ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2224AAT[1] (p.Asn743del)
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.2224AAT[1] (p.Asn743del)
Variation ID: 2774853 Accession: VCV002774853.2
- Type and length
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Microsatellite, 3 bp
- Location
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Cytogenetic: 17q21.31 17: 43093302-43093304 (GRCh38) [ NCBI UCSC ] 17: 41245319-41245321 (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 Feb 14, 2024 Apr 20, 2024 Aug 15, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2224AAT[1] MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn743del inframe deletion NM_007294.4:c.2227_2229del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
inframe deletion NM_001407571.1:c.2011AAT[1] NP_001394500.1:p.Asn672del inframe deletion NM_001407581.1:c.2224AAT[1] NP_001394510.1:p.Asn743del inframe deletion NM_001407582.1:c.2224AAT[1] NP_001394511.1:p.Asn743del inframe deletion NM_001407583.1:c.2224AAT[1] NP_001394512.1:p.Asn743del inframe deletion NM_001407585.1:c.2224AAT[1] NP_001394514.1:p.Asn743del inframe deletion NM_001407587.1:c.2221AAT[1] NP_001394516.1:p.Asn742del inframe deletion NM_001407590.1:c.2221AAT[1] NP_001394519.1:p.Asn742del inframe deletion NM_001407591.1:c.2221AAT[1] NP_001394520.1:p.Asn742del inframe deletion NM_001407593.1:c.2224AAT[1] NP_001394522.1:p.Asn743del inframe deletion NM_001407594.1:c.2224AAT[1] NP_001394523.1:p.Asn743del inframe deletion NM_001407596.1:c.2224AAT[1] NP_001394525.1:p.Asn743del inframe deletion NM_001407597.1:c.2224AAT[1] NP_001394526.1:p.Asn743del inframe deletion NM_001407598.1:c.2224AAT[1] NP_001394527.1:p.Asn743del inframe deletion NM_001407602.1:c.2224AAT[1] NP_001394531.1:p.Asn743del inframe deletion NM_001407603.1:c.2224AAT[1] NP_001394532.1:p.Asn743del inframe deletion NM_001407605.1:c.2224AAT[1] NP_001394534.1:p.Asn743del inframe deletion NM_001407610.1:c.2221AAT[1] NP_001394539.1:p.Asn742del inframe deletion NM_001407611.1:c.2221AAT[1] NP_001394540.1:p.Asn742del inframe deletion NM_001407612.1:c.2221AAT[1] NP_001394541.1:p.Asn742del inframe deletion NM_001407613.1:c.2221AAT[1] NP_001394542.1:p.Asn742del inframe deletion NM_001407614.1:c.2221AAT[1] NP_001394543.1:p.Asn742del inframe deletion NM_001407615.1:c.2221AAT[1] NP_001394544.1:p.Asn742del inframe deletion NM_001407616.1:c.2224AAT[1] NP_001394545.1:p.Asn743del inframe deletion NM_001407617.1:c.2224AAT[1] NP_001394546.1:p.Asn743del inframe deletion NM_001407618.1:c.2224AAT[1] NP_001394547.1:p.Asn743del inframe deletion NM_001407619.1:c.2224AAT[1] NP_001394548.1:p.Asn743del inframe deletion NM_001407620.1:c.2224AAT[1] NP_001394549.1:p.Asn743del inframe deletion NM_001407621.1:c.2224AAT[1] NP_001394550.1:p.Asn743del inframe deletion NM_001407622.1:c.2224AAT[1] NP_001394551.1:p.Asn743del inframe deletion NM_001407623.1:c.2224AAT[1] NP_001394552.1:p.Asn743del inframe deletion NM_001407624.1:c.2224AAT[1] NP_001394553.1:p.Asn743del inframe deletion NM_001407625.1:c.2224AAT[1] NP_001394554.1:p.Asn743del inframe deletion NM_001407626.1:c.2224AAT[1] NP_001394555.1:p.Asn743del inframe deletion NM_001407627.1:c.2221AAT[1] NP_001394556.1:p.Asn742del inframe deletion NM_001407628.1:c.2221AAT[1] NP_001394557.1:p.Asn742del inframe deletion NM_001407629.1:c.2221AAT[1] NP_001394558.1:p.Asn742del inframe deletion NM_001407630.1:c.2221AAT[1] NP_001394559.1:p.Asn742del