ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5553dup (p.Thr1852fs)
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.5553dup (p.Thr1852fs)
Variation ID: 55625 Accession: VCV000055625.7
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045716-43045717 (GRCh38) [ NCBI UCSC ] 17: 41197733-41197734 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 22, 2016 Feb 14, 2024 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5553dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1852fs frameshift NM_001407571.1:c.5340dup NP_001394500.1:p.Thr1781Hisfs frameshift NM_001407581.1:c.5619dup NP_001394510.1:p.Thr1874Hisfs frameshift NM_001407582.1:c.5619dup NP_001394511.1:p.Thr1874Hisfs frameshift NM_001407583.1:c.5616dup NP_001394512.1:p.Thr1873Hisfs frameshift NM_001407585.1:c.5616dup NP_001394514.1:p.Thr1873Hisfs frameshift NM_001407587.1:c.5616dup NP_001394516.1:p.Thr1873Hisfs frameshift NM_001407590.1:c.5613dup NP_001394519.1:p.Thr1872Hisfs frameshift NM_001407591.1:c.5613dup NP_001394520.1:p.Thr1872Hisfs frameshift NM_001407593.1:c.5553dup NP_001394522.1:p.Thr1852Hisfs frameshift NM_001407594.1:c.5553dup NP_001394523.1:p.Thr1852Hisfs frameshift NM_001407596.1:c.5553dup NP_001394525.1:p.Thr1852Hisfs frameshift NM_001407597.1:c.5553dup NP_001394526.1:p.Thr1852Hisfs frameshift NM_001407598.1:c.5553dup NP_001394527.1:p.Thr1852Hisfs frameshift NM_001407602.1:c.5553dup NP_001394531.1:p.Thr1852Hisfs frameshift NM_001407603.1:c.5553dup NP_001394532.1:p.Thr1852Hisfs frameshift NM_001407605.1:c.5553dup NP_001394534.1:p.Thr1852Hisfs frameshift NM_001407610.1:c.5550dup NP_001394539.1:p.Thr1851Hisfs frameshift NM_001407611.1:c.5550dup NP_001394540.1:p.Thr1851Hisfs frameshift NM_001407612.1:c.5550dup NP_001394541.1:p.Thr1851Hisfs frameshift NM_001407613.1:c.5550dup NP_001394542.1:p.Thr1851Hisfs frameshift NM_001407614.1:c.5550dup NP_001394543.1:p.Thr1851Hisfs frameshift NM_001407615.1:c.5550dup NP_001394544.1:p.Thr1851Hisfs frameshift NM_001407616.1:c.5550dup NP_001394545.1:p.Thr1851Hisfs frameshift NM_001407617.1:c.5550dup NP_001394546.1:p.Thr1851Hisfs frameshift NM_001407618.1:c.5550dup NP_001394547.1:p.Thr1851Hisfs frameshift NM_001407619.1:c.5550dup NP_001394548.1:p.Thr1851Hisfs frameshift NM_001407620.1:c.5550dup NP_001394549.1:p.Thr1851Hisfs frameshift NM_001407621.1:c.5550dup NP_001394550.1:p.Thr1851Hisfs frameshift NM_001407622.1:c.5550dup NP_001394551.1:p.Thr1851Hisfs frameshift NM_001407623.1:c.5550dup NP_001394552.1:p.Thr1851Hisfs frameshift NM_001407624.1:c.5550dup NP_001394553.1:p.Thr1851Hisfs frameshift NM_001407625.1:c.5550dup NP_001394554.1:p.Thr1851Hisfs frameshift NM_001407626.1:c.5550dup NP_001394555.1:p.Thr1851Hisfs frameshift NM_001407627.1:c.5547dup NP_001394556.1:p.Thr1850Hisfs frameshift NM_001407628.1:c.5547dup NP_001394557.1:p.Thr1850Hisfs frameshift NM_001407629.1:c.5547dup NP_001394558.1:p.Thr1850Hisfs frameshift NM_001407630.1:c.5547dup NP_001394559.1:p.Thr1850Hisfs frameshift NM_001407631.1:c.5547dup NP_001394560.1:p.Thr1850Hisfs frameshift NM_001407632.1:c.5547dup NP_001394561.1:p.Thr1850Hisfs frameshift NM_001407633.1:c.5547dup NP_001394562.1:p.Thr1850Hisfs