Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5560del (p.Tyr1853_Leu1854insTer)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Oct 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5560del (p.Tyr1853_Leu1854insTer)
Variation ID: 266565 Accession: VCV000266565.6
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43045710 (GRCh38) [ NCBI UCSC ] 17: 41197727 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 7, 2023 Oct 18, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5560del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1853_Leu1854insTer nonsense NM_001407571.1:c.5346delC NP_001394500.1:p.Leu1783Terfs frameshift nonsense NM_001407581.1:c.5625delC NP_001394510.1:p.Leu1876Terfs frameshift nonsense NM_001407582.1:c.5625delC NP_001394511.1:p.Leu1876Terfs frameshift nonsense NM_001407583.1:c.5622delC NP_001394512.1:p.Leu1875Terfs frameshift nonsense NM_001407585.1:c.5622delC NP_001394514.1:p.Leu1875Terfs frameshift nonsense NM_001407587.1:c.5622delC NP_001394516.1:p.Leu1875Terfs frameshift nonsense NM_001407590.1:c.5619delC NP_001394519.1:p.Leu1874Terfs frameshift nonsense NM_001407591.1:c.5619delC NP_001394520.1:p.Leu1874Terfs frameshift nonsense NM_001407593.1:c.5559delC NP_001394522.1:p.Leu1854Terfs frameshift nonsense NM_001407594.1:c.5559delC NP_001394523.1:p.Leu1854Terfs frameshift nonsense NM_001407596.1:c.5559delC NP_001394525.1:p.Leu1854Terfs frameshift nonsense NM_001407597.1:c.5559delC NP_001394526.1:p.Leu1854Terfs frameshift nonsense NM_001407598.1:c.5559delC NP_001394527.1:p.Leu1854Terfs frameshift nonsense NM_001407602.1:c.5559delC NP_001394531.1:p.Leu1854Terfs frameshift nonsense NM_001407603.1:c.5559delC NP_001394532.1:p.Leu1854Terfs frameshift nonsense NM_001407605.1:c.5559delC NP_001394534.1:p.Leu1854Terfs frameshift nonsense NM_001407610.1:c.5556delC NP_001394539.1:p.Leu1853Terfs frameshift nonsense NM_001407611.1:c.5556delC NP_001394540.1:p.Leu1853Terfs frameshift nonsense NM_001407612.1:c.5556delC NP_001394541.1:p.Leu1853Terfs frameshift nonsense NM_001407613.1:c.5556delC NP_001394542.1:p.Leu1853Terfs frameshift nonsense NM_001407614.1:c.5556delC NP_001394543.1:p.Leu1853Terfs frameshift nonsense NM_001407615.1:c.5556delC NP_001394544.1:p.Leu1853Terfs frameshift nonsense NM_001407616.1:c.5556delC NP_001394545.1:p.Leu1853Terfs frameshift nonsense NM_001407617.1:c.5556delC NP_001394546.1:p.Leu1853Terfs frameshift nonsense NM_001407618.1:c.5556delC NP_001394547.1:p.Leu1853Terfs frameshift nonsense NM_001407619.1:c.5556delC NP_001394548.1:p.Leu1853Terfs frameshift nonsense NM_001407620.1:c.5556delC NP_001394549.1:p.Leu1853Terfs frameshift nonsense NM_001407621.1:c.5556delC NP_001394550.1:p.Leu1853Terfs frameshift nonsense NM_001407622.1:c.5556delC NP_001394551.1:p.Leu1853Terfs frameshift nonsense NM_001407623.1:c.5556delC NP_001394552.1:p.Leu1853Terfs frameshift nonsense NM_001407624.1:c.5556delC NP_001394553.1:p.Leu1853Terfs frameshift nonsense NM_001407625.1:c.5556delC NP_001394554.1:p.Leu1853Terfs frameshift nonsense NM_001407626.1:c.5556delC NP_001394555.1:p.Leu1853Terfs frameshift nonsense NM_001407627.1:c.5553delC NP_001394556.1:p.Leu1852Terfs frameshift nonsense NM_001407628.1:c.5553delC NP_001394557.1:p.Leu1852Terfs frameshift nonsense NM_001407629.1:c.5553delC NP_001394558.1:p.Leu1852Terfs frameshift nonsense NM_001407630.1:c.5553delC NP_001394559.1:p.Leu1852Terfs frameshift nonsense NM_001407631.1:c.5553delC NP_001394560.1:p.Leu1852Terfs frameshift nonsense NM_001407632.1:c.5553delC NP_001394561.1:p.Leu1852Terfs frameshift nonsense NM_001407633.1:c.5553delC