ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5578del (p.His1860fs)
Germline
Classification
Help
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.
(2)
Help
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.
Likely pathogenic
2
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5578del (p.His1860fs)
Variation ID: 988556 Accession: VCV000988556.23
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045692 (GRCh38) [ NCBI UCSC ] 17: 41197709 (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 Dec 11, 2020 Apr 1, 2023 Jan 5, 2018 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5578del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.His1860fs frameshift NM_001407571.1:c.5361delC NP_001394500.1:p.His1789Thrfs frameshift NM_001407581.1:c.5640delC NP_001394510.1:p.His1882Thrfs frameshift NM_001407582.1:c.5640delC NP_001394511.1:p.His1882Thrfs frameshift NM_001407583.1:c.5637delC NP_001394512.1:p.His1881Thrfs frameshift NM_001407585.1:c.5637delC NP_001394514.1:p.His1881Thrfs frameshift NM_001407587.1:c.5637delC NP_001394516.1:p.His1881Thrfs frameshift NM_001407590.1:c.5634delC NP_001394519.1:p.His1880Thrfs frameshift NM_001407591.1:c.5634delC NP_001394520.1:p.His1880Thrfs frameshift NM_001407593.1:c.5574delC NP_001394522.1:p.His1860Thrfs frameshift NM_001407594.1:c.5574delC NP_001394523.1:p.His1860Thrfs frameshift NM_001407596.1:c.5574delC NP_001394525.1:p.His1860Thrfs frameshift NM_001407597.1:c.5574delC NP_001394526.1:p.His1860Thrfs frameshift NM_001407598.1:c.5574delC NP_001394527.1:p.His1860Thrfs frameshift NM_001407602.1:c.5574delC NP_001394531.1:p.His1860Thrfs frameshift NM_001407603.1:c.5574delC NP_001394532.1:p.His1860Thrfs frameshift NM_001407605.1:c.5574delC NP_001394534.1:p.His1860Thrfs frameshift NM_001407610.1:c.5571delC NP_001394539.1:p.His1859Thrfs frameshift NM_001407611.1:c.5571delC NP_001394540.1:p.His1859Thrfs frameshift NM_001407612.1:c.5571delC NP_001394541.1:p.His1859Thrfs frameshift NM_001407613.1:c.5571delC NP_001394542.1:p.His1859Thrfs frameshift NM_001407614.1:c.5571delC NP_001394543.1:p.His1859Thrfs frameshift NM_001407615.1:c.5571delC NP_001394544.1:p.His1859Thrfs frameshift NM_001407616.1:c.5571delC NP_001394545.1:p.His1859Thrfs frameshift NM_001407617.1:c.5571delC NP_001394546.1:p.His1859Thrfs frameshift NM_001407618.1:c.5571delC NP_001394547.1:p.His1859Thrfs frameshift NM_001407619.1:c.5571delC NP_001394548.1:p.His1859Thrfs frameshift NM_001407620.1:c.5571delC NP_001394549.1:p.His1859Thrfs frameshift NM_001407621.1:c.5571delC NP_001394550.1:p.His1859Thrfs frameshift NM_001407622.1:c.5571delC NP_001394551.1:p.His1859Thrfs frameshift NM_001407623.1:c.5571delC NP_001394552.1:p.His1859Thrfs frameshift NM_001407624.1:c.5571delC NP_001394553.1:p.His1859Thrfs frameshift NM_001407625.1:c.5571delC NP_001394554.1:p.His1859Thrfs frameshift NM_001407626.1:c.5571delC NP_001394555.1:p.His1859Thrfs frameshift NM_001407627.1:c.5568delC NP_001394556.1:p.His1858Thrfs frameshift NM_001407628.1:c.5568delC NP_001394557.1:p.His1858Thrfs frameshift NM_001407629.1:c.5568delC NP_001394558.1:p.His1858Thrfs frameshift NM_001407630.1:c.5568delC NP_001394559.1:p.His1858Thrfs frameshift NM_001407631.1:c.5568delC NP_001394560.1:p.His1858Thrfs frameshift NM_001407632.1:c.5568delC