frameshift NM_001407634.1:c.5547dup NP_001394563.1:p.Thr1850Hisfs frameshift NM_001407635.1:c.5547dup NP_001394564.1:p.Thr1850Hisfs frameshift NM_001407636.1:c.5547dup NP_001394565.1:p.Thr1850Hisfs frameshift NM_001407637.1:c.5547dup NP_001394566.1:p.Thr1850Hisfs frameshift NM_001407638.1:c.5547dup NP_001394567.1:p.Thr1850Hisfs frameshift NM_001407639.1:c.5547dup NP_001394568.1:p.Thr1850Hisfs frameshift NM_001407640.1:c.5547dup NP_001394569.1:p.Thr1850Hisfs frameshift NM_001407641.1:c.5547dup NP_001394570.1:p.Thr1850Hisfs frameshift NM_001407642.1:c.5547dup NP_001394571.1:p.Thr1850Hisfs frameshift NM_001407644.1:c.5544dup NP_001394573.1:p.Thr1849Hisfs frameshift NM_001407645.1:c.5544dup NP_001394574.1:p.Thr1849Hisfs frameshift NM_001407646.1:c.5541dup NP_001394575.1:p.Thr1848Hisfs frameshift NM_001407647.1:c.5538dup NP_001394576.1:p.Thr1847Hisfs frameshift NM_001407648.1:c.5496dup NP_001394577.1:p.Thr1833Hisfs frameshift NM_001407649.1:c.5493dup NP_001394578.1:p.Thr1832Hisfs frameshift NM_001407652.1:c.5475dup NP_001394581.1:p.Thr1826Hisfs frameshift NM_001407653.1:c.5475dup NP_001394582.1:p.Thr1826Hisfs frameshift NM_001407654.1:c.5475dup NP_001394583.1:p.Thr1826Hisfs frameshift NM_001407655.1:c.5475dup NP_001394584.1:p.Thr1826Hisfs frameshift NM_001407656.1:c.5472dup NP_001394585.1:p.Thr1825Hisfs frameshift NM_001407657.1:c.5472dup NP_001394586.1:p.Thr1825Hisfs frameshift NM_001407658.1:c.5472dup NP_001394587.1:p.Thr1825Hisfs frameshift NM_001407659.1:c.5469dup NP_001394588.1:p.Thr1824Hisfs frameshift NM_001407660.1:c.5469dup NP_001394589.1:p.Thr1824Hisfs frameshift NM_001407661.1:c.5469dup NP_001394590.1:p.Thr1824Hisfs frameshift NM_001407662.1:c.5469dup NP_001394591.1:p.Thr1824Hisfs frameshift NM_001407663.1:c.5469dup NP_001394592.1:p.Thr1824Hisfs frameshift NM_001407664.1:c.5430dup NP_001394593.1:p.Thr1811Hisfs frameshift NM_001407665.1:c.5430dup NP_001394594.1:p.Thr1811Hisfs frameshift NM_001407666.1:c.5430dup NP_001394595.1:p.Thr1811Hisfs frameshift NM_001407667.1:c.5430dup NP_001394596.1:p.Thr1811Hisfs frameshift NM_001407668.1:c.5430dup NP_001394597.1:p.Thr1811Hisfs frameshift NM_001407669.1:c.5430dup NP_001394598.1:p.Thr1811Hisfs frameshift NM_001407670.1:c.5427dup NP_001394599.1:p.Thr1810Hisfs frameshift NM_001407671.1:c.5427dup NP_001394600.1:p.Thr1810Hisfs frameshift NM_001407672.1:c.5427dup NP_001394601.1:p.Thr1810Hisfs frameshift NM_001407673.1:c.5427dup NP_001394602.1:p.Thr1810Hisfs frameshift NM_001407674.1:c.5427dup NP_001394603.1:p.Thr1810Hisfs frameshift NM_001407675.1:c.5427dup NP_001394604.1:p.Thr1810Hisfs frameshift NM_001407676.1:c.5427dup NP_001394605.1:p.Thr1810Hisfs frameshift NM_001407677.1:c.5427dup NP_001394606.1:p.Thr1810Hisfs frameshift NM_001407678.1:c.5427dup NP_001394607.1:p.Thr1810Hisfs frameshift NM_001407679.1:c.5427dup NP_001394608.1:p.Thr1810Hisfs frameshift NM_001407680.1:c.5427dup NP_001394609.1:p.Thr1810Hisfs frameshift NM_001407681.1:c.5424dup NP_001394610.1:p.Thr1809Hisfs frameshift NM_001407682.1:c.5424dup NP_001394611.1:p.Thr1809Hisfs frameshift NM_001407683.1:c.5424dup NP_001394612.1:p.Thr1809Hisfs frameshift NM_001407684.1:c.5424dup