For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys987Asnfs*13) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2961del (p.Lys987fs)
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.
Pathogenic
2
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.2961del (p.Lys987fs)
Variation ID: 1798175 Accession: VCV001798175.5
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 41244587 (GRCh37) [ NCBI UCSC ] 17: 43092570 (GRCh38) [ 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 Nov 29, 2022 May 1, 2024 Feb 2, 2022 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.2961del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys987fs frameshift NM_001407571.1:c.2748del NP_001394500.1:p.Lys916fs frameshift NM_001407581.1:c.2961del NP_001394510.1:p.Lys987fs frameshift NM_001407582.1:c.2961del NP_001394511.1:p.Lys987fs frameshift NM_001407583.1:c.2961del NP_001394512.1:p.Lys987fs frameshift NM_001407585.1:c.2961del NP_001394514.1:p.Lys987fs frameshift NM_001407587.1:c.2958del NP_001394516.1:p.Lys986fs frameshift NM_001407590.1:c.2958del NP_001394519.1:p.Lys986fs frameshift NM_001407591.1:c.2958del NP_001394520.1:p.Lys986fs frameshift NM_001407593.1:c.2961del NP_001394522.1:p.Lys987fs frameshift NM_001407594.1:c.2961del NP_001394523.1:p.Lys987fs frameshift NM_001407596.1:c.2961del NP_001394525.1:p.Lys987fs frameshift NM_001407597.1:c.2961del NP_001394526.1:p.Lys987fs frameshift NM_001407598.1:c.2961del NP_001394527.1:p.Lys987fs frameshift NM_001407602.1:c.2961del NP_001394531.1:p.Lys987fs frameshift NM_001407603.1:c.2961del NP_001394532.1:p.Lys987fs frameshift NM_001407605.1:c.2961del NP_001394534.1:p.Lys987fs frameshift NM_001407610.1:c.2958del NP_001394539.1:p.Lys986fs frameshift NM_001407611.1:c.2958del NP_001394540.1:p.Lys986fs frameshift NM_001407612.1:c.2958del NP_001394541.1:p.Lys986fs frameshift NM_001407613.1:c.2958del NP_001394542.1:p.Lys986fs frameshift NM_001407614.1:c.2958del NP_001394543.1:p.Lys986fs frameshift NM_001407615.1:c.2958del NP_001394544.1:p.Lys986fs frameshift NM_001407616.1:c.2961del NP_001394545.1:p.Lys987fs frameshift NM_001407617.1:c.2961del NP_001394546.1:p.Lys987fs frameshift NM_001407618.1:c.2961del NP_001394547.1:p.Lys987fs frameshift NM_001407619.1:c.2961del NP_001394548.1:p.Lys987fs frameshift NM_001407620.1:c.2961del NP_001394549.1:p.Lys987fs frameshift NM_001407621.1:c.2961del NP_001394550.1:p.Lys987fs frameshift NM_001407622.1:c.2961del NP_001394551.1:p.Lys987fs frameshift NM_001407623.1:c.2961del NP_001394552.1:p.Lys987fs frameshift NM_001407624.1:c.2961del NP_001394553.1:p.Lys987fs frameshift NM_001407625.1:c.2961del NP_001394554.1:p.Lys987fs frameshift NM_001407626.1:c.2961del NP_001394555.1:p.Lys987fs frameshift NM_001407627.1:c.2958del NP_001394556.1:p.Lys986fs frameshift NM_001407628.1:c.2958del NP_001394557.1:p.Lys986fs frameshift NM_001407629.1:c.2958del NP_001394558.1:p.Lys986fs frameshift NM_001407630.1:c.2958del NP_001394559.1:p.Lys986fs frameshift NM_001407631.1:c.2958del NP_001394560.1:p.Lys986fs frameshift NM_001407632.1:c.2958del NP_001394561.1:p.Lys986fs frameshift NM_001407633.1:c.2958del NP_001394562.1:p.Lys986fs frameshift NM_001407634.1:c.2958del NP_001394563.1:p.Lys986fs frameshift NM_001407635.1:c.2958del NP_001394564.1:p.Lys986fs frameshift NM_001407636.1:c.2958del