NP_001394561.1:p.His1858Thrfs frameshift NM_001407633.1:c.5568delC NP_001394562.1:p.His1858Thrfs frameshift NM_001407634.1:c.5568delC NP_001394563.1:p.His1858Thrfs frameshift NM_001407635.1:c.5568delC NP_001394564.1:p.His1858Thrfs frameshift NM_001407636.1:c.5568delC NP_001394565.1:p.His1858Thrfs frameshift NM_001407637.1:c.5568delC NP_001394566.1:p.His1858Thrfs frameshift NM_001407638.1:c.5568delC NP_001394567.1:p.His1858Thrfs frameshift NM_001407639.1:c.5568delC NP_001394568.1:p.His1858Thrfs frameshift NM_001407640.1:c.5568delC NP_001394569.1:p.His1858Thrfs frameshift NM_001407641.1:c.5568delC NP_001394570.1:p.His1858Thrfs frameshift NM_001407642.1:c.5568delC NP_001394571.1:p.His1858Thrfs frameshift NM_001407644.1:c.5565delC NP_001394573.1:p.His1857Thrfs frameshift NM_001407645.1:c.5565delC NP_001394574.1:p.His1857Thrfs frameshift NM_001407646.1:c.5562delC NP_001394575.1:p.His1856Thrfs frameshift NM_001407647.1:c.5559delC NP_001394576.1:p.His1855Thrfs frameshift NM_001407648.1:c.5517delC NP_001394577.1:p.His1841Thrfs frameshift NM_001407649.1:c.5514delC NP_001394578.1:p.His1840Thrfs frameshift NM_001407652.1:c.5496delC NP_001394581.1:p.His1834Thrfs frameshift NM_001407653.1:c.5496delC NP_001394582.1:p.His1834Thrfs frameshift NM_001407654.1:c.5496delC NP_001394583.1:p.His1834Thrfs frameshift NM_001407655.1:c.5496delC NP_001394584.1:p.His1834Thrfs frameshift NM_001407656.1:c.5493delC NP_001394585.1:p.His1833Thrfs frameshift NM_001407657.1:c.5493delC NP_001394586.1:p.His1833Thrfs frameshift NM_001407658.1:c.5493delC NP_001394587.1:p.His1833Thrfs frameshift NM_001407659.1:c.5490delC NP_001394588.1:p.His1832Thrfs frameshift NM_001407660.1:c.5490delC NP_001394589.1:p.His1832Thrfs frameshift NM_001407661.1:c.5490delC NP_001394590.1:p.His1832Thrfs frameshift NM_001407662.1:c.5490delC NP_001394591.1:p.His1832Thrfs frameshift NM_001407663.1:c.5490delC NP_001394592.1:p.His1832Thrfs frameshift NM_001407664.1:c.5451delC NP_001394593.1:p.His1819Thrfs frameshift NM_001407665.1:c.5451delC NP_001394594.1:p.His1819Thrfs frameshift NM_001407666.1:c.5451delC NP_001394595.1:p.His1819Thrfs frameshift NM_001407667.1:c.5451delC NP_001394596.1:p.His1819Thrfs frameshift NM_001407668.1:c.5451delC NP_001394597.1:p.His1819Thrfs frameshift NM_001407669.1:c.5451delC NP_001394598.1:p.His1819Thrfs frameshift NM_001407670.1:c.5448delC NP_001394599.1:p.His1818Thrfs frameshift NM_001407671.1:c.5448delC NP_001394600.1:p.His1818Thrfs frameshift NM_001407672.1:c.5448delC NP_001394601.1:p.His1818Thrfs frameshift NM_001407673.1:c.5448delC NP_001394602.1:p.His1818Thrfs frameshift NM_001407674.1:c.5448delC NP_001394603.1:p.His1818Thrfs frameshift NM_001407675.1:c.5448delC NP_001394604.1:p.His1818Thrfs frameshift NM_001407676.1:c.5448delC NP_001394605.1:p.His1818Thrfs frameshift NM_001407677.1:c.5448delC NP_001394606.1:p.His1818Thrfs frameshift NM_001407678.1:c.5448delC NP_001394607.1:p.His1818Thrfs frameshift NM_001407679.1:c.5448delC NP_001394608.1:p.His1818Thrfs frameshift NM_001407680.1:c.5448delC NP_001394609.1:p.His1818Thrfs frameshift NM_001407681.1:c.5445delC NP_001394610.1:p.His1817Thrfs frameshift NM_001407682.1:c.5445delC NP_001394611.1:p.His1817Thrfs frameshift NM_001407683.1:c.5445delC NP_001394612.1:p.His1817Thrfs