NP_001394613.1:p.Thr1809Hisfs frameshift NM_001407685.1:c.5424dup NP_001394614.1:p.Thr1809Hisfs frameshift NM_001407686.1:c.5424dup NP_001394615.1:p.Thr1809Hisfs frameshift NM_001407687.1:c.5424dup NP_001394616.1:p.Thr1809Hisfs frameshift NM_001407688.1:c.5424dup NP_001394617.1:p.Thr1809Hisfs frameshift NM_001407689.1:c.5424dup NP_001394618.1:p.Thr1809Hisfs frameshift NM_001407690.1:c.5421dup NP_001394619.1:p.Thr1808Hisfs frameshift NM_001407691.1:c.5421dup NP_001394620.1:p.Thr1808Hisfs frameshift NM_001407692.1:c.5412dup NP_001394621.1:p.Thr1805Hisfs frameshift NM_001407694.1:c.5412dup NP_001394623.1:p.Thr1805Hisfs frameshift NM_001407695.1:c.5412dup NP_001394624.1:p.Thr1805Hisfs frameshift NM_001407696.1:c.5412dup NP_001394625.1:p.Thr1805Hisfs frameshift NM_001407697.1:c.5412dup NP_001394626.1:p.Thr1805Hisfs frameshift NM_001407698.1:c.5412dup NP_001394627.1:p.Thr1805Hisfs frameshift NM_001407724.1:c.5412dup NP_001394653.1:p.Thr1805Hisfs frameshift NM_001407725.1:c.5412dup NP_001394654.1:p.Thr1805Hisfs frameshift NM_001407726.1:c.5412dup NP_001394655.1:p.Thr1805Hisfs frameshift NM_001407727.1:c.5412dup NP_001394656.1:p.Thr1805Hisfs frameshift NM_001407728.1:c.5412dup NP_001394657.1:p.Thr1805Hisfs frameshift NM_001407729.1:c.5412dup NP_001394658.1:p.Thr1805Hisfs frameshift NM_001407730.1:c.5412dup NP_001394659.1:p.Thr1805Hisfs frameshift NM_001407731.1:c.5412dup NP_001394660.1:p.Thr1805Hisfs frameshift NM_001407732.1:c.5409dup NP_001394661.1:p.Thr1804Hisfs frameshift NM_001407733.1:c.5409dup NP_001394662.1:p.Thr1804Hisfs frameshift NM_001407734.1:c.5409dup NP_001394663.1:p.Thr1804Hisfs frameshift NM_001407735.1:c.5409dup NP_001394664.1:p.Thr1804Hisfs frameshift NM_001407736.1:c.5409dup NP_001394665.1:p.Thr1804Hisfs frameshift NM_001407737.1:c.5409dup NP_001394666.1:p.Thr1804Hisfs frameshift NM_001407738.1:c.5409dup NP_001394667.1:p.Thr1804Hisfs frameshift NM_001407739.1:c.5409dup NP_001394668.1:p.Thr1804Hisfs frameshift NM_001407740.1:c.5409dup NP_001394669.1:p.Thr1804Hisfs frameshift NM_001407741.1:c.5409dup NP_001394670.1:p.Thr1804Hisfs frameshift NM_001407742.1:c.5409dup NP_001394671.1:p.Thr1804Hisfs frameshift NM_001407743.1:c.5409dup NP_001394672.1:p.Thr1804Hisfs frameshift NM_001407744.1:c.5409dup NP_001394673.1:p.Thr1804Hisfs frameshift NM_001407745.1:c.5409dup NP_001394674.1:p.Thr1804Hisfs frameshift NM_001407746.1:c.5409dup NP_001394675.1:p.Thr1804Hisfs frameshift NM_001407747.1:c.5409dup NP_001394676.1:p.Thr1804Hisfs frameshift NM_001407748.1:c.5409dup NP_001394677.1:p.Thr1804Hisfs frameshift NM_001407749.1:c.5409dup NP_001394678.1:p.Thr1804Hisfs frameshift NM_001407750.1:c.5409dup NP_001394679.1:p.Thr1804Hisfs frameshift NM_001407751.1:c.5409dup NP_001394680.1:p.Thr1804Hisfs frameshift NM_001407752.1:c.5409dup NP_001394681.1:p.Thr1804Hisfs frameshift NM_001407838.1:c.5406dup NP_001394767.1:p.Thr1803Hisfs frameshift NM_001407839.1:c.5406dup NP_001394768.1:p.Thr1803Hisfs frameshift NM_001407841.1:c.5406dup NP_001394770.1:p.Thr1803Hisfs frameshift NM_001407842.1:c.5406dup NP_001394771.1:p.Thr1803Hisfs frameshift NM_001407843.1:c.5406dup NP_001394772.1:p.Thr1803Hisfs frameshift