c.5019dup NP_001394837.1:p.Asn1674Lysfs frameshift NM_001407909.1:c.5019dup NP_001394838.1:p.Asn1674Lysfs frameshift NM_001407910.1:c.5019dup NP_001394839.1:p.Asn1674Lysfs frameshift NM_001407915.1:c.5016dup NP_001394844.1:p.Asn1673Lysfs frameshift NM_001407916.1:c.5016dup NP_001394845.1:p.Asn1673Lysfs frameshift NM_001407917.1:c.5016dup NP_001394846.1:p.Asn1673Lysfs frameshift NM_001407918.1:c.5016dup NP_001394847.1:p.Asn1673Lysfs frameshift NM_001407919.1:c.5109dup NP_001394848.1:p.Asn1704Lysfs frameshift NM_001407920.1:c.4968dup NP_001394849.1:p.Asn1657Lysfs frameshift NM_001407921.1:c.4968dup NP_001394850.1:p.Asn1657Lysfs frameshift NM_001407922.1:c.4968dup NP_001394851.1:p.Asn1657Lysfs frameshift NM_001407923.1:c.4968dup NP_001394852.1:p.Asn1657Lysfs frameshift NM_001407924.1:c.4968dup NP_001394853.1:p.Asn1657Lysfs frameshift NM_001407925.1:c.4968dup NP_001394854.1:p.Asn1657Lysfs frameshift NM_001407926.1:c.4968dup NP_001394855.1:p.Asn1657Lysfs frameshift NM_001407927.1:c.4965dup NP_001394856.1:p.Asn1656Lysfs frameshift NM_001407928.1:c.4965dup NP_001394857.1:p.Asn1656Lysfs frameshift NM_001407929.1:c.4965dup NP_001394858.1:p.Asn1656Lysfs frameshift NM_001407930.1:c.4965dup NP_001394859.1:p.Asn1656Lysfs frameshift NM_001407931.1:c.4965dup NP_001394860.1:p.Asn1656Lysfs frameshift NM_001407932.1:c.4965dup NP_001394861.1:p.Asn1656Lysfs frameshift NM_001407933.1:c.4965dup NP_001394862.1:p.Asn1656Lysfs frameshift NM_001407934.1:c.4962dup NP_001394863.1:p.Asn1655Lysfs frameshift NM_001407935.1:c.4962dup NP_001394864.1:p.Asn1655Lysfs frameshift NM_001407936.1:c.4962dup NP_001394865.1:p.Asn1655Lysfs frameshift NM_001407937.1:c.5109dup NP_001394866.1:p.Asn1704Lysfs frameshift NM_001407938.1:c.5109dup NP_001394867.1:p.Asn1704Lysfs frameshift NM_001407939.1:c.5106dup NP_001394868.1:p.Asn1703Lysfs frameshift NM_001407940.1:c.5106dup NP_001394869.1:p.Asn1703Lysfs frameshift NM_001407941.1:c.5103dup NP_001394870.1:p.Asn1702Lysfs frameshift NM_001407942.1:c.5091dup NP_001394871.1:p.Asn1698Lysfs frameshift NM_001407943.1:c.5088dup NP_001394872.1:p.Asn1697Lysfs frameshift NM_001407944.1:c.5088dup NP_001394873.1:p.Asn1697Lysfs frameshift NM_001407945.1:c.5088dup NP_001394874.1:p.Asn1697Lysfs frameshift NM_001407946.1:c.4899dup NP_001394875.1:p.Asn1634Lysfs frameshift NM_001407947.1:c.4899dup NP_001394876.1:p.Asn1634Lysfs frameshift NM_001407948.1:c.4899dup NP_001394877.1:p.Asn1634Lysfs frameshift NM_001407949.1:c.4899dup NP_001394878.1:p.Asn1634Lysfs frameshift NM_001407950.1:c.4896dup NP_001394879.1:p.Asn1633Lysfs frameshift NM_001407951.1:c.4896dup NP_001394880.1:p.Asn1633Lysfs frameshift NM_001407952.1:c.4896dup NP_001394881.1:p.Asn1633Lysfs frameshift NM_001407953.1:c.4896dup NP_001394882.1:p.Asn1633Lysfs frameshift NM_001407954.1:c.4896dup NP_001394883.1:p.Asn1633Lysfs frameshift NM_001407955.1:c.4896dup NP_001394884.1:p.Asn1633Lysfs frameshift NM_001407956.1:c.4893dup