inframe deletion NM_001407631.1:c.2221AAT[1] NP_001394560.1:p.Asn742del inframe deletion NM_001407632.1:c.2221AAT[1] NP_001394561.1:p.Asn742del inframe deletion NM_001407633.1:c.2221AAT[1] NP_001394562.1:p.Asn742del inframe deletion NM_001407634.1:c.2221AAT[1] NP_001394563.1:p.Asn742del inframe deletion NM_001407635.1:c.2221AAT[1] NP_001394564.1:p.Asn742del inframe deletion NM_001407636.1:c.2221AAT[1] NP_001394565.1:p.Asn742del inframe deletion NM_001407637.1:c.2221AAT[1] NP_001394566.1:p.Asn742del inframe deletion NM_001407638.1:c.2221AAT[1] NP_001394567.1:p.Asn742del inframe deletion NM_001407639.1:c.2224AAT[1] NP_001394568.1:p.Asn743del inframe deletion NM_001407640.1:c.2224AAT[1] NP_001394569.1:p.Asn743del inframe deletion NM_001407641.1:c.2224AAT[1] NP_001394570.1:p.Asn743del inframe deletion NM_001407642.1:c.2224AAT[1] NP_001394571.1:p.Asn743del inframe deletion NM_001407644.1:c.2221AAT[1] NP_001394573.1:p.Asn742del inframe deletion NM_001407645.1:c.2221AAT[1] NP_001394574.1:p.Asn742del inframe deletion NM_001407646.1:c.2215AAT[1] NP_001394575.1:p.Asn740del inframe deletion NM_001407647.1:c.2215AAT[1] NP_001394576.1:p.Asn740del inframe deletion NM_001407648.1:c.2101AAT[1] NP_001394577.1:p.Asn702del inframe deletion NM_001407649.1:c.2098AAT[1] NP_001394578.1:p.Asn701del inframe deletion NM_001407652.1:c.2224AAT[1] NP_001394581.1:p.Asn743del inframe deletion NM_001407653.1:c.2146AAT[1] NP_001394582.1:p.Asn717del inframe deletion NM_001407654.1:c.2146AAT[1] NP_001394583.1:p.Asn717del inframe deletion NM_001407655.1:c.2146AAT[1] NP_001394584.1:p.Asn717del inframe deletion NM_001407656.1:c.2146AAT[1] NP_001394585.1:p.Asn717del inframe deletion NM_001407657.1:c.2146AAT[1] NP_001394586.1:p.Asn717del inframe deletion NM_001407658.1:c.2146AAT[1] NP_001394587.1:p.Asn717del inframe deletion NM_001407659.1:c.2143AAT[1] NP_001394588.1:p.Asn716del inframe deletion NM_001407660.1:c.2143AAT[1] NP_001394589.1:p.Asn716del inframe deletion NM_001407661.1:c.2143AAT[1] NP_001394590.1:p.Asn716del inframe deletion NM_001407662.1:c.2143AAT[1] NP_001394591.1:p.Asn716del inframe deletion NM_001407663.1:c.2146AAT[1] NP_001394592.1:p.Asn717del inframe deletion NM_001407664.1:c.2101AAT[1] NP_001394593.1:p.Asn702del inframe deletion NM_001407665.1:c.2101AAT[1] NP_001394594.1:p.Asn702del inframe deletion NM_001407666.1:c.2101AAT[1] NP_001394595.1:p.Asn702del inframe deletion NM_001407667.1:c.2101AAT[1] NP_001394596.1:p.Asn702del inframe deletion NM_001407668.1:c.2101AAT[1] NP_001394597.1:p.Asn702del inframe deletion NM_001407669.1:c.2101AAT[1] NP_001394598.1:p.Asn702del inframe deletion NM_001407670.1:c.2098AAT[1] NP_001394599.1:p.Asn701del inframe deletion NM_001407671.1:c.2098AAT[1] NP_001394600.1:p.Asn701del inframe deletion NM_001407672.1:c.2098AAT[1] NP_001394601.1:p.Asn701del inframe deletion NM_001407673.1:c.2098AAT[1] NP_001394602.1:p.Asn701del inframe deletion NM_001407674.1:c.2101AAT[1] NP_001394603.1:p.Asn702del inframe deletion NM_001407675.1:c.2101AAT[1] NP_001394604.1:p.Asn702del inframe deletion NM_001407676.1:c.2101AAT[1] NP_001394605.1:p.Asn702del inframe deletion NM_001407677.1:c.2101AAT[1] NP_001394606.1:p.Asn702del inframe deletion NM_001407678.1:c.2101AAT[1] NP_001394607.1:p.Asn702del inframe deletion NM_001407679.1:c.2101AAT[1] NP_001394608.1:p.Asn702del inframe deletion NM_001407680.1:c.2101AAT[1] NP_001394609.1:p.Asn702del inframe