NP_001394565.1:p.Lys986fs frameshift NM_001407637.1:c.2958del NP_001394566.1:p.Lys986fs frameshift NM_001407638.1:c.2958del NP_001394567.1:p.Lys986fs frameshift NM_001407639.1:c.2961del NP_001394568.1:p.Lys987fs frameshift NM_001407640.1:c.2961del NP_001394569.1:p.Lys987fs frameshift NM_001407641.1:c.2961del NP_001394570.1:p.Lys987fs frameshift NM_001407642.1:c.2961del NP_001394571.1:p.Lys987fs frameshift NM_001407644.1:c.2958del NP_001394573.1:p.Lys986fs frameshift NM_001407645.1:c.2958del NP_001394574.1:p.Lys986fs frameshift NM_001407646.1:c.2952del NP_001394575.1:p.Lys984fs frameshift NM_001407647.1:c.2952del NP_001394576.1:p.Lys984fs frameshift NM_001407648.1:c.2838del NP_001394577.1:p.Lys946fs frameshift NM_001407649.1:c.2835del NP_001394578.1:p.Lys945fs frameshift NM_001407652.1:c.2961del NP_001394581.1:p.Lys987fs frameshift NM_001407653.1:c.2883del NP_001394582.1:p.Lys961fs frameshift NM_001407654.1:c.2883del NP_001394583.1:p.Lys961fs frameshift NM_001407655.1:c.2883del NP_001394584.1:p.Lys961fs frameshift NM_001407656.1:c.2883del NP_001394585.1:p.Lys961fs frameshift NM_001407657.1:c.2883del NP_001394586.1:p.Lys961fs frameshift NM_001407658.1:c.2883del NP_001394587.1:p.Lys961fs frameshift NM_001407659.1:c.2880del NP_001394588.1:p.Lys960fs frameshift NM_001407660.1:c.2880del NP_001394589.1:p.Lys960fs frameshift NM_001407661.1:c.2880del NP_001394590.1:p.Lys960fs frameshift NM_001407662.1:c.2880del NP_001394591.1:p.Lys960fs frameshift NM_001407663.1:c.2883del NP_001394592.1:p.Lys961fs frameshift NM_001407664.1:c.2838del NP_001394593.1:p.Lys946fs frameshift NM_001407665.1:c.2838del NP_001394594.1:p.Lys946fs frameshift NM_001407666.1:c.2838del NP_001394595.1:p.Lys946fs frameshift NM_001407667.1:c.2838del NP_001394596.1:p.Lys946fs frameshift NM_001407668.1:c.2838del NP_001394597.1:p.Lys946fs frameshift NM_001407669.1:c.2838del NP_001394598.1:p.Lys946fs frameshift NM_001407670.1:c.2835del NP_001394599.1:p.Lys945fs frameshift NM_001407671.1:c.2835del NP_001394600.1:p.Lys945fs frameshift NM_001407672.1:c.2835del NP_001394601.1:p.Lys945fs frameshift NM_001407673.1:c.2835del NP_001394602.1:p.Lys945fs frameshift NM_001407674.1:c.2838del NP_001394603.1:p.Lys946fs frameshift NM_001407675.1:c.2838del NP_001394604.1:p.Lys946fs frameshift NM_001407676.1:c.2838del NP_001394605.1:p.Lys946fs frameshift NM_001407677.1:c.2838del NP_001394606.1:p.Lys946fs frameshift NM_001407678.1:c.2838del NP_001394607.1:p.Lys946fs frameshift NM_001407679.1:c.2838del NP_001394608.1:p.Lys946fs frameshift NM_001407680.1:c.2838del NP_001394609.1:p.Lys946fs frameshift NM_001407681.1:c.2838del NP_001394610.1:p.Lys946fs frameshift NM_001407682.1:c.2838del NP_001394611.1:p.Lys946fs frameshift NM_001407683.1:c.2838del NP_001394612.1:p.Lys946fs frameshift NM_001407684.1:c.2961del NP_001394613.1:p.Lys987fs frameshift NM_001407685.1:c.2835del NP_001394614.1:p.Lys945fs frameshift NM_001407686.1:c.2835del NP_001394615.1:p.Lys945fs frameshift NM_001407687.1:c.2835del NP_001394616.1:p.Lys945fs frameshift NM_001407688.1:c.2835del NP_001394617.1:p.Lys945fs frameshift NM_001407689.1:c.2835del NP_001394618.1:p.Lys945fs frameshift NM_001407690.1:c.2835del NP_001394619.1:p.Lys945fs frameshift NM_001407691.1:c.2835del NP_001394620.1:p.Lys945fs frameshift NM_001407692.1:c.2820del NP_001394621.1:p.Lys940fs