NM_001407844.1:c.5406dup NP_001394773.1:p.Thr1803Hisfs frameshift NM_001407845.1:c.5406dup NP_001394774.1:p.Thr1803Hisfs frameshift NM_001407846.1:c.5406dup NP_001394775.1:p.Thr1803Hisfs frameshift NM_001407847.1:c.5406dup NP_001394776.1:p.Thr1803Hisfs frameshift NM_001407848.1:c.5406dup NP_001394777.1:p.Thr1803Hisfs frameshift NM_001407849.1:c.5406dup NP_001394778.1:p.Thr1803Hisfs frameshift NM_001407850.1:c.5406dup NP_001394779.1:p.Thr1803Hisfs frameshift NM_001407851.1:c.5406dup NP_001394780.1:p.Thr1803Hisfs frameshift NM_001407852.1:c.5406dup NP_001394781.1:p.Thr1803Hisfs frameshift NM_001407853.1:c.5406dup NP_001394782.1:p.Thr1803Hisfs frameshift NM_001407854.1:c.*67dup NM_001407858.1:c.*67dup NM_001407859.1:c.*67dup NM_001407860.1:c.*67dup NM_001407861.1:c.*67dup NM_001407862.1:c.5352dup NP_001394791.1:p.Thr1785Hisfs frameshift NM_001407863.1:c.5349dup NP_001394792.1:p.Thr1784Hisfs frameshift NM_001407874.1:c.5346dup NP_001394803.1:p.Thr1783Hisfs frameshift NM_001407875.1:c.5346dup NP_001394804.1:p.Thr1783Hisfs frameshift NM_001407879.1:c.5343dup NP_001394808.1:p.Thr1782Hisfs frameshift NM_001407881.1:c.5343dup NP_001394810.1:p.Thr1782Hisfs frameshift NM_001407882.1:c.5343dup NP_001394811.1:p.Thr1782Hisfs frameshift NM_001407884.1:c.5343dup NP_001394813.1:p.Thr1782Hisfs frameshift NM_001407885.1:c.5343dup NP_001394814.1:p.Thr1782Hisfs frameshift NM_001407886.1:c.5343dup NP_001394815.1:p.Thr1782Hisfs frameshift NM_001407887.1:c.5343dup NP_001394816.1:p.Thr1782Hisfs frameshift NM_001407889.1:c.5343dup NP_001394818.1:p.Thr1782Hisfs frameshift NM_001407894.1:c.5340dup NP_001394823.1:p.Thr1781Hisfs frameshift NM_001407895.1:c.5340dup NP_001394824.1:p.Thr1781Hisfs frameshift NM_001407896.1:c.5340dup NP_001394825.1:p.Thr1781Hisfs frameshift NM_001407897.1:c.5340dup NP_001394826.1:p.Thr1781Hisfs frameshift NM_001407898.1:c.5340dup NP_001394827.1:p.Thr1781Hisfs frameshift NM_001407899.1:c.5340dup NP_001394828.1:p.Thr1781Hisfs frameshift NM_001407900.1:c.5340dup NP_001394829.1:p.Thr1781Hisfs frameshift NM_001407902.1:c.5340dup NP_001394831.1:p.Thr1781Hisfs frameshift NM_001407904.1:c.5340dup NP_001394833.1:p.Thr1781Hisfs frameshift NM_001407906.1:c.5340dup NP_001394835.1:p.Thr1781Hisfs frameshift NM_001407907.1:c.5340dup NP_001394836.1:p.Thr1781Hisfs frameshift NM_001407908.1:c.5340dup NP_001394837.1:p.Thr1781Hisfs frameshift NM_001407909.1:c.5340dup NP_001394838.1:p.Thr1781Hisfs frameshift NM_001407910.1:c.5340dup NP_001394839.1:p.Thr1781Hisfs frameshift NM_001407915.1:c.5337dup NP_001394844.1:p.Thr1780Hisfs frameshift NM_001407916.1:c.5337dup NP_001394845.1:p.Thr1780Hisfs frameshift NM_001407917.1:c.5337dup NP_001394846.1:p.Thr1780Hisfs frameshift NM_001407918.1:c.5337dup NP_001394847.1:p.Thr1780Hisfs frameshift NM_001407919.1:c.5301dup NP_001394848.1:p.Thr1768Hisfs frameshift NM_001407920.1:c.5289dup NP_001394849.1:p.Thr1764Hisfs frameshift NM_001407921.1:c.5289dup NP_001394850.1:p.Thr1764Hisfs frameshift NM_001407922.1:c.5289dup NP_001394851.1:p.Thr1764Hisfs frameshift NM_001407923.1:c.5289dup NP_001394852.1:p.Thr1764Hisfs frameshift NM_001407924.1:c.5289dup NP_001394853.1:p.Thr1764Hisfs