deletion NM_001407681.1:c.2101AAT[1] NP_001394610.1:p.Asn702del inframe deletion NM_001407682.1:c.2101AAT[1] NP_001394611.1:p.Asn702del inframe deletion NM_001407683.1:c.2101AAT[1] NP_001394612.1:p.Asn702del inframe deletion NM_001407684.1:c.2224AAT[1] NP_001394613.1:p.Asn743del inframe deletion NM_001407685.1:c.2098AAT[1] NP_001394614.1:p.Asn701del inframe deletion NM_001407686.1:c.2098AAT[1] NP_001394615.1:p.Asn701del inframe deletion NM_001407687.1:c.2098AAT[1] NP_001394616.1:p.Asn701del inframe deletion NM_001407688.1:c.2098AAT[1] NP_001394617.1:p.Asn701del inframe deletion NM_001407689.1:c.2098AAT[1] NP_001394618.1:p.Asn701del inframe deletion NM_001407690.1:c.2098AAT[1] NP_001394619.1:p.Asn701del inframe deletion NM_001407691.1:c.2098AAT[1] NP_001394620.1:p.Asn701del inframe deletion NM_001407692.1:c.2083AAT[1] NP_001394621.1:p.Asn696del inframe deletion NM_001407694.1:c.2083AAT[1] NP_001394623.1:p.Asn696del inframe deletion NM_001407695.1:c.2083AAT[1] NP_001394624.1:p.Asn696del inframe deletion NM_001407696.1:c.2083AAT[1] NP_001394625.1:p.Asn696del inframe deletion NM_001407697.1:c.2083AAT[1] NP_001394626.1:p.Asn696del inframe deletion NM_001407698.1:c.2083AAT[1] NP_001394627.1:p.Asn696del inframe deletion NM_001407724.1:c.2083AAT[1] NP_001394653.1:p.Asn696del inframe deletion NM_001407725.1:c.2083AAT[1] NP_001394654.1:p.Asn696del inframe deletion NM_001407726.1:c.2083AAT[1] NP_001394655.1:p.Asn696del inframe deletion NM_001407727.1:c.2083AAT[1] NP_001394656.1:p.Asn696del inframe deletion NM_001407728.1:c.2083AAT[1] NP_001394657.1:p.Asn696del inframe deletion NM_001407729.1:c.2083AAT[1] NP_001394658.1:p.Asn696del inframe deletion NM_001407730.1:c.2083AAT[1] NP_001394659.1:p.Asn696del inframe deletion NM_001407731.1:c.2083AAT[1] NP_001394660.1:p.Asn696del inframe deletion NM_001407732.1:c.2083AAT[1] NP_001394661.1:p.Asn696del inframe deletion NM_001407733.1:c.2083AAT[1] NP_001394662.1:p.Asn696del inframe deletion NM_001407734.1:c.2083AAT[1] NP_001394663.1:p.Asn696del inframe deletion NM_001407735.1:c.2083AAT[1] NP_001394664.1:p.Asn696del inframe deletion NM_001407736.1:c.2083AAT[1] NP_001394665.1:p.Asn696del inframe deletion NM_001407737.1:c.2083AAT[1] NP_001394666.1:p.Asn696del inframe deletion NM_001407738.1:c.2083AAT[1] NP_001394667.1:p.Asn696del inframe deletion NM_001407739.1:c.2083AAT[1] NP_001394668.1:p.Asn696del inframe deletion NM_001407740.1:c.2080AAT[1] NP_001394669.1:p.Asn695del inframe deletion NM_001407741.1:c.2080AAT[1] NP_001394670.1:p.Asn695del inframe deletion NM_001407742.1:c.2080AAT[1] NP_001394671.1:p.Asn695del inframe deletion NM_001407743.1:c.2080AAT[1] NP_001394672.1:p.Asn695del inframe deletion NM_001407744.1:c.2080AAT[1] NP_001394673.1:p.Asn695del inframe deletion NM_001407745.1:c.2080AAT[1] NP_001394674.1:p.Asn695del inframe deletion NM_001407746.1:c.2080AAT[1] NP_001394675.1:p.Asn695del inframe deletion NM_001407747.1:c.2080AAT[1] NP_001394676.1:p.Asn695del inframe deletion NM_001407748.1:c.2080AAT[1] NP_001394677.1:p.Asn695del inframe deletion NM_001407749.1:c.2080AAT[1] NP_001394678.1:p.Asn695del inframe deletion NM_001407750.1:c.2083AAT[1] NP_001394679.1:p.Asn696del inframe deletion NM_001407751.1:c.2083AAT[1] NP_001394680.1:p.Asn696del inframe deletion NM_001407752.1:c.2083AAT[1] NP_001394681.1:p.Asn696del inframe deletion NM_001407838.1:c.2080AAT[1] NP_001394767.1:p.Asn695del inframe deletion