frameshift NM_001407694.1:c.2820del NP_001394623.1:p.Lys940fs frameshift NM_001407695.1:c.2820del NP_001394624.1:p.Lys940fs frameshift NM_001407696.1:c.2820del NP_001394625.1:p.Lys940fs frameshift NM_001407697.1:c.2820del NP_001394626.1:p.Lys940fs frameshift NM_001407698.1:c.2820del NP_001394627.1:p.Lys940fs frameshift NM_001407724.1:c.2820del NP_001394653.1:p.Lys940fs frameshift NM_001407725.1:c.2820del NP_001394654.1:p.Lys940fs frameshift NM_001407726.1:c.2820del NP_001394655.1:p.Lys940fs frameshift NM_001407727.1:c.2820del NP_001394656.1:p.Lys940fs frameshift NM_001407728.1:c.2820del NP_001394657.1:p.Lys940fs frameshift NM_001407729.1:c.2820del NP_001394658.1:p.Lys940fs frameshift NM_001407730.1:c.2820del NP_001394659.1:p.Lys940fs frameshift NM_001407731.1:c.2820del NP_001394660.1:p.Lys940fs frameshift NM_001407732.1:c.2820del NP_001394661.1:p.Lys940fs frameshift NM_001407733.1:c.2820del NP_001394662.1:p.Lys940fs frameshift NM_001407734.1:c.2820del NP_001394663.1:p.Lys940fs frameshift NM_001407735.1:c.2820del NP_001394664.1:p.Lys940fs frameshift NM_001407736.1:c.2820del NP_001394665.1:p.Lys940fs frameshift NM_001407737.1:c.2820del NP_001394666.1:p.Lys940fs frameshift NM_001407738.1:c.2820del NP_001394667.1:p.Lys940fs frameshift NM_001407739.1:c.2820del NP_001394668.1:p.Lys940fs frameshift NM_001407740.1:c.2817del NP_001394669.1:p.Lys939fs frameshift NM_001407741.1:c.2817del NP_001394670.1:p.Lys939fs frameshift NM_001407742.1:c.2817del NP_001394671.1:p.Lys939fs frameshift NM_001407743.1:c.2817del NP_001394672.1:p.Lys939fs frameshift NM_001407744.1:c.2817del NP_001394673.1:p.Lys939fs frameshift NM_001407745.1:c.2817del NP_001394674.1:p.Lys939fs frameshift NM_001407746.1:c.2817del NP_001394675.1:p.Lys939fs frameshift NM_001407747.1:c.2817del NP_001394676.1:p.Lys939fs frameshift NM_001407748.1:c.2817del NP_001394677.1:p.Lys939fs frameshift NM_001407749.1:c.2817del NP_001394678.1:p.Lys939fs frameshift NM_001407750.1:c.2820del NP_001394679.1:p.Lys940fs frameshift NM_001407751.1:c.2820del NP_001394680.1:p.Lys940fs frameshift NM_001407752.1:c.2820del NP_001394681.1:p.Lys940fs frameshift NM_001407838.1:c.2817del NP_001394767.1:p.Lys939fs frameshift NM_001407839.1:c.2817del NP_001394768.1:p.Lys939fs frameshift NM_001407841.1:c.2817del NP_001394770.1:p.Lys939fs frameshift NM_001407842.1:c.2817del NP_001394771.1:p.Lys939fs frameshift NM_001407843.1:c.2817del NP_001394772.1:p.Lys939fs frameshift NM_001407844.1:c.2817del NP_001394773.1:p.Lys939fs frameshift NM_001407845.1:c.2817del NP_001394774.1:p.Lys939fs frameshift NM_001407846.1:c.2817del NP_001394775.1:p.Lys939fs frameshift NM_001407847.1:c.2817del NP_001394776.1:p.Lys939fs frameshift NM_001407848.1:c.2817del NP_001394777.1:p.Lys939fs frameshift NM_001407849.1:c.2817del NP_001394778.1:p.Lys939fs frameshift NM_001407850.1:c.2820del NP_001394779.1:p.Lys940fs frameshift NM_001407851.1:c.2820del NP_001394780.1:p.Lys940fs frameshift NM_001407852.1:c.2820del NP_001394781.1:p.Lys940fs frameshift NM_001407853.1:c.2748del NP_001394782.1:p.Lys916fs frameshift NM_001407854.1:c.2961del NP_001394783.1:p.Lys987fs frameshift NM_001407858.1:c.2961del NP_001394787.1:p.Lys987fs frameshift NM_001407859.1:c.2961del NP_001394788.1:p.Lys987fs frameshift NM_001407860.1:c.2958del NP_001394789.1:p.Lys986fs frameshift