frameshift NM_001407684.1:c.5445delC NP_001394613.1:p.His1817Thrfs frameshift NM_001407685.1:c.5445delC NP_001394614.1:p.His1817Thrfs frameshift NM_001407686.1:c.5445delC NP_001394615.1:p.His1817Thrfs frameshift NM_001407687.1:c.5445delC NP_001394616.1:p.His1817Thrfs frameshift NM_001407688.1:c.5445delC NP_001394617.1:p.His1817Thrfs frameshift NM_001407689.1:c.5445delC NP_001394618.1:p.His1817Thrfs frameshift NM_001407690.1:c.5442delC NP_001394619.1:p.His1816Thrfs frameshift NM_001407691.1:c.5442delC NP_001394620.1:p.His1816Thrfs frameshift NM_001407692.1:c.5433delC NP_001394621.1:p.His1813Thrfs frameshift NM_001407694.1:c.5433delC NP_001394623.1:p.His1813Thrfs frameshift NM_001407695.1:c.5433delC NP_001394624.1:p.His1813Thrfs frameshift NM_001407696.1:c.5433delC NP_001394625.1:p.His1813Thrfs frameshift NM_001407697.1:c.5433delC NP_001394626.1:p.His1813Thrfs frameshift NM_001407698.1:c.5433delC NP_001394627.1:p.His1813Thrfs frameshift NM_001407724.1:c.5433delC NP_001394653.1:p.His1813Thrfs frameshift NM_001407725.1:c.5433delC NP_001394654.1:p.His1813Thrfs frameshift NM_001407726.1:c.5433delC NP_001394655.1:p.His1813Thrfs frameshift NM_001407727.1:c.5433delC NP_001394656.1:p.His1813Thrfs frameshift NM_001407728.1:c.5433delC NP_001394657.1:p.His1813Thrfs frameshift NM_001407729.1:c.5433delC NP_001394658.1:p.His1813Thrfs frameshift NM_001407730.1:c.5433delC NP_001394659.1:p.His1813Thrfs frameshift NM_001407731.1:c.5433delC NP_001394660.1:p.His1813Thrfs frameshift NM_001407732.1:c.5430delC NP_001394661.1:p.His1812Thrfs frameshift NM_001407733.1:c.5430delC NP_001394662.1:p.His1812Thrfs frameshift NM_001407734.1:c.5430delC NP_001394663.1:p.His1812Thrfs frameshift NM_001407735.1:c.5430delC NP_001394664.1:p.His1812Thrfs frameshift NM_001407736.1:c.5430delC NP_001394665.1:p.His1812Thrfs frameshift NM_001407737.1:c.5430delC NP_001394666.1:p.His1812Thrfs frameshift NM_001407738.1:c.5430delC NP_001394667.1:p.His1812Thrfs frameshift NM_001407739.1:c.5430delC NP_001394668.1:p.His1812Thrfs frameshift NM_001407740.1:c.5430delC NP_001394669.1:p.His1812Thrfs frameshift NM_001407741.1:c.5430delC NP_001394670.1:p.His1812Thrfs frameshift NM_001407742.1:c.5430delC NP_001394671.1:p.His1812Thrfs frameshift NM_001407743.1:c.5430delC NP_001394672.1:p.His1812Thrfs frameshift NM_001407744.1:c.5430delC NP_001394673.1:p.His1812Thrfs frameshift NM_001407745.1:c.5430delC NP_001394674.1:p.His1812Thrfs frameshift NM_001407746.1:c.5430delC NP_001394675.1:p.His1812Thrfs frameshift NM_001407747.1:c.5430delC NP_001394676.1:p.His1812Thrfs frameshift NM_001407748.1:c.5430delC NP_001394677.1:p.His1812Thrfs frameshift NM_001407749.1:c.5430delC NP_001394678.1:p.His1812Thrfs frameshift NM_001407750.1:c.5430delC NP_001394679.1:p.His1812Thrfs frameshift NM_001407751.1:c.5430delC NP_001394680.1:p.His1812Thrfs frameshift NM_001407752.1:c.5430delC NP_001394681.1:p.His1812Thrfs frameshift NM_001407838.1:c.5427delC NP_001394767.1:p.His1811Thrfs frameshift NM_001407839.1:c.5427delC NP_001394768.1:p.His1811Thrfs frameshift NM_001407841.1:c.5427delC NP_001394770.1:p.His1811Thrfs frameshift NM_001407842.1:c.5427delC NP_001394771.1:p.His1811Thrfs frameshift NM_001407843.1:c.5427delC NP_001394772.1:p.His1811Thrfs frameshift NM_001407844.1:c.5427delC