NM_001407839.1:c.2080AAT[1] NP_001394768.1:p.Asn695del inframe deletion NM_001407841.1:c.2080AAT[1] NP_001394770.1:p.Asn695del inframe deletion NM_001407842.1:c.2080AAT[1] NP_001394771.1:p.Asn695del inframe deletion NM_001407843.1:c.2080AAT[1] NP_001394772.1:p.Asn695del inframe deletion NM_001407844.1:c.2080AAT[1] NP_001394773.1:p.Asn695del inframe deletion NM_001407845.1:c.2080AAT[1] NP_001394774.1:p.Asn695del inframe deletion NM_001407846.1:c.2080AAT[1] NP_001394775.1:p.Asn695del inframe deletion NM_001407847.1:c.2080AAT[1] NP_001394776.1:p.Asn695del inframe deletion NM_001407848.1:c.2080AAT[1] NP_001394777.1:p.Asn695del inframe deletion NM_001407849.1:c.2080AAT[1] NP_001394778.1:p.Asn695del inframe deletion NM_001407850.1:c.2083AAT[1] NP_001394779.1:p.Asn696del inframe deletion NM_001407851.1:c.2083AAT[1] NP_001394780.1:p.Asn696del inframe deletion NM_001407852.1:c.2083AAT[1] NP_001394781.1:p.Asn696del inframe deletion NM_001407853.1:c.2011AAT[1] NP_001394782.1:p.Asn672del inframe deletion NM_001407854.1:c.2224AAT[1] NP_001394783.1:p.Asn743del inframe deletion NM_001407858.1:c.2224AAT[1] NP_001394787.1:p.Asn743del inframe deletion NM_001407859.1:c.2224AAT[1] NP_001394788.1:p.Asn743del inframe deletion NM_001407860.1:c.2221AAT[1] NP_001394789.1:p.Asn742del inframe deletion NM_001407861.1:c.2221AAT[1] NP_001394790.1:p.Asn742del inframe deletion NM_001407862.1:c.2023AAT[1] NP_001394791.1:p.Asn676del inframe deletion NM_001407863.1:c.2101AAT[1] NP_001394792.1:p.Asn702del inframe deletion NM_001407874.1:c.2020AAT[1] NP_001394803.1:p.Asn675del inframe deletion NM_001407875.1:c.2020AAT[1] NP_001394804.1:p.Asn675del inframe deletion NM_001407879.1:c.2014AAT[1] NP_001394808.1:p.Asn673del inframe deletion NM_001407881.1:c.2014AAT[1] NP_001394810.1:p.Asn673del inframe deletion NM_001407882.1:c.2014AAT[1] NP_001394811.1:p.Asn673del inframe deletion NM_001407884.1:c.2014AAT[1] NP_001394813.1:p.Asn673del inframe deletion NM_001407885.1:c.2014AAT[1] NP_001394814.1:p.Asn673del inframe deletion NM_001407886.1:c.2014AAT[1] NP_001394815.1:p.Asn673del inframe deletion NM_001407887.1:c.2014AAT[1] NP_001394816.1:p.Asn673del inframe deletion NM_001407889.1:c.2014AAT[1] NP_001394818.1:p.Asn673del inframe deletion NM_001407894.1:c.2011AAT[1] NP_001394823.1:p.Asn672del inframe deletion NM_001407895.1:c.2011AAT[1] NP_001394824.1:p.Asn672del inframe deletion NM_001407896.1:c.2011AAT[1] NP_001394825.1:p.Asn672del inframe deletion NM_001407897.1:c.2011AAT[1] NP_001394826.1:p.Asn672del inframe deletion NM_001407898.1:c.2011AAT[1] NP_001394827.1:p.Asn672del inframe deletion NM_001407899.1:c.2011AAT[1] NP_001394828.1:p.Asn672del inframe deletion NM_001407900.1:c.2014AAT[1] NP_001394829.1:p.Asn673del inframe deletion NM_001407902.1:c.2014AAT[1] NP_001394831.1:p.Asn673del inframe deletion NM_001407904.1:c.2014AAT[1] NP_001394833.1:p.Asn673del inframe deletion NM_001407906.1:c.2014AAT[1] NP_001394835.1:p.Asn673del inframe deletion NM_001407907.1:c.2014AAT[1] NP_001394836.1:p.Asn673del inframe deletion NM_001407908.1:c.2014AAT[1] NP_001394837.1:p.Asn673del inframe deletion NM_001407909.1:c.2014AAT[1] NP_001394838.1:p.Asn673del inframe deletion NM_001407910.1:c.2014AAT[1] NP_001394839.1:p.Asn673del inframe deletion NM_001407915.1:c.2011AAT[1] NP_001394844.1:p.Asn672del inframe deletion NM_001407916.1:c.2011AAT[1] NP_001394845.1:p.Asn672del inframe deletion NM_001407917.1:c.2011AAT[1] NP_001394846.1:p.Asn672del