NP_001394562.1:p.Leu1852Terfs frameshift nonsense NM_001407634.1:c.5553delC NP_001394563.1:p.Leu1852Terfs frameshift nonsense NM_001407635.1:c.5553delC NP_001394564.1:p.Leu1852Terfs frameshift nonsense NM_001407636.1:c.5553delC NP_001394565.1:p.Leu1852Terfs frameshift nonsense NM_001407637.1:c.5553delC NP_001394566.1:p.Leu1852Terfs frameshift nonsense NM_001407638.1:c.5553delC NP_001394567.1:p.Leu1852Terfs frameshift nonsense NM_001407639.1:c.5553delC NP_001394568.1:p.Leu1852Terfs frameshift nonsense NM_001407640.1:c.5553delC NP_001394569.1:p.Leu1852Terfs frameshift nonsense NM_001407641.1:c.5553delC NP_001394570.1:p.Leu1852Terfs frameshift nonsense NM_001407642.1:c.5553delC NP_001394571.1:p.Leu1852Terfs frameshift nonsense NM_001407644.1:c.5550delC NP_001394573.1:p.Leu1851Terfs frameshift nonsense NM_001407645.1:c.5550delC NP_001394574.1:p.Leu1851Terfs frameshift nonsense NM_001407646.1:c.5547delC NP_001394575.1:p.Leu1850Terfs frameshift nonsense NM_001407647.1:c.5544delC NP_001394576.1:p.Leu1849Terfs frameshift nonsense NM_001407648.1:c.5502delC NP_001394577.1:p.Leu1835Terfs frameshift nonsense NM_001407649.1:c.5499delC NP_001394578.1:p.Leu1834Terfs frameshift nonsense NM_001407652.1:c.5481delC NP_001394581.1:p.Leu1828Terfs frameshift nonsense NM_001407653.1:c.5481delC NP_001394582.1:p.Leu1828Terfs frameshift nonsense NM_001407654.1:c.5481delC NP_001394583.1:p.Leu1828Terfs frameshift nonsense NM_001407655.1:c.5481delC NP_001394584.1:p.Leu1828Terfs frameshift nonsense NM_001407656.1:c.5478delC NP_001394585.1:p.Leu1827Terfs frameshift nonsense NM_001407657.1:c.5478delC NP_001394586.1:p.Leu1827Terfs frameshift nonsense NM_001407658.1:c.5478delC NP_001394587.1:p.Leu1827Terfs frameshift nonsense NM_001407659.1:c.5475delC NP_001394588.1:p.Leu1826Terfs frameshift nonsense NM_001407660.1:c.5475delC NP_001394589.1:p.Leu1826Terfs frameshift nonsense NM_001407661.1:c.5475delC NP_001394590.1:p.Leu1826Terfs frameshift nonsense NM_001407662.1:c.5475delC NP_001394591.1:p.Leu1826Terfs frameshift nonsense NM_001407663.1:c.5475delC NP_001394592.1:p.Leu1826Terfs frameshift nonsense NM_001407664.1:c.5436delC NP_001394593.1:p.Leu1813Terfs frameshift nonsense NM_001407665.1:c.5436delC NP_001394594.1:p.Leu1813Terfs frameshift nonsense NM_001407666.1:c.5436delC NP_001394595.1:p.Leu1813Terfs frameshift nonsense NM_001407667.1:c.5436delC NP_001394596.1:p.Leu1813Terfs frameshift nonsense NM_001407668.1:c.5436delC NP_001394597.1:p.Leu1813Terfs frameshift nonsense NM_001407669.1:c.5436delC NP_001394598.1:p.Leu1813Terfs frameshift nonsense NM_001407670.1:c.5433delC NP_001394599.1:p.Leu1812Terfs frameshift nonsense NM_001407671.1:c.5433delC NP_001394600.1:p.Leu1812Terfs frameshift nonsense NM_001407672.1:c.5433delC NP_001394601.1:p.Leu1812Terfs frameshift nonsense NM_001407673.1:c.5433delC NP_001394602.1:p.Leu1812Terfs frameshift nonsense NM_001407674.1:c.5433delC NP_001394603.1:p.Leu1812Terfs frameshift nonsense NM_001407675.1:c.5433delC NP_001394604.1:p.Leu1812Terfs frameshift nonsense NM_001407676.1:c.5433delC NP_001394605.1:p.Leu1812Terfs frameshift nonsense NM_001407677.1:c.5433delC NP_001394606.1:p.Leu1812Terfs frameshift nonsense NM_001407678.1:c.5433delC NP_001394607.1:p.Leu1812Terfs frameshift nonsense NM_001407679.1:c.5433delC NP_001394608.1:p.Leu1812Terfs frameshift nonsense NM_001407680.1:c.5433delC NP_001394609.1:p.Leu1812Terfs frameshift nonsense NM_001407681.1:c.5430delC NP_001394610.1:p.Leu1811Terfs frameshift nonsense NM_001407682.1:c.5430delC NP_001394611.1:p.Leu1811Terfs frameshift nonsense NM_001407683.1:c.5430delC