ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2999del (p.Glu1000fs)
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
-
NM_007294.4(BRCA1):c.2999del (p.Glu1000fs)
Variation ID: 54744 Accession: VCV000054744.21
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43092532 (GRCh38) [ NCBI UCSC ] 17: 41244549 (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 Sep 27, 2014 May 1, 2024 Apr 22, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.2999del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1000fs frameshift NM_001407571.1:c.2786del NP_001394500.1:p.Glu929fs frameshift NM_001407581.1:c.2999del NP_001394510.1:p.Glu1000fs frameshift NM_001407582.1:c.2999del NP_001394511.1:p.Glu1000fs frameshift NM_001407583.1:c.2999del NP_001394512.1:p.Glu1000fs frameshift NM_001407585.1:c.2999del NP_001394514.1:p.Glu1000fs frameshift NM_001407587.1:c.2996del NP_001394516.1:p.Glu999fs frameshift NM_001407590.1:c.2996del NP_001394519.1:p.Glu999fs frameshift NM_001407591.1:c.2996del NP_001394520.1:p.Glu999fs frameshift NM_001407593.1:c.2999del NP_001394522.1:p.Glu1000fs frameshift NM_001407594.1:c.2999del NP_001394523.1:p.Glu1000fs frameshift NM_001407596.1:c.2999del NP_001394525.1:p.Glu1000fs frameshift NM_001407597.1:c.2999del NP_001394526.1:p.Glu1000fs frameshift NM_001407598.1:c.2999del NP_001394527.1:p.Glu1000fs frameshift NM_001407602.1:c.2999del NP_001394531.1:p.Glu1000fs frameshift NM_001407603.1:c.2999del NP_001394532.1:p.Glu1000fs frameshift NM_001407605.1:c.2999del NP_001394534.1:p.Glu1000fs frameshift NM_001407610.1:c.2996del NP_001394539.1:p.Glu999fs frameshift NM_001407611.1:c.2996del NP_001394540.1:p.Glu999fs frameshift NM_001407612.1:c.2996del NP_001394541.1:p.Glu999fs frameshift NM_001407613.1:c.2996del NP_001394542.1:p.Glu999fs frameshift NM_001407614.1:c.2996del NP_001394543.1:p.Glu999fs frameshift NM_001407615.1:c.2996del NP_001394544.1:p.Glu999fs frameshift NM_001407616.1:c.2999del NP_001394545.1:p.Glu1000fs frameshift NM_001407617.1:c.2999del NP_001394546.1:p.Glu1000fs frameshift NM_001407618.1:c.2999del NP_001394547.1:p.Glu1000fs frameshift NM_001407619.1:c.2999del NP_001394548.1:p.Glu1000fs frameshift NM_001407620.1:c.2999del NP_001394549.1:p.Glu1000fs frameshift NM_001407621.1:c.2999del NP_001394550.1:p.Glu1000fs frameshift NM_001407622.1:c.2999del NP_001394551.1:p.Glu1000fs frameshift NM_001407623.1:c.2999del NP_001394552.1:p.Glu1000fs frameshift NM_001407624.1:c.2999del NP_001394553.1:p.Glu1000fs frameshift NM_001407625.1:c.2999del NP_001394554.1:p.Glu1000fs frameshift NM_001407626.1:c.2999del NP_001394555.1:p.Glu1000fs frameshift NM_001407627.1:c.2996del NP_001394556.1:p.Glu999fs frameshift NM_001407628.1:c.2996del NP_001394557.1:p.Glu999fs frameshift NM_001407629.1:c.2996del NP_001394558.1:p.Glu999fs frameshift NM_001407630.1:c.2996del NP_001394559.1:p.Glu999fs frameshift NM_001407631.1:c.2996del NP_001394560.1:p.Glu999fs frameshift NM_001407632.1:c.2996del NP_001394561.1:p.Glu999fs frameshift NM_001407633.1:c.2996del NP_001394562.1:p.Glu999fs frameshift NM_001407634.1:c.2996del NP_001394563.1:p.Glu999fs frameshift NM_001407635.1:c.2996del NP_001394564.1:p.Glu999fs frameshift NM_001407636.1:c.2996del NP_001394565.1:p.Glu999fs frameshift NM_001407637.1:c.2996del NP_001394566.1:p.Glu999fs frameshift NM_001407638.1:c.2996del NP_001394567.1:p.Glu999fs frameshift NM_001407639.1:c.2999del NP_001394568.1:p.Glu1000fs frameshift