inframe deletion NM_001407918.1:c.2011AAT[1] NP_001394847.1:p.Asn672del inframe deletion NM_001407919.1:c.2101AAT[1] NP_001394848.1:p.Asn702del inframe deletion NM_001407920.1:c.1960AAT[1] NP_001394849.1:p.Asn655del inframe deletion NM_001407921.1:c.1960AAT[1] NP_001394850.1:p.Asn655del inframe deletion NM_001407922.1:c.1960AAT[1] NP_001394851.1:p.Asn655del inframe deletion NM_001407923.1:c.1960AAT[1] NP_001394852.1:p.Asn655del inframe deletion NM_001407924.1:c.1960AAT[1] NP_001394853.1:p.Asn655del inframe deletion NM_001407925.1:c.1960AAT[1] NP_001394854.1:p.Asn655del inframe deletion NM_001407926.1:c.1960AAT[1] NP_001394855.1:p.Asn655del inframe deletion NM_001407927.1:c.1960AAT[1] NP_001394856.1:p.Asn655del inframe deletion NM_001407928.1:c.1960AAT[1] NP_001394857.1:p.Asn655del inframe deletion NM_001407929.1:c.1960AAT[1] NP_001394858.1:p.Asn655del inframe deletion NM_001407930.1:c.1957AAT[1] NP_001394859.1:p.Asn654del inframe deletion NM_001407931.1:c.1957AAT[1] NP_001394860.1:p.Asn654del inframe deletion NM_001407932.1:c.1957AAT[1] NP_001394861.1:p.Asn654del inframe deletion NM_001407933.1:c.1960AAT[1] NP_001394862.1:p.Asn655del inframe deletion NM_001407934.1:c.1957AAT[1] NP_001394863.1:p.Asn654del inframe deletion NM_001407935.1:c.1960AAT[1] NP_001394864.1:p.Asn655del inframe deletion NM_001407936.1:c.1957AAT[1] NP_001394865.1:p.Asn654del inframe deletion NM_001407937.1:c.2101AAT[1] NP_001394866.1:p.Asn702del inframe deletion NM_001407938.1:c.2101AAT[1] NP_001394867.1:p.Asn702del inframe deletion NM_001407939.1:c.2101AAT[1] NP_001394868.1:p.Asn702del inframe deletion NM_001407940.1:c.2098AAT[1] NP_001394869.1:p.Asn701del inframe deletion NM_001407941.1:c.2098AAT[1] NP_001394870.1:p.Asn701del inframe deletion NM_001407942.1:c.2083AAT[1] NP_001394871.1:p.Asn696del inframe deletion NM_001407943.1:c.2080AAT[1] NP_001394872.1:p.Asn695del inframe deletion NM_001407944.1:c.2083AAT[1] NP_001394873.1:p.Asn696del inframe deletion NM_001407945.1:c.2083AAT[1] NP_001394874.1:p.Asn696del inframe deletion NM_001407946.1:c.1891AAT[1] NP_001394875.1:p.Asn632del inframe deletion NM_001407947.1:c.1891AAT[1] NP_001394876.1:p.Asn632del inframe deletion NM_001407948.1:c.1891AAT[1] NP_001394877.1:p.Asn632del inframe deletion NM_001407949.1:c.1891AAT[1] NP_001394878.1:p.Asn632del inframe deletion NM_001407950.1:c.1891AAT[1] NP_001394879.1:p.Asn632del inframe deletion NM_001407951.1:c.1891AAT[1] NP_001394880.1:p.Asn632del inframe deletion NM_001407952.1:c.1891AAT[1] NP_001394881.1:p.Asn632del inframe deletion NM_001407953.1:c.1891AAT[1] NP_001394882.1:p.Asn632del inframe deletion NM_001407954.1:c.1888AAT[1] NP_001394883.1:p.Asn631del inframe deletion NM_001407955.1:c.1888AAT[1] NP_001394884.1:p.Asn631del inframe deletion NM_001407956.1:c.1888AAT[1] NP_001394885.1:p.Asn631del inframe deletion NM_001407957.1:c.1891AAT[1] NP_001394886.1:p.Asn632del inframe deletion NM_001407958.1:c.1888AAT[1] NP_001394887.1:p.Asn631del inframe deletion NM_001407959.1:c.1843AAT[1] NP_001394888.1:p.Asn616del inframe deletion NM_001407960.1:c.1843AAT[1] NP_001394889.1:p.Asn616del inframe deletion NM_001407962.1:c.1840AAT[1] NP_001394891.1:p.Asn615del inframe deletion NM_001407963.1:c.1843AAT[1] NP_001394892.1:p.Asn616del inframe deletion NM_001407964.1:c.2080AAT[1] NP_001394893.1:p.Asn695del inframe deletion NM_001407965.1:c.1720AAT[1] NP_001394894.1:p.Asn575del inframe deletion