NP_001394773.1:p.His1811Thrfs frameshift NM_001407845.1:c.5427delC NP_001394774.1:p.His1811Thrfs frameshift NM_001407846.1:c.5427delC NP_001394775.1:p.His1811Thrfs frameshift NM_001407847.1:c.5427delC NP_001394776.1:p.His1811Thrfs frameshift NM_001407848.1:c.5427delC NP_001394777.1:p.His1811Thrfs frameshift NM_001407849.1:c.5427delC NP_001394778.1:p.His1811Thrfs frameshift NM_001407850.1:c.5427delC NP_001394779.1:p.His1811Thrfs frameshift NM_001407851.1:c.5427delC NP_001394780.1:p.His1811Thrfs frameshift NM_001407852.1:c.5427delC NP_001394781.1:p.His1811Thrfs frameshift NM_001407853.1:c.5427delC NP_001394782.1:p.His1811Thrfs frameshift NM_001407854.1:c.*88delC NM_001407858.1:c.*88delC NM_001407859.1:c.*88delC NM_001407860.1:c.*88delC NM_001407861.1:c.*88delC NM_001407862.1:c.5373delC NP_001394791.1:p.His1793Thrfs frameshift NM_001407863.1:c.5370delC NP_001394792.1:p.His1792Thrfs frameshift NM_001407874.1:c.5367delC NP_001394803.1:p.His1791Thrfs frameshift NM_001407875.1:c.5367delC NP_001394804.1:p.His1791Thrfs frameshift NM_001407879.1:c.5364delC NP_001394808.1:p.His1790Thrfs frameshift NM_001407881.1:c.5364delC NP_001394810.1:p.His1790Thrfs frameshift NM_001407882.1:c.5364delC NP_001394811.1:p.His1790Thrfs frameshift NM_001407884.1:c.5364delC NP_001394813.1:p.His1790Thrfs frameshift NM_001407885.1:c.5364delC NP_001394814.1:p.His1790Thrfs frameshift NM_001407886.1:c.5364delC NP_001394815.1:p.His1790Thrfs frameshift NM_001407887.1:c.5364delC NP_001394816.1:p.His1790Thrfs frameshift NM_001407889.1:c.5364delC NP_001394818.1:p.His1790Thrfs frameshift NM_001407894.1:c.5361delC NP_001394823.1:p.His1789Thrfs frameshift NM_001407895.1:c.5361delC NP_001394824.1:p.His1789Thrfs frameshift NM_001407896.1:c.5361delC NP_001394825.1:p.His1789Thrfs frameshift NM_001407897.1:c.5361delC NP_001394826.1:p.His1789Thrfs frameshift NM_001407898.1:c.5361delC NP_001394827.1:p.His1789Thrfs frameshift NM_001407899.1:c.5361delC NP_001394828.1:p.His1789Thrfs frameshift NM_001407900.1:c.5361delC NP_001394829.1:p.His1789Thrfs frameshift NM_001407902.1:c.5361delC NP_001394831.1:p.His1789Thrfs frameshift NM_001407904.1:c.5361delC NP_001394833.1:p.His1789Thrfs frameshift NM_001407906.1:c.5361delC NP_001394835.1:p.His1789Thrfs frameshift NM_001407907.1:c.5361delC NP_001394836.1:p.His1789Thrfs frameshift NM_001407908.1:c.5361delC NP_001394837.1:p.His1789Thrfs frameshift NM_001407909.1:c.5361delC NP_001394838.1:p.His1789Thrfs frameshift NM_001407910.1:c.5361delC NP_001394839.1:p.His1789Thrfs frameshift NM_001407915.1:c.5358delC NP_001394844.1:p.His1788Thrfs frameshift NM_001407916.1:c.5358delC NP_001394845.1:p.His1788Thrfs frameshift NM_001407917.1:c.5358delC NP_001394846.1:p.His1788Thrfs frameshift NM_001407918.1:c.5358delC NP_001394847.1:p.His1788Thrfs frameshift NM_001407919.1:c.5322delC NP_001394848.1:p.His1776Thrfs frameshift NM_001407920.1:c.5310delC NP_001394849.1:p.His1772Thrfs frameshift NM_001407921.1:c.5310delC NP_001394850.1:p.His1772Thrfs frameshift NM_001407922.1:c.5310delC NP_001394851.1:p.His1772Thrfs frameshift NM_001407923.1:c.5310delC NP_001394852.1:p.His1772Thrfs frameshift NM_001407924.1:c.5310delC NP_001394853.1:p.His1772Thrfs frameshift NM_001407925.1:c.5310delC NP_001394854.1:p.His1772Thrfs frameshift