NM_001407640.1:c.2999del NP_001394569.1:p.Glu1000fs frameshift NM_001407641.1:c.2999del NP_001394570.1:p.Glu1000fs frameshift NM_001407642.1:c.2999del NP_001394571.1:p.Glu1000fs frameshift NM_001407644.1:c.2996del NP_001394573.1:p.Glu999fs frameshift NM_001407645.1:c.2996del NP_001394574.1:p.Glu999fs frameshift NM_001407646.1:c.2990del NP_001394575.1:p.Glu997fs frameshift NM_001407647.1:c.2990del NP_001394576.1:p.Glu997fs frameshift NM_001407648.1:c.2876del NP_001394577.1:p.Glu959fs frameshift NM_001407649.1:c.2873del NP_001394578.1:p.Glu958fs frameshift NM_001407652.1:c.2999del NP_001394581.1:p.Glu1000fs frameshift NM_001407653.1:c.2921del NP_001394582.1:p.Glu974fs frameshift NM_001407654.1:c.2921del NP_001394583.1:p.Glu974fs frameshift NM_001407655.1:c.2921del NP_001394584.1:p.Glu974fs frameshift NM_001407656.1:c.2921del NP_001394585.1:p.Glu974fs frameshift NM_001407657.1:c.2921del NP_001394586.1:p.Glu974fs frameshift NM_001407658.1:c.2921del NP_001394587.1:p.Glu974fs frameshift NM_001407659.1:c.2918del NP_001394588.1:p.Glu973fs frameshift NM_001407660.1:c.2918del NP_001394589.1:p.Glu973fs frameshift NM_001407661.1:c.2918del NP_001394590.1:p.Glu973fs frameshift NM_001407662.1:c.2918del NP_001394591.1:p.Glu973fs frameshift NM_001407663.1:c.2921del NP_001394592.1:p.Glu974fs frameshift NM_001407664.1:c.2876del NP_001394593.1:p.Glu959fs frameshift NM_001407665.1:c.2876del NP_001394594.1:p.Glu959fs frameshift NM_001407666.1:c.2876del NP_001394595.1:p.Glu959fs frameshift NM_001407667.1:c.2876del NP_001394596.1:p.Glu959fs frameshift NM_001407668.1:c.2876del NP_001394597.1:p.Glu959fs frameshift NM_001407669.1:c.2876del NP_001394598.1:p.Glu959fs frameshift NM_001407670.1:c.2873del NP_001394599.1:p.Glu958fs frameshift NM_001407671.1:c.2873del NP_001394600.1:p.Glu958fs frameshift NM_001407672.1:c.2873del NP_001394601.1:p.Glu958fs frameshift NM_001407673.1:c.2873del NP_001394602.1:p.Glu958fs frameshift NM_001407674.1:c.2876del NP_001394603.1:p.Glu959fs frameshift NM_001407675.1:c.2876del NP_001394604.1:p.Glu959fs frameshift NM_001407676.1:c.2876del NP_001394605.1:p.Glu959fs frameshift NM_001407677.1:c.2876del NP_001394606.1:p.Glu959fs frameshift NM_001407678.1:c.2876del NP_001394607.1:p.Glu959fs frameshift NM_001407679.1:c.2876del NP_001394608.1:p.Glu959fs frameshift NM_001407680.1:c.2876del NP_001394609.1:p.Glu959fs frameshift NM_001407681.1:c.2876del NP_001394610.1:p.Glu959fs frameshift NM_001407682.1:c.2876del NP_001394611.1:p.Glu959fs frameshift NM_001407683.1:c.2876del NP_001394612.1:p.Glu959fs frameshift NM_001407684.1:c.2999del NP_001394613.1:p.Glu1000fs frameshift NM_001407685.1:c.2873del NP_001394614.1:p.Glu958fs frameshift NM_001407686.1:c.2873del NP_001394615.1:p.Glu958fs frameshift NM_001407687.1:c.2873del NP_001394616.1:p.Glu958fs frameshift NM_001407688.1:c.2873del NP_001394617.1:p.Glu958fs frameshift NM_001407689.1:c.2873del NP_001394618.1:p.Glu958fs frameshift NM_001407690.1:c.2873del NP_001394619.1:p.Glu958fs frameshift NM_001407691.1:c.2873del NP_001394620.1:p.Glu958fs frameshift NM_001407692.1:c.2858del NP_001394621.1:p.Glu953fs frameshift NM_001407694.1:c.2858del NP_001394623.1:p.Glu953fs frameshift NM_001407695.1:c.2858del NP_001394624.1:p.Glu953fs frameshift NM_001407696.1:c.2858del NP_001394625.1:p.Glu953fs frameshift NM_001407697.1:c.2858del NP_001394626.1:p.Glu953fs frameshift NM_001407698.1:c.2858del NP_001394627.1:p.Glu953fs frameshift