NP_001394612.1:p.Leu1811Terfs frameshift nonsense NM_001407684.1:c.5430delC NP_001394613.1:p.Leu1811Terfs frameshift nonsense NM_001407685.1:c.5430delC NP_001394614.1:p.Leu1811Terfs frameshift nonsense NM_001407686.1:c.5430delC NP_001394615.1:p.Leu1811Terfs frameshift nonsense NM_001407687.1:c.5430delC NP_001394616.1:p.Leu1811Terfs frameshift nonsense NM_001407688.1:c.5430delC NP_001394617.1:p.Leu1811Terfs frameshift nonsense NM_001407689.1:c.5430delC NP_001394618.1:p.Leu1811Terfs frameshift nonsense NM_001407690.1:c.5427delC NP_001394619.1:p.Leu1810Terfs frameshift nonsense NM_001407691.1:c.5427delC NP_001394620.1:p.Leu1810Terfs frameshift nonsense NM_001407692.1:c.5418delC NP_001394621.1:p.Leu1807Terfs frameshift nonsense NM_001407694.1:c.5418delC NP_001394623.1:p.Leu1807Terfs frameshift nonsense NM_001407695.1:c.5418delC NP_001394624.1:p.Leu1807Terfs frameshift nonsense NM_001407696.1:c.5418delC NP_001394625.1:p.Leu1807Terfs frameshift nonsense NM_001407697.1:c.5418delC NP_001394626.1:p.Leu1807Terfs frameshift nonsense NM_001407698.1:c.5418delC NP_001394627.1:p.Leu1807Terfs frameshift nonsense NM_001407724.1:c.5418delC NP_001394653.1:p.Leu1807Terfs frameshift nonsense NM_001407725.1:c.5418delC NP_001394654.1:p.Leu1807Terfs frameshift nonsense NM_001407726.1:c.5418delC NP_001394655.1:p.Leu1807Terfs frameshift nonsense NM_001407727.1:c.5418delC NP_001394656.1:p.Leu1807Terfs frameshift nonsense NM_001407728.1:c.5418delC NP_001394657.1:p.Leu1807Terfs frameshift nonsense NM_001407729.1:c.5418delC NP_001394658.1:p.Leu1807Terfs frameshift nonsense NM_001407730.1:c.5418delC NP_001394659.1:p.Leu1807Terfs frameshift nonsense NM_001407731.1:c.5418delC NP_001394660.1:p.Leu1807Terfs frameshift nonsense NM_001407732.1:c.5415delC NP_001394661.1:p.Leu1806Terfs frameshift nonsense NM_001407733.1:c.5415delC NP_001394662.1:p.Leu1806Terfs frameshift nonsense NM_001407734.1:c.5415delC NP_001394663.1:p.Leu1806Terfs frameshift nonsense NM_001407735.1:c.5415delC NP_001394664.1:p.Leu1806Terfs frameshift nonsense NM_001407736.1:c.5415delC NP_001394665.1:p.Leu1806Terfs frameshift nonsense NM_001407737.1:c.5415delC NP_001394666.1:p.Leu1806Terfs frameshift nonsense NM_001407738.1:c.5415delC NP_001394667.1:p.Leu1806Terfs frameshift nonsense NM_001407739.1:c.5415delC NP_001394668.1:p.Leu1806Terfs frameshift nonsense NM_001407740.1:c.5415delC NP_001394669.1:p.Leu1806Terfs frameshift nonsense NM_001407741.1:c.5415delC NP_001394670.1:p.Leu1806Terfs frameshift nonsense NM_001407742.1:c.5415delC NP_001394671.1:p.Leu1806Terfs frameshift nonsense NM_001407743.1:c.5415delC NP_001394672.1:p.Leu1806Terfs frameshift nonsense NM_001407744.1:c.5415delC NP_001394673.1:p.Leu1806Terfs frameshift nonsense NM_001407745.1:c.5415delC NP_001394674.1:p.Leu1806Terfs frameshift nonsense NM_001407746.1:c.5415delC NP_001394675.1:p.Leu1806Terfs frameshift nonsense NM_001407747.1:c.5415delC NP_001394676.1:p.Leu1806Terfs frameshift nonsense NM_001407748.1:c.5415delC NP_001394677.1:p.Leu1806Terfs frameshift nonsense NM_001407749.1:c.5415delC NP_001394678.1:p.Leu1806Terfs frameshift nonsense NM_001407750.1:c.5415delC NP_001394679.1:p.Leu1806Terfs frameshift nonsense NM_001407751.1:c.5415delC NP_001394680.1:p.Leu1806Terfs frameshift nonsense NM_001407752.1:c.5415delC NP_001394681.1:p.Leu1806Terfs frameshift nonsense NM_001407838.1:c.5412delC NP_001394767.1:p.Leu1805Terfs frameshift nonsense NM_001407839.1:c.5412delC NP_001394768.1:p.Leu1805Terfs frameshift nonsense NM_001407841.1:c.5412delC NP_001394770.1:p.Leu1805Terfs frameshift nonsense NM_001407842.1:c.5412delC