NM_001407926.1:c.5310delC NP_001394855.1:p.His1772Thrfs frameshift NM_001407927.1:c.5307delC NP_001394856.1:p.His1771Thrfs frameshift NM_001407928.1:c.5307delC NP_001394857.1:p.His1771Thrfs frameshift NM_001407929.1:c.5307delC NP_001394858.1:p.His1771Thrfs frameshift NM_001407930.1:c.5307delC NP_001394859.1:p.His1771Thrfs frameshift NM_001407931.1:c.5307delC NP_001394860.1:p.His1771Thrfs frameshift NM_001407932.1:c.5307delC NP_001394861.1:p.His1771Thrfs frameshift NM_001407933.1:c.5307delC NP_001394862.1:p.His1771Thrfs frameshift NM_001407934.1:c.5304delC NP_001394863.1:p.His1770Thrfs frameshift NM_001407935.1:c.5304delC NP_001394864.1:p.His1770Thrfs frameshift NM_001407936.1:c.5304delC NP_001394865.1:p.His1770Thrfs frameshift NM_001407937.1:c.*88delC NM_001407938.1:c.*88delC NM_001407939.1:c.*88delC NM_001407940.1:c.*88delC NM_001407941.1:c.*88delC NM_001407942.1:c.*88delC NM_001407943.1:c.*88delC NM_001407944.1:c.*88delC NM_001407945.1:c.*88delC NM_001407946.1:c.5241delC NP_001394875.1:p.His1749Thrfs frameshift NM_001407947.1:c.5241delC NP_001394876.1:p.His1749Thrfs frameshift NM_001407948.1:c.5241delC NP_001394877.1:p.His1749Thrfs frameshift NM_001407949.1:c.5241delC NP_001394878.1:p.His1749Thrfs frameshift NM_001407950.1:c.5238delC NP_001394879.1:p.His1748Thrfs frameshift NM_001407951.1:c.5238delC NP_001394880.1:p.His1748Thrfs frameshift NM_001407952.1:c.5238delC NP_001394881.1:p.His1748Thrfs frameshift NM_001407953.1:c.5238delC NP_001394882.1:p.His1748Thrfs frameshift NM_001407954.1:c.5238delC NP_001394883.1:p.His1748Thrfs frameshift NM_001407955.1:c.5238delC NP_001394884.1:p.His1748Thrfs frameshift NM_001407956.1:c.5235delC NP_001394885.1:p.His1747Thrfs frameshift NM_001407957.1:c.5235delC NP_001394886.1:p.His1747Thrfs frameshift NM_001407958.1:c.5235delC NP_001394887.1:p.His1747Thrfs frameshift NM_001407959.1:c.5193delC NP_001394888.1:p.His1733Thrfs frameshift NM_001407960.1:c.5190delC NP_001394889.1:p.His1732Thrfs frameshift NM_001407962.1:c.5190delC NP_001394891.1:p.His1732Thrfs frameshift NM_001407963.1:c.5187delC NP_001394892.1:p.His1731Thrfs frameshift NM_001407964.1:c.5112delC NP_001394893.1:p.His1706Thrfs frameshift NM_001407965.1:c.5067delC NP_001394894.1:p.His1691Thrfs frameshift NM_001407966.1:c.4686delC NP_001394895.1:p.His1564Thrfs frameshift NM_001407967.1:c.4683delC NP_001394896.1:p.His1563Thrfs frameshift NM_001407968.1:c.2970delC NP_001394897.1:p.His992Thrfs frameshift NM_001407969.1:c.2967delC NP_001394898.1:p.His991Thrfs frameshift NM_001407970.1:c.2331delC NP_001394899.1:p.His779Thrfs frameshift NM_001407971.1:c.2331delC NP_001394900.1:p.His779Thrfs frameshift NM_001407972.1:c.2328delC NP_001394901.1:p.His778Thrfs frameshift NM_001407973.1:c.2265delC NP_001394902.1:p.His757Thrfs frameshift NM_001407974.1:c.2265delC NP_001394903.1:p.His757Thrfs frameshift NM_001407975.1:c.2265delC NP_001394904.1:p.His757Thrfs frameshift NM_001407976.1:c.2265delC NP_001394905.1:p.His757Thrfs frameshift NM_001407977.1:c.2265delC NP_001394906.1:p.His757Thrfs frameshift NM_001407978.1:c.2265delC NP_001394907.1:p.His757Thrfs frameshift NM_001407979.1:c.2262delC NP_001394908.1:p.His756Thrfs frameshift NM_001407980.1:c.2262delC NP_001394909.1:p.His756Thrfs frameshift NM_001407981.1:c.2262delC