NP_001394885.1:p.Asn1632Lysfs frameshift NM_001407957.1:c.4893dup NP_001394886.1:p.Asn1632Lysfs frameshift NM_001407958.1:c.4893dup NP_001394887.1:p.Asn1632Lysfs frameshift NM_001407959.1:c.4851dup NP_001394888.1:p.Asn1618Lysfs frameshift NM_001407960.1:c.4848dup NP_001394889.1:p.Asn1617Lysfs frameshift NM_001407962.1:c.4848dup NP_001394891.1:p.Asn1617Lysfs frameshift NM_001407963.1:c.4845dup NP_001394892.1:p.Asn1616Lysfs frameshift NM_001407964.1:c.4770dup NP_001394893.1:p.Asn1591Lysfs frameshift NM_001407965.1:c.4725dup NP_001394894.1:p.Asn1576Lysfs frameshift NM_001407966.1:c.4344dup NP_001394895.1:p.Asn1449Lysfs frameshift NM_001407967.1:c.4341dup NP_001394896.1:p.Asn1448Lysfs frameshift NM_001407968.1:c.2628dup NP_001394897.1:p.Asn877Lysfs frameshift NM_001407969.1:c.2625dup NP_001394898.1:p.Asn876Lysfs frameshift NM_001407970.1:c.1989dup NP_001394899.1:p.Asn664Lysfs frameshift NM_001407971.1:c.1989dup NP_001394900.1:p.Asn664Lysfs frameshift NM_001407972.1:c.1986dup NP_001394901.1:p.Asn663Lysfs frameshift NM_001407973.1:c.1923dup NP_001394902.1:p.Asn642Lysfs frameshift NM_001407974.1:c.1923dup NP_001394903.1:p.Asn642Lysfs frameshift NM_001407975.1:c.1923dup NP_001394904.1:p.Asn642Lysfs frameshift NM_001407976.1:c.1923dup NP_001394905.1:p.Asn642Lysfs frameshift NM_001407977.1:c.1923dup NP_001394906.1:p.Asn642Lysfs frameshift NM_001407978.1:c.1923dup NP_001394907.1:p.Asn642Lysfs frameshift NM_001407979.1:c.1920dup NP_001394908.1:p.Asn641Lysfs frameshift NM_001407980.1:c.1920dup NP_001394909.1:p.Asn641Lysfs frameshift NM_001407981.1:c.1920dup NP_001394910.1:p.Asn641Lysfs frameshift NM_001407982.1:c.1920dup NP_001394911.1:p.Asn641Lysfs frameshift NM_001407983.1:c.1920dup NP_001394912.1:p.Asn641Lysfs frameshift NM_001407984.1:c.1920dup NP_001394913.1:p.Asn641Lysfs frameshift NM_001407985.1:c.1920dup NP_001394914.1:p.Asn641Lysfs frameshift NM_001407986.1:c.1920dup NP_001394915.1:p.Asn641Lysfs frameshift NM_001407990.1:c.1920dup NP_001394919.1:p.Asn641Lysfs frameshift NM_001407991.1:c.1920dup NP_001394920.1:p.Asn641Lysfs frameshift NM_001407992.1:c.1920dup NP_001394921.1:p.Asn641Lysfs frameshift NM_001407993.1:c.1920dup NP_001394922.1:p.Asn641Lysfs frameshift NM_001408392.1:c.1917dup NP_001395321.1:p.Asn640Lysfs frameshift NM_001408396.1:c.1917dup NP_001395325.1:p.Asn640Lysfs frameshift NM_001408397.1:c.1917dup NP_001395326.1:p.Asn640Lysfs frameshift NM_001408398.1:c.1917dup NP_001395327.1:p.Asn640Lysfs frameshift NM_001408399.1:c.1917dup NP_001395328.1:p.Asn640Lysfs frameshift NM_001408400.1:c.1917dup NP_001395329.1:p.Asn640Lysfs frameshift NM_001408401.1:c.1917dup NP_001395330.1:p.Asn640Lysfs frameshift NM_001408402.1:c.1917dup NP_001395331.1:p.Asn640Lysfs frameshift NM_001408403.1:c.1917dup NP_001395332.1:p.Asn640Lysfs frameshift NM_001408404.1:c.1917dup NP_001395333.1:p.Asn640Lysfs frameshift NM_001408406.1:c.1914dup NP_001395335.1:p.Asn639Lysfs frameshift