NP_001394771.1:p.Leu1805Terfs frameshift nonsense NM_001407843.1:c.5412delC NP_001394772.1:p.Leu1805Terfs frameshift nonsense NM_001407844.1:c.5412delC NP_001394773.1:p.Leu1805Terfs frameshift nonsense NM_001407845.1:c.5412delC NP_001394774.1:p.Leu1805Terfs frameshift nonsense NM_001407846.1:c.5412delC NP_001394775.1:p.Leu1805Terfs frameshift nonsense NM_001407847.1:c.5412delC NP_001394776.1:p.Leu1805Terfs frameshift nonsense NM_001407848.1:c.5412delC NP_001394777.1:p.Leu1805Terfs frameshift nonsense NM_001407849.1:c.5412delC NP_001394778.1:p.Leu1805Terfs frameshift nonsense NM_001407850.1:c.5412delC NP_001394779.1:p.Leu1805Terfs frameshift nonsense NM_001407851.1:c.5412delC NP_001394780.1:p.Leu1805Terfs frameshift nonsense NM_001407852.1:c.5412delC NP_001394781.1:p.Leu1805Terfs frameshift nonsense NM_001407853.1:c.5412delC NP_001394782.1:p.Leu1805Terfs frameshift nonsense NM_001407854.1:c.*73delC NM_001407858.1:c.*73delC NM_001407859.1:c.*73delC NM_001407860.1:c.*73delC NM_001407861.1:c.*73delC NM_001407862.1:c.5358delC NP_001394791.1:p.Leu1787Terfs frameshift nonsense NM_001407863.1:c.5355delC NP_001394792.1:p.Leu1786Terfs frameshift nonsense NM_001407874.1:c.5352delC NP_001394803.1:p.Leu1785Terfs frameshift nonsense NM_001407875.1:c.5352delC NP_001394804.1:p.Leu1785Terfs frameshift nonsense NM_001407879.1:c.5349delC NP_001394808.1:p.Leu1784Terfs frameshift nonsense NM_001407881.1:c.5349delC NP_001394810.1:p.Leu1784Terfs frameshift nonsense NM_001407882.1:c.5349delC NP_001394811.1:p.Leu1784Terfs frameshift nonsense NM_001407884.1:c.5349delC NP_001394813.1:p.Leu1784Terfs frameshift nonsense NM_001407885.1:c.5349delC NP_001394814.1:p.Leu1784Terfs frameshift nonsense NM_001407886.1:c.5349delC NP_001394815.1:p.Leu1784Terfs frameshift nonsense NM_001407887.1:c.5349delC NP_001394816.1:p.Leu1784Terfs frameshift nonsense NM_001407889.1:c.5349delC NP_001394818.1:p.Leu1784Terfs frameshift nonsense NM_001407894.1:c.5346delC NP_001394823.1:p.Leu1783Terfs frameshift nonsense NM_001407895.1:c.5346delC NP_001394824.1:p.Leu1783Terfs frameshift nonsense NM_001407896.1:c.5346delC NP_001394825.1:p.Leu1783Terfs frameshift nonsense NM_001407897.1:c.5346delC NP_001394826.1:p.Leu1783Terfs frameshift nonsense NM_001407898.1:c.5346delC NP_001394827.1:p.Leu1783Terfs frameshift nonsense NM_001407899.1:c.5346delC NP_001394828.1:p.Leu1783Terfs frameshift nonsense NM_001407900.1:c.5346delC NP_001394829.1:p.Leu1783Terfs frameshift nonsense NM_001407902.1:c.5346delC NP_001394831.1:p.Leu1783Terfs frameshift nonsense NM_001407904.1:c.5346delC NP_001394833.1:p.Leu1783Terfs frameshift nonsense NM_001407906.1:c.5346delC NP_001394835.1:p.Leu1783Terfs frameshift nonsense NM_001407907.1:c.5346delC NP_001394836.1:p.Leu1783Terfs frameshift nonsense NM_001407908.1:c.5346delC NP_001394837.1:p.Leu1783Terfs frameshift nonsense NM_001407909.1:c.5346delC NP_001394838.1:p.Leu1783Terfs frameshift nonsense NM_001407910.1:c.5346delC NP_001394839.1:p.Leu1783Terfs frameshift nonsense NM_001407915.1:c.5343delC NP_001394844.1:p.Leu1782Terfs frameshift nonsense NM_001407916.1:c.5343delC NP_001394845.1:p.Leu1782Terfs frameshift nonsense NM_001407917.1:c.5343delC NP_001394846.1:p.Leu1782Terfs frameshift nonsense NM_001407918.1:c.5343delC NP_001394847.1:p.Leu1782Terfs frameshift nonsense NM_001407919.1:c.5307delC NP_001394848.1:p.Leu1770Terfs frameshift nonsense NM_001407920.1:c.5295delC NP_001394849.1:p.Leu1766Terfs frameshift nonsense NM_001407921.1:c.5295delC NP_001394850.1:p.Leu1766Terfs frameshift nonsense NM_001407922.1:c.5295delC NP_001394851.1:p.Leu1766Terfs