NM_001407966.1:c.1336AAT[1] NP_001394895.1:p.Asn447del inframe deletion NM_001407967.1:c.1336AAT[1] NP_001394896.1:p.Asn447del inframe deletion NM_001407968.1:c.788-1165_788-1163del intron variant NM_001407969.1:c.788-1165_788-1163del intron variant NM_001407970.1:c.787+1440_787+1442del intron variant NM_001407971.1:c.787+1440_787+1442del intron variant NM_001407972.1:c.784+1440_784+1442del intron variant NM_001407973.1:c.787+1440_787+1442del intron variant NM_001407974.1:c.787+1440_787+1442del intron variant NM_001407975.1:c.787+1440_787+1442del intron variant NM_001407976.1:c.787+1440_787+1442del intron variant NM_001407977.1:c.787+1440_787+1442del intron variant NM_001407978.1:c.787+1440_787+1442del intron variant NM_001407979.1:c.787+1440_787+1442del intron variant NM_001407980.1:c.787+1440_787+1442del intron variant NM_001407981.1:c.787+1440_787+1442del intron variant NM_001407982.1:c.787+1440_787+1442del intron variant NM_001407983.1:c.787+1440_787+1442del intron variant NM_001407984.1:c.784+1440_784+1442del intron variant NM_001407985.1:c.784+1440_784+1442del intron variant NM_001407986.1:c.784+1440_784+1442del intron variant NM_001407990.1:c.787+1440_787+1442del intron variant NM_001407991.1:c.784+1440_784+1442del intron variant NM_001407992.1:c.784+1440_784+1442del intron variant NM_001407993.1:c.787+1440_787+1442del intron variant NM_001408392.1:c.784+1440_784+1442del intron variant NM_001408396.1:c.784+1440_784+1442del intron variant NM_001408397.1:c.784+1440_784+1442del intron variant NM_001408398.1:c.784+1440_784+1442del intron variant NM_001408399.1:c.784+1440_784+1442del intron variant NM_001408400.1:c.784+1440_784+1442del intron variant NM_001408401.1:c.784+1440_784+1442del intron variant NM_001408402.1:c.784+1440_784+1442del intron variant NM_001408403.1:c.787+1440_787+1442del intron variant NM_001408404.1:c.787+1440_787+1442del intron variant NM_001408406.1:c.790+1437_790+1439del intron variant NM_001408407.1:c.784+1440_784+1442del intron variant NM_001408408.1:c.778+1440_778+1442del intron variant NM_001408409.1:c.709+1440_709+1442del intron variant NM_001408410.1:c.646+1440_646+1442del intron variant NM_001408411.1:c.709+1440_709+1442del intron variant NM_001408412.1:c.709+1440_709+1442del intron variant NM_001408413.1:c.706+1440_706+1442del intron variant NM_001408414.1:c.709+1440_709+1442del intron variant NM_001408415.1:c.709+1440_709+1442del intron variant NM_001408416.1:c.706+1440_706+1442del intron variant NM_001408418.1:c.671-2272_671-2270del intron variant NM_001408419.1:c.671-2272_671-2270del intron variant NM_001408420.1:c.671-2272_671-2270del intron variant NM_001408421.1:c.668-2272_668-2270del intron variant NM_001408422.1:c.671-2272_671-2270del intron variant NM_001408423.1:c.671-2272_671-2270del intron variant NM_001408424.1:c.668-2272_668-2270del intron variant NM_001408425.1:c.664+1440_664+1442del intron variant NM_001408426.1:c.664+1440_664+1442del intron variant NM_001408427.1:c.664+1440_664+1442del intron variant NM_001408428.1:c.664+1440_664+1442del intron variant NM_001408429.1:c.664+1440_664+1442del intron variant NM_001408430.1:c.664+1440_664+1442del intron variant NM_001408431.1:c.668-2272_668-2270del intron variant NM_001408432.1:c.661+1440_661+1442del intron variant NM_001408433.1:c.661+1440_661+1442del intron variant NM_001408434.1:c.661+1440_661+1442del intron variant NM_001408435.1:c.661+1440_661+1442del