NM_001408407.1:c.1914dup NP_001395336.1:p.Asn639Lysfs frameshift NM_001408408.1:c.1914dup NP_001395337.1:p.Asn639Lysfs frameshift NM_001408409.1:c.1911dup NP_001395338.1:p.Asn638Lysfs frameshift NM_001408410.1:c.1848dup NP_001395339.1:p.Asn617Lysfs frameshift NM_001408411.1:c.1845dup NP_001395340.1:p.Asn616Lysfs frameshift NM_001408412.1:c.1842dup NP_001395341.1:p.Asn615Lysfs frameshift NM_001408413.1:c.1842dup NP_001395342.1:p.Asn615Lysfs frameshift NM_001408414.1:c.1842dup NP_001395343.1:p.Asn615Lysfs frameshift NM_001408415.1:c.1842dup NP_001395344.1:p.Asn615Lysfs frameshift NM_001408416.1:c.1842dup NP_001395345.1:p.Asn615Lysfs frameshift NM_001408418.1:c.1806dup NP_001395347.1:p.Asn603Lysfs frameshift NM_001408419.1:c.1806dup NP_001395348.1:p.Asn603Lysfs frameshift NM_001408420.1:c.1806dup NP_001395349.1:p.Asn603Lysfs frameshift NM_001408421.1:c.1803dup NP_001395350.1:p.Asn602Lysfs frameshift NM_001408422.1:c.1803dup NP_001395351.1:p.Asn602Lysfs frameshift NM_001408423.1:c.1803dup NP_001395352.1:p.Asn602Lysfs frameshift NM_001408424.1:c.1803dup NP_001395353.1:p.Asn602Lysfs frameshift NM_001408425.1:c.1800dup NP_001395354.1:p.Asn601Lysfs frameshift NM_001408426.1:c.1800dup NP_001395355.1:p.Asn601Lysfs frameshift NM_001408427.1:c.1800dup NP_001395356.1:p.Asn601Lysfs frameshift NM_001408428.1:c.1800dup NP_001395357.1:p.Asn601Lysfs frameshift NM_001408429.1:c.1800dup NP_001395358.1:p.Asn601Lysfs frameshift NM_001408430.1:c.1800dup NP_001395359.1:p.Asn601Lysfs frameshift NM_001408431.1:c.1800dup NP_001395360.1:p.Asn601Lysfs frameshift NM_001408432.1:c.1797dup NP_001395361.1:p.Asn600Lysfs frameshift NM_001408433.1:c.1797dup NP_001395362.1:p.Asn600Lysfs frameshift NM_001408434.1:c.1797dup NP_001395363.1:p.Asn600Lysfs frameshift NM_001408435.1:c.1797dup NP_001395364.1:p.Asn600Lysfs frameshift NM_001408436.1:c.1797dup NP_001395365.1:p.Asn600Lysfs frameshift NM_001408437.1:c.1797dup NP_001395366.1:p.Asn600Lysfs frameshift NM_001408438.1:c.1797dup NP_001395367.1:p.Asn600Lysfs frameshift NM_001408439.1:c.1797dup NP_001395368.1:p.Asn600Lysfs frameshift NM_001408440.1:c.1797dup NP_001395369.1:p.Asn600Lysfs frameshift NM_001408441.1:c.1797dup NP_001395370.1:p.Asn600Lysfs frameshift NM_001408442.1:c.1797dup NP_001395371.1:p.Asn600Lysfs frameshift NM_001408443.1:c.1797dup NP_001395372.1:p.Asn600Lysfs frameshift NM_001408444.1:c.1797dup NP_001395373.1:p.Asn600Lysfs frameshift NM_001408445.1:c.1794dup NP_001395374.1:p.Asn599Lysfs frameshift NM_001408446.1:c.1794dup NP_001395375.1:p.Asn599Lysfs frameshift NM_001408447.1:c.1794dup NP_001395376.1:p.Asn599Lysfs frameshift NM_001408448.1:c.1794dup NP_001395377.1:p.Asn599Lysfs frameshift NM_001408450.1:c.1794dup NP_001395379.1:p.Asn599Lysfs frameshift NM_001408451.1:c.1788dup NP_001395380.1:p.Asn597Lysfs frameshift NM_001408452.1:c.1782dup NP_001395381.1:p.Asn595Lysfs frameshift NM_001408453.1:c.1782dup NP_001395382.1:p.Asn595Lysfs