frameshift NM_001407925.1:c.5289dup NP_001394854.1:p.Thr1764Hisfs frameshift NM_001407926.1:c.5289dup NP_001394855.1:p.Thr1764Hisfs frameshift NM_001407927.1:c.5286dup NP_001394856.1:p.Thr1763Hisfs frameshift NM_001407928.1:c.5286dup NP_001394857.1:p.Thr1763Hisfs frameshift NM_001407929.1:c.5286dup NP_001394858.1:p.Thr1763Hisfs frameshift NM_001407930.1:c.5286dup NP_001394859.1:p.Thr1763Hisfs frameshift NM_001407931.1:c.5286dup NP_001394860.1:p.Thr1763Hisfs frameshift NM_001407932.1:c.5286dup NP_001394861.1:p.Thr1763Hisfs frameshift NM_001407933.1:c.5286dup NP_001394862.1:p.Thr1763Hisfs frameshift NM_001407934.1:c.5283dup NP_001394863.1:p.Thr1762Hisfs frameshift NM_001407935.1:c.5283dup NP_001394864.1:p.Thr1762Hisfs frameshift NM_001407936.1:c.5283dup NP_001394865.1:p.Thr1762Hisfs frameshift NM_001407937.1:c.*67dup NM_001407938.1:c.*67dup NM_001407939.1:c.*67dup NM_001407940.1:c.*67dup NM_001407941.1:c.*67dup NM_001407942.1:c.*67dup NM_001407943.1:c.*67dup NM_001407944.1:c.*67dup NM_001407945.1:c.*67dup NM_001407946.1:c.5220dup NP_001394875.1:p.Thr1741Hisfs frameshift NM_001407947.1:c.5220dup NP_001394876.1:p.Thr1741Hisfs frameshift NM_001407948.1:c.5220dup NP_001394877.1:p.Thr1741Hisfs frameshift NM_001407949.1:c.5220dup NP_001394878.1:p.Thr1741Hisfs frameshift NM_001407950.1:c.5217dup NP_001394879.1:p.Thr1740Hisfs frameshift NM_001407951.1:c.5217dup NP_001394880.1:p.Thr1740Hisfs frameshift NM_001407952.1:c.5217dup NP_001394881.1:p.Thr1740Hisfs frameshift NM_001407953.1:c.5217dup NP_001394882.1:p.Thr1740Hisfs frameshift NM_001407954.1:c.5217dup NP_001394883.1:p.Thr1740Hisfs frameshift NM_001407955.1:c.5217dup NP_001394884.1:p.Thr1740Hisfs frameshift NM_001407956.1:c.5214dup NP_001394885.1:p.Thr1739Hisfs frameshift NM_001407957.1:c.5214dup NP_001394886.1:p.Thr1739Hisfs frameshift NM_001407958.1:c.5214dup NP_001394887.1:p.Thr1739Hisfs frameshift NM_001407959.1:c.5172dup NP_001394888.1:p.Thr1725Hisfs frameshift NM_001407960.1:c.5169dup NP_001394889.1:p.Thr1724Hisfs frameshift NM_001407962.1:c.5169dup NP_001394891.1:p.Thr1724Hisfs frameshift NM_001407963.1:c.5166dup NP_001394892.1:p.Thr1723Hisfs frameshift NM_001407964.1:c.5091dup NP_001394893.1:p.Thr1698Hisfs frameshift NM_001407965.1:c.5046dup NP_001394894.1:p.Thr1683Hisfs frameshift NM_001407966.1:c.4665dup NP_001394895.1:p.Thr1556Hisfs frameshift NM_001407967.1:c.4662dup NP_001394896.1:p.Thr1555Hisfs frameshift NM_001407968.1:c.2949dup NP_001394897.1:p.Thr984Hisfs frameshift NM_001407969.1:c.2946dup NP_001394898.1:p.Thr983Hisfs frameshift NM_001407970.1:c.2310dup NP_001394899.1:p.Thr771Hisfs frameshift NM_001407971.1:c.2310dup NP_001394900.1:p.Thr771Hisfs frameshift NM_001407972.1:c.2307dup NP_001394901.1:p.Thr770Hisfs frameshift NM_001407973.1:c.2244dup NP_001394902.1:p.Thr749Hisfs frameshift NM_001407974.1:c.2244dup NP_001394903.1:p.Thr749Hisfs frameshift NM_001407975.1:c.2244dup NP_001394904.1:p.Thr749Hisfs frameshift NM_001407976.1:c.2244dup NP_001394905.1:p.Thr749Hisfs frameshift NM_001407977.1:c.2244dup NP_001394906.1:p.Thr749Hisfs frameshift NM_001407978.1:c.2244dup NP_001394907.1:p.Thr749Hisfs frameshift NM_001407979.1:c.2241dup