NM_001407861.1:c.2958del NP_001394790.1:p.Lys986fs frameshift NM_001407862.1:c.2760del NP_001394791.1:p.Lys920fs frameshift NM_001407863.1:c.2838del NP_001394792.1:p.Lys946fs frameshift NM_001407874.1:c.2757del NP_001394803.1:p.Lys919fs frameshift NM_001407875.1:c.2757del NP_001394804.1:p.Lys919fs frameshift NM_001407879.1:c.2751del NP_001394808.1:p.Lys917fs frameshift NM_001407881.1:c.2751del NP_001394810.1:p.Lys917fs frameshift NM_001407882.1:c.2751del NP_001394811.1:p.Lys917fs frameshift NM_001407884.1:c.2751del NP_001394813.1:p.Lys917fs frameshift NM_001407885.1:c.2751del NP_001394814.1:p.Lys917fs frameshift NM_001407886.1:c.2751del NP_001394815.1:p.Lys917fs frameshift NM_001407887.1:c.2751del NP_001394816.1:p.Lys917fs frameshift NM_001407889.1:c.2751del NP_001394818.1:p.Lys917fs frameshift NM_001407894.1:c.2748del NP_001394823.1:p.Lys916fs frameshift NM_001407895.1:c.2748del NP_001394824.1:p.Lys916fs frameshift NM_001407896.1:c.2748del NP_001394825.1:p.Lys916fs frameshift NM_001407897.1:c.2748del NP_001394826.1:p.Lys916fs frameshift NM_001407898.1:c.2748del NP_001394827.1:p.Lys916fs frameshift NM_001407899.1:c.2748del NP_001394828.1:p.Lys916fs frameshift NM_001407900.1:c.2751del NP_001394829.1:p.Lys917fs frameshift NM_001407902.1:c.2751del NP_001394831.1:p.Lys917fs frameshift NM_001407904.1:c.2751del NP_001394833.1:p.Lys917fs frameshift NM_001407906.1:c.2751del NP_001394835.1:p.Lys917fs frameshift NM_001407907.1:c.2751del NP_001394836.1:p.Lys917fs frameshift NM_001407908.1:c.2751del NP_001394837.1:p.Lys917fs frameshift NM_001407909.1:c.2751del NP_001394838.1:p.Lys917fs frameshift NM_001407910.1:c.2751del NP_001394839.1:p.Lys917fs frameshift NM_001407915.1:c.2748del NP_001394844.1:p.Lys916fs frameshift NM_001407916.1:c.2748del NP_001394845.1:p.Lys916fs frameshift NM_001407917.1:c.2748del NP_001394846.1:p.Lys916fs frameshift NM_001407918.1:c.2748del NP_001394847.1:p.Lys916fs frameshift NM_001407919.1:c.2838del NP_001394848.1:p.Lys946fs frameshift NM_001407920.1:c.2697del NP_001394849.1:p.Lys899fs frameshift NM_001407921.1:c.2697del NP_001394850.1:p.Lys899fs frameshift NM_001407922.1:c.2697del NP_001394851.1:p.Lys899fs frameshift NM_001407923.1:c.2697del NP_001394852.1:p.Lys899fs frameshift NM_001407924.1:c.2697del NP_001394853.1:p.Lys899fs frameshift NM_001407925.1:c.2697del NP_001394854.1:p.Lys899fs frameshift NM_001407926.1:c.2697del NP_001394855.1:p.Lys899fs frameshift NM_001407927.1:c.2697del NP_001394856.1:p.Lys899fs frameshift NM_001407928.1:c.2697del NP_001394857.1:p.Lys899fs frameshift NM_001407929.1:c.2697del NP_001394858.1:p.Lys899fs frameshift NM_001407930.1:c.2694del NP_001394859.1:p.Lys898fs frameshift NM_001407931.1:c.2694del NP_001394860.1:p.Lys898fs frameshift NM_001407932.1:c.2694del NP_001394861.1:p.Lys898fs frameshift NM_001407933.1:c.2697del NP_001394862.1:p.Lys899fs frameshift NM_001407934.1:c.2694del NP_001394863.1:p.Lys898fs frameshift NM_001407935.1:c.2697del NP_001394864.1:p.Lys899fs frameshift NM_001407936.1:c.2694del NP_001394865.1:p.Lys898fs frameshift NM_001407937.1:c.2838del NP_001394866.1:p.Lys946fs frameshift NM_001407938.1:c.2838del NP_001394867.1:p.Lys946fs frameshift NM_001407939.1:c.2838del NP_001394868.1:p.Lys946fs frameshift NM_001407940.1:c.2835del NP_001394869.1:p.Lys945fs frameshift NM_001407941.1:c.2835del