NP_001394910.1:p.His756Thrfs frameshift NM_001407982.1:c.2262delC NP_001394911.1:p.His756Thrfs frameshift NM_001407983.1:c.2262delC NP_001394912.1:p.His756Thrfs frameshift NM_001407984.1:c.2262delC NP_001394913.1:p.His756Thrfs frameshift NM_001407985.1:c.2262delC NP_001394914.1:p.His756Thrfs frameshift NM_001407986.1:c.2262delC NP_001394915.1:p.His756Thrfs frameshift NM_001407990.1:c.2262delC NP_001394919.1:p.His756Thrfs frameshift NM_001407991.1:c.2262delC NP_001394920.1:p.His756Thrfs frameshift NM_001407992.1:c.2262delC NP_001394921.1:p.His756Thrfs frameshift NM_001407993.1:c.2262delC NP_001394922.1:p.His756Thrfs frameshift NM_001408392.1:c.2259delC NP_001395321.1:p.His755Thrfs frameshift NM_001408396.1:c.2259delC NP_001395325.1:p.His755Thrfs frameshift NM_001408397.1:c.2259delC NP_001395326.1:p.His755Thrfs frameshift NM_001408398.1:c.2259delC NP_001395327.1:p.His755Thrfs frameshift NM_001408399.1:c.2259delC NP_001395328.1:p.His755Thrfs frameshift NM_001408400.1:c.2259delC NP_001395329.1:p.His755Thrfs frameshift NM_001408401.1:c.2259delC NP_001395330.1:p.His755Thrfs frameshift NM_001408402.1:c.2259delC NP_001395331.1:p.His755Thrfs frameshift NM_001408403.1:c.2259delC NP_001395332.1:p.His755Thrfs frameshift NM_001408404.1:c.2259delC NP_001395333.1:p.His755Thrfs frameshift NM_001408406.1:c.2256delC NP_001395335.1:p.His754Thrfs frameshift NM_001408407.1:c.2256delC NP_001395336.1:p.His754Thrfs frameshift NM_001408408.1:c.2256delC NP_001395337.1:p.His754Thrfs frameshift NM_001408409.1:c.2253delC NP_001395338.1:p.His753Thrfs frameshift NM_001408410.1:c.2190delC NP_001395339.1:p.His732Thrfs frameshift NM_001408411.1:c.2187delC NP_001395340.1:p.His731Thrfs frameshift NM_001408412.1:c.2184delC NP_001395341.1:p.His730Thrfs frameshift NM_001408413.1:c.2184delC NP_001395342.1:p.His730Thrfs frameshift NM_001408414.1:c.2184delC NP_001395343.1:p.His730Thrfs frameshift NM_001408415.1:c.2184delC NP_001395344.1:p.His730Thrfs frameshift NM_001408416.1:c.2184delC NP_001395345.1:p.His730Thrfs frameshift NM_001408418.1:c.2148delC NP_001395347.1:p.His718Thrfs frameshift NM_001408419.1:c.2148delC NP_001395348.1:p.His718Thrfs frameshift NM_001408420.1:c.2148delC NP_001395349.1:p.His718Thrfs frameshift NM_001408421.1:c.2145delC NP_001395350.1:p.His717Thrfs frameshift NM_001408422.1:c.2145delC NP_001395351.1:p.His717Thrfs frameshift NM_001408423.1:c.2145delC NP_001395352.1:p.His717Thrfs frameshift NM_001408424.1:c.2145delC NP_001395353.1:p.His717Thrfs frameshift NM_001408425.1:c.2142delC NP_001395354.1:p.His716Thrfs frameshift NM_001408426.1:c.2142delC NP_001395355.1:p.His716Thrfs frameshift NM_001408427.1:c.2142delC NP_001395356.1:p.His716Thrfs frameshift NM_001408428.1:c.2142delC NP_001395357.1:p.His716Thrfs frameshift NM_001408429.1:c.2142delC NP_001395358.1:p.His716Thrfs frameshift NM_001408430.1:c.2142delC NP_001395359.1:p.His716Thrfs frameshift NM_001408431.1:c.2142delC NP_001395360.1:p.His716Thrfs frameshift NM_001408432.1:c.2139delC NP_001395361.1:p.His715Thrfs frameshift NM_001408433.1:c.2139delC NP_001395362.1:p.His715Thrfs frameshift NM_001408434.1:c.2139delC NP_001395363.1:p.His715Thrfs frameshift NM_001408435.1:c.2139delC NP_001395364.1:p.His715Thrfs frameshift NM_001408436.1:c.2139delC