intron variant NM_001408436.1:c.664+1440_664+1442del intron variant NM_001408437.1:c.664+1440_664+1442del intron variant NM_001408438.1:c.664+1440_664+1442del intron variant NM_001408439.1:c.664+1440_664+1442del intron variant NM_001408440.1:c.664+1440_664+1442del intron variant NM_001408441.1:c.664+1440_664+1442del intron variant NM_001408442.1:c.664+1440_664+1442del intron variant NM_001408443.1:c.664+1440_664+1442del intron variant NM_001408444.1:c.664+1440_664+1442del intron variant NM_001408445.1:c.661+1440_661+1442del intron variant NM_001408446.1:c.661+1440_661+1442del intron variant NM_001408447.1:c.661+1440_661+1442del intron variant NM_001408448.1:c.661+1440_661+1442del intron variant NM_001408450.1:c.661+1440_661+1442del intron variant NM_001408451.1:c.652+1440_652+1442del intron variant NM_001408452.1:c.646+1440_646+1442del intron variant NM_001408453.1:c.646+1440_646+1442del intron variant NM_001408454.1:c.646+1440_646+1442del intron variant NM_001408455.1:c.646+1440_646+1442del intron variant NM_001408456.1:c.646+1440_646+1442del intron variant NM_001408457.1:c.646+1440_646+1442del intron variant NM_001408458.1:c.646+1440_646+1442del intron variant NM_001408459.1:c.646+1440_646+1442del intron variant NM_001408460.1:c.646+1440_646+1442del intron variant NM_001408461.1:c.646+1440_646+1442del intron variant NM_001408462.1:c.643+1440_643+1442del intron variant NM_001408463.1:c.643+1440_643+1442del intron variant NM_001408464.1:c.643+1440_643+1442del intron variant NM_001408465.1:c.643+1440_643+1442del intron variant NM_001408466.1:c.646+1440_646+1442del intron variant NM_001408467.1:c.646+1440_646+1442del intron variant NM_001408468.1:c.643+1440_643+1442del intron variant NM_001408469.1:c.646+1440_646+1442del intron variant NM_001408470.1:c.643+1440_643+1442del intron variant NM_001408472.1:c.787+1440_787+1442del intron variant NM_001408473.1:c.784+1440_784+1442del intron variant NM_001408474.1:c.586+1440_586+1442del intron variant NM_001408475.1:c.583+1440_583+1442del intron variant NM_001408476.1:c.586+1440_586+1442del intron variant NM_001408478.1:c.577+1440_577+1442del intron variant NM_001408479.1:c.577+1440_577+1442del intron variant NM_001408480.1:c.577+1440_577+1442del intron variant NM_001408481.1:c.577+1440_577+1442del intron variant NM_001408482.1:c.577+1440_577+1442del intron variant NM_001408483.1:c.577+1440_577+1442del intron variant NM_001408484.1:c.577+1440_577+1442del intron variant NM_001408485.1:c.577+1440_577+1442del intron variant NM_001408489.1:c.577+1440_577+1442del intron variant NM_001408490.1:c.574+1440_574+1442del intron variant NM_001408491.1:c.574+1440_574+1442del intron variant NM_001408492.1:c.577+1440_577+1442del intron variant NM_001408493.1:c.574+1440_574+1442del intron variant NM_001408494.1:c.548-2272_548-2270del intron variant NM_001408495.1:c.545-2272_545-2270del intron variant NM_001408496.1:c.523+1440_523+1442del intron variant NM_001408497.1:c.523+1440_523+1442del intron variant NM_001408498.1:c.523+1440_523+1442del intron variant NM_001408499.1:c.523+1440_523+1442del intron variant NM_001408500.1:c.523+1440_523+1442del intron variant NM_001408501.1:c.523+1440_523+1442del intron variant NM_001408502.1:c.454+1440_454+1442del intron variant NM_001408503.1:c.520+1440_520+1442del intron variant NM_001408504.1:c.520+1440_520+1442del intron variant NM_001408505.1:c.520+1440_520+1442del intron