frameshift nonsense NM_001407923.1:c.5295delC NP_001394852.1:p.Leu1766Terfs frameshift nonsense NM_001407924.1:c.5295delC NP_001394853.1:p.Leu1766Terfs frameshift nonsense NM_001407925.1:c.5295delC NP_001394854.1:p.Leu1766Terfs frameshift nonsense NM_001407926.1:c.5295delC NP_001394855.1:p.Leu1766Terfs frameshift nonsense NM_001407927.1:c.5292delC NP_001394856.1:p.Leu1765Terfs frameshift nonsense NM_001407928.1:c.5292delC NP_001394857.1:p.Leu1765Terfs frameshift nonsense NM_001407929.1:c.5292delC NP_001394858.1:p.Leu1765Terfs frameshift nonsense NM_001407930.1:c.5292delC NP_001394859.1:p.Leu1765Terfs frameshift nonsense NM_001407931.1:c.5292delC NP_001394860.1:p.Leu1765Terfs frameshift nonsense NM_001407932.1:c.5292delC NP_001394861.1:p.Leu1765Terfs frameshift nonsense NM_001407933.1:c.5292delC NP_001394862.1:p.Leu1765Terfs frameshift nonsense NM_001407934.1:c.5289delC NP_001394863.1:p.Leu1764Terfs frameshift nonsense NM_001407935.1:c.5289delC NP_001394864.1:p.Leu1764Terfs frameshift nonsense NM_001407936.1:c.5289delC NP_001394865.1:p.Leu1764Terfs frameshift nonsense NM_001407937.1:c.*73delC NM_001407938.1:c.*73delC NM_001407939.1:c.*73delC NM_001407940.1:c.*73delC NM_001407941.1:c.*73delC NM_001407942.1:c.*73delC NM_001407943.1:c.*73delC NM_001407944.1:c.*73delC NM_001407945.1:c.*73delC NM_001407946.1:c.5226delC NP_001394875.1:p.Leu1743Terfs frameshift nonsense NM_001407947.1:c.5226delC NP_001394876.1:p.Leu1743Terfs frameshift nonsense NM_001407948.1:c.5226delC NP_001394877.1:p.Leu1743Terfs frameshift nonsense NM_001407949.1:c.5226delC NP_001394878.1:p.Leu1743Terfs frameshift nonsense NM_001407950.1:c.5223delC NP_001394879.1:p.Leu1742Terfs frameshift nonsense NM_001407951.1:c.5223delC NP_001394880.1:p.Leu1742Terfs frameshift nonsense NM_001407952.1:c.5223delC NP_001394881.1:p.Leu1742Terfs frameshift nonsense NM_001407953.1:c.5223delC NP_001394882.1:p.Leu1742Terfs frameshift nonsense NM_001407954.1:c.5223delC NP_001394883.1:p.Leu1742Terfs frameshift nonsense NM_001407955.1:c.5223delC NP_001394884.1:p.Leu1742Terfs frameshift nonsense NM_001407956.1:c.5220delC NP_001394885.1:p.Leu1741Terfs frameshift nonsense NM_001407957.1:c.5220delC NP_001394886.1:p.Leu1741Terfs frameshift nonsense NM_001407958.1:c.5220delC NP_001394887.1:p.Leu1741Terfs frameshift nonsense NM_001407959.1:c.5178delC NP_001394888.1:p.Leu1727Terfs frameshift nonsense NM_001407960.1:c.5175delC NP_001394889.1:p.Leu1726Terfs frameshift nonsense NM_001407962.1:c.5175delC NP_001394891.1:p.Leu1726Terfs frameshift nonsense NM_001407963.1:c.5172delC NP_001394892.1:p.Leu1725Terfs frameshift nonsense NM_001407964.1:c.5097delC NP_001394893.1:p.Leu1700Terfs frameshift nonsense NM_001407965.1:c.5052delC NP_001394894.1:p.Leu1685Terfs frameshift nonsense NM_001407966.1:c.4671delC NP_001394895.1:p.Leu1558Terfs frameshift nonsense NM_001407967.1:c.4668delC NP_001394896.1:p.Leu1557Terfs frameshift nonsense NM_001407968.1:c.2955delC NP_001394897.1:p.Leu986Terfs frameshift nonsense NM_001407969.1:c.2952delC NP_001394898.1:p.Leu985Terfs frameshift nonsense NM_001407970.1:c.2316delC NP_001394899.1:p.Leu773Terfs frameshift nonsense NM_001407971.1:c.2316delC NP_001394900.1:p.Leu773Terfs frameshift nonsense NM_001407972.1:c.2313delC NP_001394901.1:p.Leu772Terfs frameshift nonsense NM_001407973.1:c.2250delC NP_001394902.1:p.Leu751Terfs frameshift nonsense NM_001407974.1:c.2250delC NP_001394903.1:p.Leu751Terfs frameshift nonsense NM_001407975.1:c.2250delC NP_001394904.1:p.Leu751Terfs frameshift nonsense NM_001407976.1:c.2250delC NP_001394905.1:p.Leu751Terfs