NP_001394870.1:p.Lys945fs frameshift NM_001407942.1:c.2820del NP_001394871.1:p.Lys940fs frameshift NM_001407943.1:c.2817del NP_001394872.1:p.Lys939fs frameshift NM_001407944.1:c.2820del NP_001394873.1:p.Lys940fs frameshift NM_001407945.1:c.2820del NP_001394874.1:p.Lys940fs frameshift NM_001407946.1:c.2628del NP_001394875.1:p.Lys876fs frameshift NM_001407947.1:c.2628del NP_001394876.1:p.Lys876fs frameshift NM_001407948.1:c.2628del NP_001394877.1:p.Lys876fs frameshift NM_001407949.1:c.2628del NP_001394878.1:p.Lys876fs frameshift NM_001407950.1:c.2628del NP_001394879.1:p.Lys876fs frameshift NM_001407951.1:c.2628del NP_001394880.1:p.Lys876fs frameshift NM_001407952.1:c.2628del NP_001394881.1:p.Lys876fs frameshift NM_001407953.1:c.2628del NP_001394882.1:p.Lys876fs frameshift NM_001407954.1:c.2625del NP_001394883.1:p.Lys875fs frameshift NM_001407955.1:c.2625del NP_001394884.1:p.Lys875fs frameshift NM_001407956.1:c.2625del NP_001394885.1:p.Lys875fs frameshift NM_001407957.1:c.2628del NP_001394886.1:p.Lys876fs frameshift NM_001407958.1:c.2625del NP_001394887.1:p.Lys875fs frameshift NM_001407959.1:c.2580del NP_001394888.1:p.Lys860fs frameshift NM_001407960.1:c.2580del NP_001394889.1:p.Lys860fs frameshift NM_001407962.1:c.2577del NP_001394891.1:p.Lys859fs frameshift NM_001407963.1:c.2580del NP_001394892.1:p.Lys860fs frameshift NM_001407964.1:c.2817del NP_001394893.1:p.Lys939fs frameshift NM_001407965.1:c.2457del NP_001394894.1:p.Lys819fs frameshift NM_001407966.1:c.2073del NP_001394895.1:p.Lys691fs frameshift NM_001407967.1:c.2073del NP_001394896.1:p.Lys691fs frameshift NM_001407968.1:c.788-431del intron variant NM_001407969.1:c.788-431del intron variant NM_001407970.1:c.788-1538del intron variant NM_001407971.1:c.788-1538del intron variant NM_001407972.1:c.785-1538del intron variant NM_001407973.1:c.788-1538del intron variant NM_001407974.1:c.788-1538del intron variant NM_001407975.1:c.788-1538del intron variant NM_001407976.1:c.788-1538del intron variant NM_001407977.1:c.788-1538del intron variant NM_001407978.1:c.788-1538del intron variant NM_001407979.1:c.788-1538del intron variant NM_001407980.1:c.788-1538del intron variant NM_001407981.1:c.788-1538del intron variant NM_001407982.1:c.788-1538del intron variant NM_001407983.1:c.788-1538del intron variant NM_001407984.1:c.785-1538del intron variant NM_001407985.1:c.785-1538del intron variant NM_001407986.1:c.785-1538del intron variant NM_001407990.1:c.788-1538del intron variant NM_001407991.1:c.785-1538del intron variant NM_001407992.1:c.785-1538del intron variant NM_001407993.1:c.788-1538del intron variant NM_001408392.1:c.785-1538del intron variant NM_001408396.1:c.785-1538del intron variant NM_001408397.1:c.785-1538del intron variant NM_001408398.1:c.785-1538del intron variant NM_001408399.1:c.785-1538del intron variant NM_001408400.1:c.785-1538del intron variant NM_001408401.1:c.785-1538del intron variant NM_001408402.1:c.785-1538del intron variant NM_001408403.1:c.788-1538del intron variant NM_001408404.1:c.788-1538del intron variant NM_001408406.1:c.791-1547del intron variant NM_001408407.1:c.785-1538del intron variant NM_001408408.1:c.779-1538del intron variant NM_001408409.1:c.710-1538del intron variant NM_001408410.1:c.647-1538del intron variant NM_001408411.1:c.710-1538del intron