frameshift NM_001408454.1:c.1782dup NP_001395383.1:p.Asn595Lysfs frameshift NM_001408455.1:c.1782dup NP_001395384.1:p.Asn595Lysfs frameshift NM_001408456.1:c.1782dup NP_001395385.1:p.Asn595Lysfs frameshift NM_001408457.1:c.1782dup NP_001395386.1:p.Asn595Lysfs frameshift NM_001408458.1:c.1779dup NP_001395387.1:p.Asn594Lysfs frameshift NM_001408459.1:c.1779dup NP_001395388.1:p.Asn594Lysfs frameshift NM_001408460.1:c.1779dup NP_001395389.1:p.Asn594Lysfs frameshift NM_001408461.1:c.1779dup NP_001395390.1:p.Asn594Lysfs frameshift NM_001408462.1:c.1779dup NP_001395391.1:p.Asn594Lysfs frameshift NM_001408463.1:c.1779dup NP_001395392.1:p.Asn594Lysfs frameshift NM_001408464.1:c.1779dup NP_001395393.1:p.Asn594Lysfs frameshift NM_001408465.1:c.1779dup NP_001395394.1:p.Asn594Lysfs frameshift NM_001408466.1:c.1779dup NP_001395395.1:p.Asn594Lysfs frameshift NM_001408467.1:c.1779dup NP_001395396.1:p.Asn594Lysfs frameshift NM_001408468.1:c.1776dup NP_001395397.1:p.Asn593Lysfs frameshift NM_001408469.1:c.1776dup NP_001395398.1:p.Asn593Lysfs frameshift NM_001408470.1:c.1776dup NP_001395399.1:p.Asn593Lysfs frameshift NM_001408472.1:c.1920dup NP_001395401.1:p.Asn641Lysfs frameshift NM_001408473.1:c.1917dup NP_001395402.1:p.Asn640Lysfs frameshift NM_001408474.1:c.1722dup NP_001395403.1:p.Asn575Lysfs frameshift NM_001408475.1:c.1719dup NP_001395404.1:p.Asn574Lysfs frameshift NM_001408476.1:c.1719dup NP_001395405.1:p.Asn574Lysfs frameshift NM_001408478.1:c.1713dup NP_001395407.1:p.Asn572Lysfs frameshift NM_001408479.1:c.1713dup NP_001395408.1:p.Asn572Lysfs frameshift NM_001408480.1:c.1713dup NP_001395409.1:p.Asn572Lysfs frameshift NM_001408481.1:c.1710dup NP_001395410.1:p.Asn571Lysfs frameshift NM_001408482.1:c.1710dup NP_001395411.1:p.Asn571Lysfs frameshift NM_001408483.1:c.1710dup NP_001395412.1:p.Asn571Lysfs frameshift NM_001408484.1:c.1710dup NP_001395413.1:p.Asn571Lysfs frameshift NM_001408485.1:c.1710dup NP_001395414.1:p.Asn571Lysfs frameshift NM_001408489.1:c.1710dup NP_001395418.1:p.Asn571Lysfs frameshift NM_001408490.1:c.1710dup NP_001395419.1:p.Asn571Lysfs frameshift NM_001408491.1:c.1710dup NP_001395420.1:p.Asn571Lysfs frameshift NM_001408492.1:c.1707dup NP_001395421.1:p.Asn570Lysfs frameshift NM_001408493.1:c.1707dup NP_001395422.1:p.Asn570Lysfs frameshift NM_001408494.1:c.1683dup NP_001395423.1:p.Asn562Lysfs frameshift NM_001408495.1:c.1677dup NP_001395424.1:p.Asn560Lysfs frameshift NM_001408496.1:c.1659dup NP_001395425.1:p.Asn554Lysfs frameshift NM_001408497.1:c.1659dup NP_001395426.1:p.Asn554Lysfs frameshift NM_001408498.1:c.1659dup NP_001395427.1:p.Asn554Lysfs frameshift NM_001408499.1:c.1659dup NP_001395428.1:p.Asn554Lysfs frameshift NM_001408500.1:c.1659dup NP_001395429.1:p.Asn554Lysfs frameshift NM_001408501.1:c.1659dup NP_001395430.1:p.Asn554Lysfs frameshift NM_001408502.1:c.1656dup NP_001395431.1:p.Asn553Lysfs frameshift NM_001408503.1:c.1656dup NP_001395432.1:p.Asn553Lysfs