frameshift nonsense NM_001407977.1:c.2250delC NP_001394906.1:p.Leu751Terfs frameshift nonsense NM_001407978.1:c.2250delC NP_001394907.1:p.Leu751Terfs frameshift nonsense NM_001407979.1:c.2247delC NP_001394908.1:p.Leu750Terfs frameshift nonsense NM_001407980.1:c.2247delC NP_001394909.1:p.Leu750Terfs frameshift nonsense NM_001407981.1:c.2247delC NP_001394910.1:p.Leu750Terfs frameshift nonsense NM_001407982.1:c.2247delC NP_001394911.1:p.Leu750Terfs frameshift nonsense NM_001407983.1:c.2247delC NP_001394912.1:p.Leu750Terfs frameshift nonsense NM_001407984.1:c.2247delC NP_001394913.1:p.Leu750Terfs frameshift nonsense NM_001407985.1:c.2247delC NP_001394914.1:p.Leu750Terfs frameshift nonsense NM_001407986.1:c.2247delC NP_001394915.1:p.Leu750Terfs frameshift nonsense NM_001407990.1:c.2247delC NP_001394919.1:p.Leu750Terfs frameshift nonsense NM_001407991.1:c.2247delC NP_001394920.1:p.Leu750Terfs frameshift nonsense NM_001407992.1:c.2247delC NP_001394921.1:p.Leu750Terfs frameshift nonsense NM_001407993.1:c.2247delC NP_001394922.1:p.Leu750Terfs frameshift nonsense NM_001408392.1:c.2244delC NP_001395321.1:p.Leu749Terfs frameshift nonsense NM_001408396.1:c.2244delC NP_001395325.1:p.Leu749Terfs frameshift nonsense NM_001408397.1:c.2244delC NP_001395326.1:p.Leu749Terfs frameshift nonsense NM_001408398.1:c.2244delC NP_001395327.1:p.Leu749Terfs frameshift nonsense NM_001408399.1:c.2244delC NP_001395328.1:p.Leu749Terfs frameshift nonsense NM_001408400.1:c.2244delC NP_001395329.1:p.Leu749Terfs frameshift nonsense NM_001408401.1:c.2244delC NP_001395330.1:p.Leu749Terfs frameshift nonsense NM_001408402.1:c.2244delC NP_001395331.1:p.Leu749Terfs frameshift nonsense NM_001408403.1:c.2244delC NP_001395332.1:p.Leu749Terfs frameshift nonsense NM_001408404.1:c.2244delC NP_001395333.1:p.Leu749Terfs frameshift nonsense NM_001408406.1:c.2241delC NP_001395335.1:p.Leu748Terfs frameshift nonsense NM_001408407.1:c.2241delC NP_001395336.1:p.Leu748Terfs frameshift nonsense NM_001408408.1:c.2241delC NP_001395337.1:p.Leu748Terfs frameshift nonsense NM_001408409.1:c.2238delC NP_001395338.1:p.Leu747Terfs frameshift nonsense NM_001408410.1:c.2175delC NP_001395339.1:p.Leu726Terfs frameshift nonsense NM_001408411.1:c.2172delC NP_001395340.1:p.Leu725Terfs frameshift nonsense NM_001408412.1:c.2169delC NP_001395341.1:p.Leu724Terfs frameshift nonsense NM_001408413.1:c.2169delC NP_001395342.1:p.Leu724Terfs frameshift nonsense NM_001408414.1:c.2169delC NP_001395343.1:p.Leu724Terfs frameshift nonsense NM_001408415.1:c.2169delC NP_001395344.1:p.Leu724Terfs frameshift nonsense NM_001408416.1:c.2169delC NP_001395345.1:p.Leu724Terfs frameshift nonsense NM_001408418.1:c.2133delC NP_001395347.1:p.Leu712Terfs frameshift nonsense NM_001408419.1:c.2133delC NP_001395348.1:p.Leu712Terfs frameshift nonsense NM_001408420.1:c.2133delC NP_001395349.1:p.Leu712Terfs frameshift nonsense NM_001408421.1:c.2130delC NP_001395350.1:p.Leu711Terfs frameshift nonsense NM_001408422.1:c.2130delC NP_001395351.1:p.Leu711Terfs frameshift nonsense NM_001408423.1:c.2130delC NP_001395352.1:p.Leu711Terfs frameshift nonsense NM_001408424.1:c.2130delC NP_001395353.1:p.Leu711Terfs frameshift nonsense NM_001408425.1:c.2127delC NP_001395354.1:p.Leu710Terfs frameshift nonsense NM_001408426.1:c.2127delC NP_001395355.1:p.Leu710Terfs frameshift nonsense NM_001408427.1:c.2127delC NP_001395356.1:p.Leu710Terfs frameshift nonsense NM_001408428.1:c.2127delC NP_001395357.1:p.Leu710Terfs frameshift nonsense NM_001408429.1:c.2127delC NP_001395358.1:p.Leu710Terfs frameshift nonsense NM_001408430.1:c.2127delC