variant NM_001408412.1:c.710-1538del intron variant NM_001408413.1:c.707-1538del intron variant NM_001408414.1:c.710-1538del intron variant NM_001408415.1:c.710-1538del intron variant NM_001408416.1:c.707-1538del intron variant NM_001408418.1:c.671-1538del intron variant NM_001408419.1:c.671-1538del intron variant NM_001408420.1:c.671-1538del intron variant NM_001408421.1:c.668-1538del intron variant NM_001408422.1:c.671-1538del intron variant NM_001408423.1:c.671-1538del intron variant NM_001408424.1:c.668-1538del intron variant NM_001408425.1:c.665-1538del intron variant NM_001408426.1:c.665-1538del intron variant NM_001408427.1:c.665-1538del intron variant NM_001408428.1:c.665-1538del intron variant NM_001408429.1:c.665-1538del intron variant NM_001408430.1:c.665-1538del intron variant NM_001408431.1:c.668-1538del intron variant NM_001408432.1:c.662-1538del intron variant NM_001408433.1:c.662-1538del intron variant NM_001408434.1:c.662-1538del intron variant NM_001408435.1:c.662-1538del intron variant NM_001408436.1:c.665-1538del intron variant NM_001408437.1:c.665-1538del intron variant NM_001408438.1:c.665-1538del intron variant NM_001408439.1:c.665-1538del intron variant NM_001408440.1:c.665-1538del intron variant NM_001408441.1:c.665-1538del intron variant NM_001408442.1:c.665-1538del intron variant NM_001408443.1:c.665-1538del intron variant NM_001408444.1:c.665-1538del intron variant NM_001408445.1:c.662-1538del intron variant NM_001408446.1:c.662-1538del intron variant NM_001408447.1:c.662-1538del intron variant NM_001408448.1:c.662-1538del intron variant NM_001408450.1:c.662-1538del intron variant NM_001408451.1:c.653-1538del intron variant NM_001408452.1:c.647-1538del intron variant NM_001408453.1:c.647-1538del intron variant NM_001408454.1:c.647-1538del intron variant NM_001408455.1:c.647-1538del intron variant NM_001408456.1:c.647-1538del intron variant NM_001408457.1:c.647-1538del intron variant NM_001408458.1:c.647-1538del intron variant NM_001408459.1:c.647-1538del intron variant NM_001408460.1:c.647-1538del intron variant NM_001408461.1:c.647-1538del intron variant NM_001408462.1:c.644-1538del intron variant NM_001408463.1:c.644-1538del intron variant NM_001408464.1:c.644-1538del intron variant NM_001408465.1:c.644-1538del intron variant NM_001408466.1:c.647-1538del intron variant NM_001408467.1:c.647-1538del intron variant NM_001408468.1:c.644-1538del intron variant NM_001408469.1:c.647-1538del intron variant NM_001408470.1:c.644-1538del intron variant NM_001408472.1:c.788-1538del intron variant NM_001408473.1:c.785-1538del intron variant NM_001408474.1:c.587-1538del intron variant NM_001408475.1:c.584-1538del intron variant NM_001408476.1:c.587-1538del intron variant NM_001408478.1:c.578-1538del intron variant NM_001408479.1:c.578-1538del intron variant NM_001408480.1:c.578-1538del intron variant NM_001408481.1:c.578-1538del intron variant NM_001408482.1:c.578-1538del intron variant NM_001408483.1:c.578-1538del intron variant NM_001408484.1:c.578-1538del intron variant NM_001408485.1:c.578-1538del intron variant NM_001408489.1:c.578-1538del intron variant NM_001408490.1:c.575-1538del intron variant NM_001408491.1:c.575-1538del intron variant NM_001408492.1:c.578-1538del intron variant NM_001408493.1:c.575-1538del intron