frameshift NM_001408504.1:c.1656dup NP_001395433.1:p.Asn553Lysfs frameshift NM_001408505.1:c.1653dup NP_001395434.1:p.Asn552Lysfs frameshift NM_001408506.1:c.1596dup NP_001395435.1:p.Asn533Lysfs frameshift NM_001408507.1:c.1593dup NP_001395436.1:p.Asn532Lysfs frameshift NM_001408508.1:c.1584dup NP_001395437.1:p.Asn529Lysfs frameshift NM_001408509.1:c.1581dup NP_001395438.1:p.Asn528Lysfs frameshift NM_001408510.1:c.1542dup NP_001395439.1:p.Asn515Lysfs frameshift NM_001408511.1:c.1539dup NP_001395440.1:p.Asn514Lysfs frameshift NM_001408512.1:c.1419dup NP_001395441.1:p.Asn474Lysfs frameshift NM_001408513.1:c.1392dup NP_001395442.1:p.Asn465Lysfs frameshift NM_001408514.1:c.996dup NP_001395443.1:p.Asn333Lysfs frameshift NM_007294.3:c.5234dupA frameshift NM_007297.4:c.5093dup NP_009228.2:p.Asn1698fs frameshift NM_007298.4:c.1920dup NP_009229.2:p.Asn641Lysfs frameshift NM_007299.4:c.1922dup NP_009230.2:p.Asn641fs frameshift NM_007300.4:c.5297dup NP_009231.2:p.Asn1766fs frameshift NM_007304.2:c.1920dup NP_009235.2:p.Asn641Lysfs frameshift NR_027676.2:n.5411dup non-coding transcript variant NC_000017.11:g.43057097dup NC_000017.10:g.41209114dup NG_005905.2:g.160889dup LRG_292:g.160889dup LRG_292t1:c.5232dup LRG_292p1:p.Asn1745Lysfs - Protein change
- N1698fs, N1745fs, N1766fs, N641fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43057094: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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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
|
Sep 8, 2016 | RCV000241122.10 | |
Pathogenic (1) |
criteria provided, single submitter
|
Feb 6, 2019 | RCV001023774.10 |
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 08, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000300225.2
First in ClinVar: Sep 25, 2016 Last updated: Sep 25, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Pathogenic
(Feb 06, 2019)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV001185693.3
First in ClinVar: Mar 16, 2020 Last updated: Nov 29, 2022 |
Comment:
The c.5234dupA pathogenic mutation, located in coding exon 18 of the BRCA1 gene, results from a duplication of A at nucleotide position 5234, causing a … (more)
The c.5234dupA pathogenic mutation, located in coding exon 18 of the BRCA1 gene, results from a duplication of A at nucleotide position 5234, causing a translational frameshift with a predicted alternate stop codon (p.N1745Kfs*85). 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)
Number of individuals with the variant: 1
|
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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The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position? | Teixeira N | European journal of human genetics : EJHG | 2018 | PMID: 29483665 |
Text-mined citations for rs886038042 ...
HelpRecord last updated Mar 23, 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.