NP_001395359.1:p.Leu710Terfs frameshift nonsense NM_001408431.1:c.2127delC NP_001395360.1:p.Leu710Terfs frameshift nonsense NM_001408432.1:c.2124delC NP_001395361.1:p.Leu709Terfs frameshift nonsense NM_001408433.1:c.2124delC NP_001395362.1:p.Leu709Terfs frameshift nonsense NM_001408434.1:c.2124delC NP_001395363.1:p.Leu709Terfs frameshift nonsense NM_001408435.1:c.2124delC NP_001395364.1:p.Leu709Terfs frameshift nonsense NM_001408436.1:c.2124delC NP_001395365.1:p.Leu709Terfs frameshift nonsense NM_001408437.1:c.2124delC NP_001395366.1:p.Leu709Terfs frameshift nonsense NM_001408438.1:c.2124delC NP_001395367.1:p.Leu709Terfs frameshift nonsense NM_001408439.1:c.2124delC NP_001395368.1:p.Leu709Terfs frameshift nonsense NM_001408440.1:c.2124delC NP_001395369.1:p.Leu709Terfs frameshift nonsense NM_001408441.1:c.2124delC NP_001395370.1:p.Leu709Terfs frameshift nonsense NM_001408442.1:c.2124delC NP_001395371.1:p.Leu709Terfs frameshift nonsense NM_001408443.1:c.2124delC NP_001395372.1:p.Leu709Terfs frameshift nonsense NM_001408444.1:c.2124delC NP_001395373.1:p.Leu709Terfs frameshift nonsense NM_001408445.1:c.2121delC NP_001395374.1:p.Leu708Terfs frameshift nonsense NM_001408446.1:c.2121delC NP_001395375.1:p.Leu708Terfs frameshift nonsense NM_001408447.1:c.2121delC NP_001395376.1:p.Leu708Terfs frameshift nonsense NM_001408448.1:c.2121delC NP_001395377.1:p.Leu708Terfs frameshift nonsense NM_001408450.1:c.2121delC NP_001395379.1:p.Leu708Terfs frameshift nonsense NM_001408451.1:c.2115delC NP_001395380.1:p.Leu706Terfs frameshift nonsense NM_001408452.1:c.2109delC NP_001395381.1:p.Leu704Terfs frameshift nonsense NM_001408453.1:c.2109delC NP_001395382.1:p.Leu704Terfs frameshift nonsense NM_001408454.1:c.2109delC NP_001395383.1:p.Leu704Terfs frameshift nonsense NM_001408455.1:c.2109delC NP_001395384.1:p.Leu704Terfs frameshift nonsense NM_001408456.1:c.2109delC NP_001395385.1:p.Leu704Terfs frameshift nonsense NM_001408457.1:c.2109delC NP_001395386.1:p.Leu704Terfs frameshift nonsense NM_001408458.1:c.2106delC NP_001395387.1:p.Leu703Terfs frameshift nonsense NM_001408459.1:c.2106delC NP_001395388.1:p.Leu703Terfs frameshift nonsense NM_001408460.1:c.2106delC NP_001395389.1:p.Leu703Terfs frameshift nonsense NM_001408461.1:c.2106delC NP_001395390.1:p.Leu703Terfs frameshift nonsense NM_001408462.1:c.2106delC NP_001395391.1:p.Leu703Terfs frameshift nonsense NM_001408463.1:c.2106delC NP_001395392.1:p.Leu703Terfs frameshift nonsense NM_001408464.1:c.2106delC NP_001395393.1:p.Leu703Terfs frameshift nonsense NM_001408465.1:c.2106delC NP_001395394.1:p.Leu703Terfs frameshift nonsense NM_001408466.1:c.2106delC NP_001395395.1:p.Leu703Terfs frameshift nonsense NM_001408467.1:c.2106delC NP_001395396.1:p.Leu703Terfs frameshift nonsense NM_001408468.1:c.2103delC NP_001395397.1:p.Leu702Terfs frameshift nonsense NM_001408469.1:c.2103delC NP_001395398.1:p.Leu702Terfs frameshift nonsense NM_001408470.1:c.2103delC NP_001395399.1:p.Leu702Terfs frameshift nonsense NM_001408472.1:c.*73delC NM_001408473.1:c.*73delC NM_001408474.1:c.2049delC NP_001395403.1:p.Leu684Terfs frameshift nonsense NM_001408475.1:c.2046delC NP_001395404.1:p.Leu683Terfs frameshift nonsense NM_001408476.1:c.2046delC NP_001395405.1:p.Leu683Terfs frameshift nonsense NM_001408478.1:c.2040delC NP_001395407.1:p.Leu681Terfs frameshift nonsense NM_001408479.1:c.2040delC NP_001395408.1:p.Leu681Terfs frameshift nonsense NM_001408480.1:c.2040delC NP_001395409.1:p.Leu681Terfs frameshift nonsense NM_001408481.1:c.2037delC NP_001395410.1:p.Leu680Terfs frameshift nonsense NM_001408482.1:c.2037delC