NM_001407724.1:c.2858del NP_001394653.1:p.Glu953fs frameshift NM_001407725.1:c.2858del NP_001394654.1:p.Glu953fs frameshift NM_001407726.1:c.2858del NP_001394655.1:p.Glu953fs frameshift NM_001407727.1:c.2858del NP_001394656.1:p.Glu953fs frameshift NM_001407728.1:c.2858del NP_001394657.1:p.Glu953fs frameshift NM_001407729.1:c.2858del NP_001394658.1:p.Glu953fs frameshift NM_001407730.1:c.2858del NP_001394659.1:p.Glu953fs frameshift NM_001407731.1:c.2858del NP_001394660.1:p.Glu953fs frameshift NM_001407732.1:c.2858del NP_001394661.1:p.Glu953fs frameshift NM_001407733.1:c.2858del NP_001394662.1:p.Glu953fs frameshift NM_001407734.1:c.2858del NP_001394663.1:p.Glu953fs frameshift NM_001407735.1:c.2858del NP_001394664.1:p.Glu953fs frameshift NM_001407736.1:c.2858del NP_001394665.1:p.Glu953fs frameshift NM_001407737.1:c.2858del NP_001394666.1:p.Glu953fs frameshift NM_001407738.1:c.2858del NP_001394667.1:p.Glu953fs frameshift NM_001407739.1:c.2858del NP_001394668.1:p.Glu953fs frameshift NM_001407740.1:c.2855del NP_001394669.1:p.Glu952fs frameshift NM_001407741.1:c.2855del NP_001394670.1:p.Glu952fs frameshift NM_001407742.1:c.2855del NP_001394671.1:p.Glu952fs frameshift NM_001407743.1:c.2855del NP_001394672.1:p.Glu952fs frameshift NM_001407744.1:c.2855del NP_001394673.1:p.Glu952fs frameshift NM_001407745.1:c.2855del NP_001394674.1:p.Glu952fs frameshift NM_001407746.1:c.2855del NP_001394675.1:p.Glu952fs frameshift NM_001407747.1:c.2855del NP_001394676.1:p.Glu952fs frameshift NM_001407748.1:c.2855del NP_001394677.1:p.Glu952fs frameshift NM_001407749.1:c.2855del NP_001394678.1:p.Glu952fs frameshift NM_001407750.1:c.2858del NP_001394679.1:p.Glu953fs frameshift NM_001407751.1:c.2858del NP_001394680.1:p.Glu953fs frameshift NM_001407752.1:c.2858del NP_001394681.1:p.Glu953fs frameshift NM_001407838.1:c.2855del NP_001394767.1:p.Glu952fs frameshift NM_001407839.1:c.2855del NP_001394768.1:p.Glu952fs frameshift NM_001407841.1:c.2855del NP_001394770.1:p.Glu952fs frameshift NM_001407842.1:c.2855del NP_001394771.1:p.Glu952fs frameshift NM_001407843.1:c.2855del NP_001394772.1:p.Glu952fs frameshift NM_001407844.1:c.2855del NP_001394773.1:p.Glu952fs frameshift NM_001407845.1:c.2855del NP_001394774.1:p.Glu952fs frameshift NM_001407846.1:c.2855del NP_001394775.1:p.Glu952fs frameshift NM_001407847.1:c.2855del NP_001394776.1:p.Glu952fs frameshift NM_001407848.1:c.2855del NP_001394777.1:p.Glu952fs frameshift NM_001407849.1:c.2855del NP_001394778.1:p.Glu952fs frameshift NM_001407850.1:c.2858del NP_001394779.1:p.Glu953fs frameshift NM_001407851.1:c.2858del NP_001394780.1:p.Glu953fs frameshift NM_001407852.1:c.2858del NP_001394781.1:p.Glu953fs frameshift NM_001407853.1:c.2786del NP_001394782.1:p.Glu929fs frameshift NM_001407854.1:c.2999del NP_001394783.1:p.Glu1000fs frameshift NM_001407858.1:c.2999del NP_001394787.1:p.Glu1000fs frameshift NM_001407859.1:c.2999del NP_001394788.1:p.Glu1000fs frameshift NM_001407860.1:c.2996del NP_001394789.1:p.Glu999fs frameshift NM_001407861.1:c.2996del NP_001394790.1:p.Glu999fs frameshift NM_001407862.1:c.2798del NP_001394791.1:p.Glu933fs frameshift NM_001407863.1:c.2876del NP_001394792.1:p.Glu959fs frameshift NM_001407874.1:c.2795del NP_001394803.1:p.Glu932fs frameshift NM_001407875.1:c.2795del NP_001394804.1:p.Glu932fs frameshift NM_001407879.1:c.2789del NP_001394808.1:p.Glu930fs frameshift NM_001407881.1:c.2789del NP_001394810.1:p.Glu930fs frameshift