NP_001395365.1:p.His715Thrfs frameshift NM_001408437.1:c.2139delC NP_001395366.1:p.His715Thrfs frameshift NM_001408438.1:c.2139delC NP_001395367.1:p.His715Thrfs frameshift NM_001408439.1:c.2139delC NP_001395368.1:p.His715Thrfs frameshift NM_001408440.1:c.2139delC NP_001395369.1:p.His715Thrfs frameshift NM_001408441.1:c.2139delC NP_001395370.1:p.His715Thrfs frameshift NM_001408442.1:c.2139delC NP_001395371.1:p.His715Thrfs frameshift NM_001408443.1:c.2139delC NP_001395372.1:p.His715Thrfs frameshift NM_001408444.1:c.2139delC NP_001395373.1:p.His715Thrfs frameshift NM_001408445.1:c.2136delC NP_001395374.1:p.His714Thrfs frameshift NM_001408446.1:c.2136delC NP_001395375.1:p.His714Thrfs frameshift NM_001408447.1:c.2136delC NP_001395376.1:p.His714Thrfs frameshift NM_001408448.1:c.2136delC NP_001395377.1:p.His714Thrfs frameshift NM_001408450.1:c.2136delC NP_001395379.1:p.His714Thrfs frameshift NM_001408451.1:c.2130delC NP_001395380.1:p.His712Thrfs frameshift NM_001408452.1:c.2124delC NP_001395381.1:p.His710Thrfs frameshift NM_001408453.1:c.2124delC NP_001395382.1:p.His710Thrfs frameshift NM_001408454.1:c.2124delC NP_001395383.1:p.His710Thrfs frameshift NM_001408455.1:c.2124delC NP_001395384.1:p.His710Thrfs frameshift NM_001408456.1:c.2124delC NP_001395385.1:p.His710Thrfs frameshift NM_001408457.1:c.2124delC NP_001395386.1:p.His710Thrfs frameshift NM_001408458.1:c.2121delC NP_001395387.1:p.His709Thrfs frameshift NM_001408459.1:c.2121delC NP_001395388.1:p.His709Thrfs frameshift NM_001408460.1:c.2121delC NP_001395389.1:p.His709Thrfs frameshift NM_001408461.1:c.2121delC NP_001395390.1:p.His709Thrfs frameshift NM_001408462.1:c.2121delC NP_001395391.1:p.His709Thrfs frameshift NM_001408463.1:c.2121delC NP_001395392.1:p.His709Thrfs frameshift NM_001408464.1:c.2121delC NP_001395393.1:p.His709Thrfs frameshift NM_001408465.1:c.2121delC NP_001395394.1:p.His709Thrfs frameshift NM_001408466.1:c.2121delC NP_001395395.1:p.His709Thrfs frameshift NM_001408467.1:c.2121delC NP_001395396.1:p.His709Thrfs frameshift NM_001408468.1:c.2118delC NP_001395397.1:p.His708Thrfs frameshift NM_001408469.1:c.2118delC NP_001395398.1:p.His708Thrfs frameshift NM_001408470.1:c.2118delC NP_001395399.1:p.His708Thrfs frameshift NM_001408472.1:c.*88delC NM_001408473.1:c.*88delC NM_001408474.1:c.2064delC NP_001395403.1:p.His690Thrfs frameshift NM_001408475.1:c.2061delC NP_001395404.1:p.His689Thrfs frameshift NM_001408476.1:c.2061delC NP_001395405.1:p.His689Thrfs frameshift NM_001408478.1:c.2055delC NP_001395407.1:p.His687Thrfs frameshift NM_001408479.1:c.2055delC NP_001395408.1:p.His687Thrfs frameshift NM_001408480.1:c.2055delC NP_001395409.1:p.His687Thrfs frameshift NM_001408481.1:c.2052delC NP_001395410.1:p.His686Thrfs frameshift NM_001408482.1:c.2052delC NP_001395411.1:p.His686Thrfs frameshift NM_001408483.1:c.2052delC NP_001395412.1:p.His686Thrfs frameshift NM_001408484.1:c.2052delC NP_001395413.1:p.His686Thrfs frameshift NM_001408485.1:c.2052delC NP_001395414.1:p.His686Thrfs frameshift NM_001408489.1:c.2052delC NP_001395418.1:p.His686Thrfs frameshift NM_001408490.1:c.2052delC NP_001395419.1:p.His686Thrfs frameshift NM_001408491.1:c.2052delC NP_001395420.1:p.His686Thrfs frameshift NM_001408492.1:c.2049delC NP_001395421.1:p.His685Thrfs frameshift