NP_001394908.1:p.Thr748Hisfs frameshift NM_001407980.1:c.2241dup NP_001394909.1:p.Thr748Hisfs frameshift NM_001407981.1:c.2241dup NP_001394910.1:p.Thr748Hisfs frameshift NM_001407982.1:c.2241dup NP_001394911.1:p.Thr748Hisfs frameshift NM_001407983.1:c.2241dup NP_001394912.1:p.Thr748Hisfs frameshift NM_001407984.1:c.2241dup NP_001394913.1:p.Thr748Hisfs frameshift NM_001407985.1:c.2241dup NP_001394914.1:p.Thr748Hisfs frameshift NM_001407986.1:c.2241dup NP_001394915.1:p.Thr748Hisfs frameshift NM_001407990.1:c.2241dup NP_001394919.1:p.Thr748Hisfs frameshift NM_001407991.1:c.2241dup NP_001394920.1:p.Thr748Hisfs frameshift NM_001407992.1:c.2241dup NP_001394921.1:p.Thr748Hisfs frameshift NM_001407993.1:c.2241dup NP_001394922.1:p.Thr748Hisfs frameshift NM_001408392.1:c.2238dup NP_001395321.1:p.Thr747Hisfs frameshift NM_001408396.1:c.2238dup NP_001395325.1:p.Thr747Hisfs frameshift NM_001408397.1:c.2238dup NP_001395326.1:p.Thr747Hisfs frameshift NM_001408398.1:c.2238dup NP_001395327.1:p.Thr747Hisfs frameshift NM_001408399.1:c.2238dup NP_001395328.1:p.Thr747Hisfs frameshift NM_001408400.1:c.2238dup NP_001395329.1:p.Thr747Hisfs frameshift NM_001408401.1:c.2238dup NP_001395330.1:p.Thr747Hisfs frameshift NM_001408402.1:c.2238dup NP_001395331.1:p.Thr747Hisfs frameshift NM_001408403.1:c.2238dup NP_001395332.1:p.Thr747Hisfs frameshift NM_001408404.1:c.2238dup NP_001395333.1:p.Thr747Hisfs frameshift NM_001408406.1:c.2235dup NP_001395335.1:p.Thr746Hisfs frameshift NM_001408407.1:c.2235dup NP_001395336.1:p.Thr746Hisfs frameshift NM_001408408.1:c.2235dup NP_001395337.1:p.Thr746Hisfs frameshift NM_001408409.1:c.2232dup NP_001395338.1:p.Thr745Hisfs frameshift NM_001408410.1:c.2169dup NP_001395339.1:p.Thr724Hisfs frameshift NM_001408411.1:c.2166dup NP_001395340.1:p.Thr723Hisfs frameshift NM_001408412.1:c.2163dup NP_001395341.1:p.Thr722Hisfs frameshift NM_001408413.1:c.2163dup NP_001395342.1:p.Thr722Hisfs frameshift NM_001408414.1:c.2163dup NP_001395343.1:p.Thr722Hisfs frameshift NM_001408415.1:c.2163dup NP_001395344.1:p.Thr722Hisfs frameshift NM_001408416.1:c.2163dup NP_001395345.1:p.Thr722Hisfs frameshift NM_001408418.1:c.2127dup NP_001395347.1:p.Thr710Hisfs frameshift NM_001408419.1:c.2127dup NP_001395348.1:p.Thr710Hisfs frameshift NM_001408420.1:c.2127dup NP_001395349.1:p.Thr710Hisfs frameshift NM_001408421.1:c.2124dup NP_001395350.1:p.Thr709Hisfs frameshift NM_001408422.1:c.2124dup NP_001395351.1:p.Thr709Hisfs frameshift NM_001408423.1:c.2124dup NP_001395352.1:p.Thr709Hisfs frameshift NM_001408424.1:c.2124dup NP_001395353.1:p.Thr709Hisfs frameshift NM_001408425.1:c.2121dup NP_001395354.1:p.Thr708Hisfs frameshift NM_001408426.1:c.2121dup NP_001395355.1:p.Thr708Hisfs frameshift NM_001408427.1:c.2121dup NP_001395356.1:p.Thr708Hisfs frameshift NM_001408428.1:c.2121dup NP_001395357.1:p.Thr708Hisfs frameshift NM_001408429.1:c.2121dup NP_001395358.1:p.Thr708Hisfs frameshift NM_001408430.1:c.2121dup NP_001395359.1:p.Thr708Hisfs frameshift NM_001408431.1:c.2121dup NP_001395360.1:p.Thr708Hisfs frameshift NM_001408432.1:c.2118dup NP_001395361.1:p.Thr707Hisfs frameshift NM_001408433.1:c.2118dup NP_001395362.1:p.Thr707Hisfs