variant NM_001408494.1:c.548-1538del intron variant NM_001408495.1:c.545-1538del intron variant NM_001408496.1:c.524-1538del intron variant NM_001408497.1:c.524-1538del intron variant NM_001408498.1:c.524-1538del intron variant NM_001408499.1:c.524-1538del intron variant NM_001408500.1:c.524-1538del intron variant NM_001408501.1:c.524-1538del intron variant NM_001408502.1:c.455-1538del intron variant NM_001408503.1:c.521-1538del intron variant NM_001408504.1:c.521-1538del intron variant NM_001408505.1:c.521-1538del intron variant NM_001408506.1:c.461-1538del intron variant NM_001408507.1:c.461-1538del intron variant NM_001408508.1:c.452-1538del intron variant NM_001408509.1:c.452-1538del intron variant NM_001408510.1:c.407-1538del intron variant NM_001408511.1:c.404-1538del intron variant NM_001408512.1:c.284-1538del intron variant NM_001408513.1:c.578-1538del intron variant NM_001408514.1:c.578-1538del intron variant NM_007297.4:c.2820del NP_009228.2:p.Lys940fs frameshift NM_007298.4:c.788-1538del intron variant NM_007299.4:c.788-1538del intron variant NM_007300.4:c.2961del NP_009231.2:p.Lys987fs frameshift NR_027676.1:n.3097delG NC_000017.11:g.43092570del NC_000017.10:g.41244587del NG_005905.2:g.125414del LRG_292:g.125414del LRG_292t1:c.2961del LRG_292p1:p.Lys987Asnfs - Protein change
- K940fs, K987fs, K860fs, K899fs, K917fs, K919fs, K946fs, K984fs, K691fs, K945fs, K986fs, K819fs, K859fs, K875fs, K898fs, K916fs, K920fs, K960fs, K961fs, K876fs, K939fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43092569:C:
-
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 (1) |
criteria provided, single submitter
|
Jun 12, 2017 | RCV002441989.2 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Feb 2, 2022 | RCV003102924.3 |
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
(Feb 02, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV003312634.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. … (more)
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys987Asnfs*13) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). (less)
|
|
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Pathogenic
(Jun 12, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002749131.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.2961delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2961, causing … (more)
The c.2961delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2961, causing a translational frameshift with a predicted alternate stop codon (p.K987Nfs*13). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
Comment:
Comment:
The c.2961delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2961, causing a translational frameshift with a predicted alternate stop codon (p.K987Nfs*13). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
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:
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys987Asnfs*13) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Comment:
The c.2961delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2961, causing a translational frameshift with a predicted alternate stop codon (p.K987Nfs*13). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for this variant ...
HelpRecord last updated Sep 29, 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.