NM_001408493.1:c.2049delC NP_001395422.1:p.His685Thrfs frameshift NM_001408494.1:c.2025delC NP_001395423.1:p.His677Thrfs frameshift NM_001408495.1:c.2019delC NP_001395424.1:p.His675Thrfs frameshift NM_001408496.1:c.2001delC NP_001395425.1:p.His669Thrfs frameshift NM_001408497.1:c.2001delC NP_001395426.1:p.His669Thrfs frameshift NM_001408498.1:c.2001delC NP_001395427.1:p.His669Thrfs frameshift NM_001408499.1:c.2001delC NP_001395428.1:p.His669Thrfs frameshift NM_001408500.1:c.2001delC NP_001395429.1:p.His669Thrfs frameshift NM_001408501.1:c.2001delC NP_001395430.1:p.His669Thrfs frameshift NM_001408502.1:c.1998delC NP_001395431.1:p.His668Thrfs frameshift NM_001408503.1:c.1998delC NP_001395432.1:p.His668Thrfs frameshift NM_001408504.1:c.1998delC NP_001395433.1:p.His668Thrfs frameshift NM_001408505.1:c.1995delC NP_001395434.1:p.His667Thrfs frameshift NM_001408506.1:c.1938delC NP_001395435.1:p.His648Thrfs frameshift NM_001408507.1:c.1935delC NP_001395436.1:p.His647Thrfs frameshift NM_001408508.1:c.1926delC NP_001395437.1:p.His644Thrfs frameshift NM_001408509.1:c.1923delC NP_001395438.1:p.His643Thrfs frameshift NM_001408510.1:c.1884delC NP_001395439.1:p.His630Thrfs frameshift NM_001408511.1:c.1881delC NP_001395440.1:p.His629Thrfs frameshift NM_001408512.1:c.1761delC NP_001395441.1:p.His589Thrfs frameshift NM_001408513.1:c.1734delC NP_001395442.1:p.His580Thrfs frameshift NM_001408514.1:c.1338delC NP_001395443.1:p.His448Thrfs frameshift NM_007297.4:c.5437del NP_009228.2:p.His1813fs frameshift NM_007298.4:c.2262delC NP_009229.2:p.His756Thrfs frameshift NM_007299.4:c.*92del 3 prime UTR NM_007300.4:c.5641del NP_009231.2:p.His1881fs frameshift NM_007304.2:c.2262delC NP_009235.2:p.His756Thrfs frameshift NR_027676.2:n.5755del non-coding transcript variant NC_000017.11:g.43045696del NC_000017.10:g.41197713del NG_005905.2:g.172292del LRG_292:g.172292del LRG_292t1:c.5574del LRG_292p1:p.His1860Thrfs - Protein change
- H1813fs, H1860fs, H1881fs, H756fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045691:GGGGG:GGGG
-
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.
- -
- 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 | ||
|---|---|---|---|---|---|---|
| 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 |
13044 | 14850 | |
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. |
|---|---|---|---|---|
| Likely pathogenic (1) |
criteria provided, single submitter
|
Jan 5, 2018 | RCV001269983.3 | |
| Likely pathogenic (1) |
no assertion criteria provided
|
Aug 26, 2022 | RCV003155972.1 |
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. |
|
|---|---|---|---|---|---|
|
Likely pathogenic
(Jan 05, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001450386.1
First in ClinVar: Dec 11, 2020 Last updated: Dec 11, 2020 |
Number of individuals with the variant: 1
|
|
|
Likely pathogenic
(Aug 26, 2022)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
BRCAlab, Lund University
Accession: SCV002588841.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023 |
|
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
Help| There 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 rs397507254 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record 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.