frameshift NM_001408434.1:c.2118dup NP_001395363.1:p.Thr707Hisfs frameshift NM_001408435.1:c.2118dup NP_001395364.1:p.Thr707Hisfs frameshift NM_001408436.1:c.2118dup NP_001395365.1:p.Thr707Hisfs frameshift NM_001408437.1:c.2118dup NP_001395366.1:p.Thr707Hisfs frameshift NM_001408438.1:c.2118dup NP_001395367.1:p.Thr707Hisfs frameshift NM_001408439.1:c.2118dup NP_001395368.1:p.Thr707Hisfs frameshift NM_001408440.1:c.2118dup NP_001395369.1:p.Thr707Hisfs frameshift NM_001408441.1:c.2118dup NP_001395370.1:p.Thr707Hisfs frameshift NM_001408442.1:c.2118dup NP_001395371.1:p.Thr707Hisfs frameshift NM_001408443.1:c.2118dup NP_001395372.1:p.Thr707Hisfs frameshift NM_001408444.1:c.2118dup NP_001395373.1:p.Thr707Hisfs frameshift NM_001408445.1:c.2115dup NP_001395374.1:p.Thr706Hisfs frameshift NM_001408446.1:c.2115dup NP_001395375.1:p.Thr706Hisfs frameshift NM_001408447.1:c.2115dup NP_001395376.1:p.Thr706Hisfs frameshift NM_001408448.1:c.2115dup NP_001395377.1:p.Thr706Hisfs frameshift NM_001408450.1:c.2115dup NP_001395379.1:p.Thr706Hisfs frameshift NM_001408451.1:c.2109dup NP_001395380.1:p.Thr704Hisfs frameshift NM_001408452.1:c.2103dup NP_001395381.1:p.Thr702Hisfs frameshift NM_001408453.1:c.2103dup NP_001395382.1:p.Thr702Hisfs frameshift NM_001408454.1:c.2103dup NP_001395383.1:p.Thr702Hisfs frameshift NM_001408455.1:c.2103dup NP_001395384.1:p.Thr702Hisfs frameshift NM_001408456.1:c.2103dup NP_001395385.1:p.Thr702Hisfs frameshift NM_001408457.1:c.2103dup NP_001395386.1:p.Thr702Hisfs frameshift NM_001408458.1:c.2100dup NP_001395387.1:p.Thr701Hisfs frameshift NM_001408459.1:c.2100dup NP_001395388.1:p.Thr701Hisfs frameshift NM_001408460.1:c.2100dup NP_001395389.1:p.Thr701Hisfs frameshift NM_001408461.1:c.2100dup NP_001395390.1:p.Thr701Hisfs frameshift NM_001408462.1:c.2100dup NP_001395391.1:p.Thr701Hisfs frameshift NM_001408463.1:c.2100dup NP_001395392.1:p.Thr701Hisfs frameshift NM_001408464.1:c.2100dup NP_001395393.1:p.Thr701Hisfs frameshift NM_001408465.1:c.2100dup NP_001395394.1:p.Thr701Hisfs frameshift NM_001408466.1:c.2100dup NP_001395395.1:p.Thr701Hisfs frameshift NM_001408467.1:c.2100dup NP_001395396.1:p.Thr701Hisfs frameshift NM_001408468.1:c.2097dup NP_001395397.1:p.Thr700Hisfs frameshift NM_001408469.1:c.2097dup NP_001395398.1:p.Thr700Hisfs frameshift NM_001408470.1:c.2097dup NP_001395399.1:p.Thr700Hisfs frameshift NM_001408472.1:c.*67dup NM_001408473.1:c.*67dup NM_001408474.1:c.2043dup NP_001395403.1:p.Thr682Hisfs frameshift NM_001408475.1:c.2040dup NP_001395404.1:p.Thr681Hisfs frameshift NM_001408476.1:c.2040dup NP_001395405.1:p.Thr681Hisfs frameshift NM_001408478.1:c.2034dup NP_001395407.1:p.Thr679Hisfs frameshift NM_001408479.1:c.2034dup NP_001395408.1:p.Thr679Hisfs frameshift NM_001408480.1:c.2034dup NP_001395409.1:p.Thr679Hisfs frameshift NM_001408481.1:c.2031dup NP_001395410.1:p.Thr678Hisfs frameshift NM_001408482.1:c.2031dup NP_001395411.1:p.Thr678Hisfs frameshift NM_001408483.1:c.2031dup NP_001395412.1:p.Thr678Hisfs frameshift NM_001408484.1:c.2031dup NP_001395413.1:p.Thr678Hisfs frameshift NM_001408485.1:c.2031dup NP_001395414.1:p.Thr678Hisfs frameshift NM_001408489.1:c.2031dup