NP_001395411.1:p.Leu680Terfs frameshift nonsense NM_001408483.1:c.2037delC NP_001395412.1:p.Leu680Terfs frameshift nonsense NM_001408484.1:c.2037delC NP_001395413.1:p.Leu680Terfs frameshift nonsense NM_001408485.1:c.2037delC NP_001395414.1:p.Leu680Terfs frameshift nonsense NM_001408489.1:c.2037delC NP_001395418.1:p.Leu680Terfs frameshift nonsense NM_001408490.1:c.2037delC NP_001395419.1:p.Leu680Terfs frameshift nonsense NM_001408491.1:c.2037delC NP_001395420.1:p.Leu680Terfs frameshift nonsense NM_001408492.1:c.2034delC NP_001395421.1:p.Leu679Terfs frameshift nonsense NM_001408493.1:c.2034delC NP_001395422.1:p.Leu679Terfs frameshift nonsense NM_001408494.1:c.2010delC NP_001395423.1:p.Leu671Terfs frameshift nonsense NM_001408495.1:c.2004delC NP_001395424.1:p.Leu669Terfs frameshift nonsense NM_001408496.1:c.1986delC NP_001395425.1:p.Leu663Terfs frameshift nonsense NM_001408497.1:c.1986delC NP_001395426.1:p.Leu663Terfs frameshift nonsense NM_001408498.1:c.1986delC NP_001395427.1:p.Leu663Terfs frameshift nonsense NM_001408499.1:c.1986delC NP_001395428.1:p.Leu663Terfs frameshift nonsense NM_001408500.1:c.1986delC NP_001395429.1:p.Leu663Terfs frameshift nonsense NM_001408501.1:c.1986delC NP_001395430.1:p.Leu663Terfs frameshift nonsense NM_001408502.1:c.1983delC NP_001395431.1:p.Leu662Terfs frameshift nonsense NM_001408503.1:c.1983delC NP_001395432.1:p.Leu662Terfs frameshift nonsense NM_001408504.1:c.1983delC NP_001395433.1:p.Leu662Terfs frameshift nonsense NM_001408505.1:c.1980delC NP_001395434.1:p.Leu661Terfs frameshift nonsense NM_001408506.1:c.1923delC NP_001395435.1:p.Leu642Terfs frameshift nonsense NM_001408507.1:c.1920delC NP_001395436.1:p.Leu641Terfs frameshift nonsense NM_001408508.1:c.1911delC NP_001395437.1:p.Leu638Terfs frameshift nonsense NM_001408509.1:c.1908delC NP_001395438.1:p.Leu637Terfs frameshift nonsense NM_001408510.1:c.1869delC NP_001395439.1:p.Leu624Terfs frameshift nonsense NM_001408511.1:c.1866delC NP_001395440.1:p.Leu623Terfs frameshift nonsense NM_001408512.1:c.1746delC NP_001395441.1:p.Leu583Terfs frameshift nonsense NM_001408513.1:c.1719delC NP_001395442.1:p.Leu574Terfs frameshift nonsense NM_001408514.1:c.1323delC NP_001395443.1:p.Leu442Terfs frameshift nonsense NM_007294.3:c.5559delC NP_009225.1:p.Leu1854Terfs frameshift nonsense NM_007297.4:c.5419del NP_009228.2:p.Tyr1806_Leu1807insTer nonsense NM_007298.4:c.2247delC NP_009229.2:p.Leu750Terfs frameshift nonsense NM_007299.4:c.*74del 3 prime UTR NM_007300.4:c.5623del NP_009231.2:p.Tyr1874_Leu1875insTer nonsense NM_007304.2:c.2247delC NP_009235.2:p.Leu750Terfs frameshift nonsense NR_027676.2:n.5737del non-coding transcript variant NC_000017.11:g.43045711del NC_000017.10:g.41197728del NG_005905.2:g.172274del LRG_292:g.172274del LRG_292t1:c.5560del LRG_292p1:p.Tyr1853_Leu1854insTer - Protein change
- -
- Other names
-
5679delC
- Canonical SPDI
- NC_000017.11:43045709:GG:G
-
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. |
|---|---|---|---|---|
| Pathogenic (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257739.6 |
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. |
|
|---|---|---|---|---|---|
|
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: SCV000323892.2
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: SCV000326361.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
Comment:
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. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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 rs886040306 ...
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.