variant NM_001408506.1:c.461-2272_461-2270del intron variant NM_001408507.1:c.461-2272_461-2270del intron variant NM_001408508.1:c.451+1440_451+1442del intron variant NM_001408509.1:c.451+1440_451+1442del intron variant NM_001408510.1:c.406+1440_406+1442del intron variant NM_001408511.1:c.404-2272_404-2270del intron variant NM_001408512.1:c.283+1440_283+1442del intron variant NM_001408513.1:c.577+1440_577+1442del intron variant NM_001408514.1:c.577+1440_577+1442del intron variant NM_007297.4:c.2083AAT[1] NP_009228.2:p.Asn696del inframe deletion NM_007298.4:c.787+1440_787+1442del intron variant NM_007299.4:c.787+1440_787+1442del intron variant NM_007300.4:c.2224AAT[1] NP_009231.2:p.Asn743del inframe deletion NR_027676.2:n.2400_2402TAA[1] NC_000017.11:g.43093303TTA[1] NC_000017.10:g.41245320TTA[1] NG_005905.2:g.124677AAT[1] LRG_292:g.124677AAT[1] LRG_292t1:c.2223_2225TAA[1] LRG_292p1:p.Asn743del - Protein change
- N575del, N631del, N654del, N673del, N717del, N740del, N632del, N675del, N695del, N672del, N676del, N696del, N742del, N447del, N615del, N616del, N655del, N701del, N702del, N716del, N743del
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093301:ATTATTA:ATTA
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12880 | 14665 |
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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Uncertain significance (1) |
criteria provided, single submitter
|
Aug 4, 2023 | RCV003586037.1 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Aug 15, 2023 | RCV004011585.2 |
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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Uncertain significance
(Aug 04, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV004360279.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This variant causes an in-frame deletion of one amino acid in the BRCA1 protein. To our knowledge, functional studies have not been reported for this … (more)
This variant causes an in-frame deletion of one amino acid in the BRCA1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with ovarian cancer; this individual also carried a pathogenic variant in the MSH6 gene that could explain the observed phenotype (PMID: 36169650). This variant has been identified in 1/251102 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
|
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Uncertain Significance
(Aug 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004826590.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Comment:
This variant causes an in-frame deletion of one amino acid in the BRCA1 protein. To our knowledge, functional studies have not been reported for this … (more)
This variant causes an in-frame deletion of one amino acid in the BRCA1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with ovarian cancer; this individual also carried a pathogenic variant in the MSH6 gene that could explain the observed phenotype (PMID: 36169650). This variant has been identified in 1/251102 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Number of individuals with the variant: 1
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer. | Flaum N | Genetics in medicine : official journal of the American College of Medical Genetics | 2022 | PMID: 36169650 |
Text-mined citations for this variant ...
HelpRecord last updated May 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.