NP_001395418.1:p.Thr678Hisfs frameshift NM_001408490.1:c.2031dup NP_001395419.1:p.Thr678Hisfs frameshift NM_001408491.1:c.2031dup NP_001395420.1:p.Thr678Hisfs frameshift NM_001408492.1:c.2028dup NP_001395421.1:p.Thr677Hisfs frameshift NM_001408493.1:c.2028dup NP_001395422.1:p.Thr677Hisfs frameshift NM_001408494.1:c.2004dup NP_001395423.1:p.Thr669Hisfs frameshift NM_001408495.1:c.1998dup NP_001395424.1:p.Thr667Hisfs frameshift NM_001408496.1:c.1980dup NP_001395425.1:p.Thr661Hisfs frameshift NM_001408497.1:c.1980dup NP_001395426.1:p.Thr661Hisfs frameshift NM_001408498.1:c.1980dup NP_001395427.1:p.Thr661Hisfs frameshift NM_001408499.1:c.1980dup NP_001395428.1:p.Thr661Hisfs frameshift NM_001408500.1:c.1980dup NP_001395429.1:p.Thr661Hisfs frameshift NM_001408501.1:c.1980dup NP_001395430.1:p.Thr661Hisfs frameshift NM_001408502.1:c.1977dup NP_001395431.1:p.Thr660Hisfs frameshift NM_001408503.1:c.1977dup NP_001395432.1:p.Thr660Hisfs frameshift NM_001408504.1:c.1977dup NP_001395433.1:p.Thr660Hisfs frameshift NM_001408505.1:c.1974dup NP_001395434.1:p.Thr659Hisfs frameshift NM_001408506.1:c.1917dup NP_001395435.1:p.Thr640Hisfs frameshift NM_001408507.1:c.1914dup NP_001395436.1:p.Thr639Hisfs frameshift NM_001408508.1:c.1905dup NP_001395437.1:p.Thr636Hisfs frameshift NM_001408509.1:c.1902dup NP_001395438.1:p.Thr635Hisfs frameshift NM_001408510.1:c.1863dup NP_001395439.1:p.Thr622Hisfs frameshift NM_001408511.1:c.1860dup NP_001395440.1:p.Thr621Hisfs frameshift NM_001408512.1:c.1740dup NP_001395441.1:p.Thr581Hisfs frameshift NM_001408513.1:c.1713dup NP_001395442.1:p.Thr572Hisfs frameshift NM_001408514.1:c.1317dup NP_001395443.1:p.Thr440Hisfs frameshift NM_007294.3:c.5553dupC frameshift NM_007297.4:c.5412dup NP_009228.2:p.Thr1805fs frameshift NM_007298.4:c.2241dup NP_009229.2:p.Thr748Hisfs frameshift NM_007299.4:c.*67dup 3 prime UTR NM_007300.4:c.5616dup NP_009231.2:p.Thr1873fs frameshift NM_007304.2:c.2241dup NP_009235.2:p.Thr748Hisfs frameshift NR_027676.2:n.5730dup non-coding transcript variant NC_000017.11:g.43045717dup NC_000017.10:g.41197734dup NG_005905.2:g.172267dup LRG_292:g.172267dup - Protein change
- T748fs, T1852fs, T1805fs, T1873fs
- Other names
- 5673insC (+15aa)
- Canonical SPDI
- NC_000017.11:43045716:G:GG
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
-
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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12752 | 14513 |
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 (3) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000256895.14 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
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Pathogenic
(Oct 18, 2016)
|
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: SCV000323890.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326359.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
Pathogenic
(Mar 02, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
BRCAlab, Lund University
Accession: SCV004243901.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs397509297 ...
HelpRecord last updated Apr 15, 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.