NM_001407882.1:c.2789del NP_001394811.1:p.Glu930fs frameshift NM_001407884.1:c.2789del NP_001394813.1:p.Glu930fs frameshift NM_001407885.1:c.2789del NP_001394814.1:p.Glu930fs frameshift NM_001407886.1:c.2789del NP_001394815.1:p.Glu930fs frameshift NM_001407887.1:c.2789del NP_001394816.1:p.Glu930fs frameshift NM_001407889.1:c.2789del NP_001394818.1:p.Glu930fs frameshift NM_001407894.1:c.2786del NP_001394823.1:p.Glu929fs frameshift NM_001407895.1:c.2786del NP_001394824.1:p.Glu929fs frameshift NM_001407896.1:c.2786del NP_001394825.1:p.Glu929fs frameshift NM_001407897.1:c.2786del NP_001394826.1:p.Glu929fs frameshift NM_001407898.1:c.2786del NP_001394827.1:p.Glu929fs frameshift NM_001407899.1:c.2786del NP_001394828.1:p.Glu929fs frameshift NM_001407900.1:c.2789del NP_001394829.1:p.Glu930fs frameshift NM_001407902.1:c.2789del NP_001394831.1:p.Glu930fs frameshift NM_001407904.1:c.2789del NP_001394833.1:p.Glu930fs frameshift NM_001407906.1:c.2789del NP_001394835.1:p.Glu930fs frameshift NM_001407907.1:c.2789del NP_001394836.1:p.Glu930fs frameshift NM_001407908.1:c.2789del NP_001394837.1:p.Glu930fs frameshift NM_001407909.1:c.2789del NP_001394838.1:p.Glu930fs frameshift NM_001407910.1:c.2789del NP_001394839.1:p.Glu930fs frameshift NM_001407915.1:c.2786del NP_001394844.1:p.Glu929fs frameshift NM_001407916.1:c.2786del NP_001394845.1:p.Glu929fs frameshift NM_001407917.1:c.2786del NP_001394846.1:p.Glu929fs frameshift NM_001407918.1:c.2786del NP_001394847.1:p.Glu929fs frameshift NM_001407919.1:c.2876del NP_001394848.1:p.Glu959fs frameshift NM_001407920.1:c.2735del NP_001394849.1:p.Glu912fs frameshift NM_001407921.1:c.2735del NP_001394850.1:p.Glu912fs frameshift NM_001407922.1:c.2735del NP_001394851.1:p.Glu912fs frameshift NM_001407923.1:c.2735del NP_001394852.1:p.Glu912fs frameshift NM_001407924.1:c.2735del NP_001394853.1:p.Glu912fs frameshift NM_001407925.1:c.2735del NP_001394854.1:p.Glu912fs frameshift NM_001407926.1:c.2735del NP_001394855.1:p.Glu912fs frameshift NM_001407927.1:c.2735del NP_001394856.1:p.Glu912fs frameshift NM_001407928.1:c.2735del NP_001394857.1:p.Glu912fs frameshift NM_001407929.1:c.2735del NP_001394858.1:p.Glu912fs frameshift NM_001407930.1:c.2732del NP_001394859.1:p.Glu911fs frameshift NM_001407931.1:c.2732del NP_001394860.1:p.Glu911fs frameshift NM_001407932.1:c.2732del NP_001394861.1:p.Glu911fs frameshift NM_001407933.1:c.2735del NP_001394862.1:p.Glu912fs frameshift NM_001407934.1:c.2732del NP_001394863.1:p.Glu911fs frameshift NM_001407935.1:c.2735del NP_001394864.1:p.Glu912fs frameshift NM_001407936.1:c.2732del NP_001394865.1:p.Glu911fs frameshift NM_001407937.1:c.2876del NP_001394866.1:p.Glu959fs frameshift NM_001407938.1:c.2876del NP_001394867.1:p.Glu959fs frameshift NM_001407939.1:c.2876del NP_001394868.1:p.Glu959fs frameshift NM_001407940.1:c.2873del NP_001394869.1:p.Glu958fs frameshift NM_001407941.1:c.2873del NP_001394870.1:p.Glu958fs frameshift NM_001407942.1:c.2858del NP_001394871.1:p.Glu953fs frameshift NM_001407943.1:c.2855del NP_001394872.1:p.Glu952fs frameshift NM_001407944.1:c.2858del NP_001394873.1:p.Glu953fs frameshift NM_001407945.1:c.2858del NP_001394874.1:p.Glu953fs frameshift NM_001407946.1:c.2666del NP_001394875.1:p.Glu889fs frameshift NM_001407947.1:c.2666del NP_001394876.1:p.Glu889fs frameshift NM_001407948.1:c.2666del NP_001394877.1:p.Glu889fs frameshift NM_001407949.1:c.2666del NP_001394878.1:p.Glu889fs frameshift NM_001407950.1:c.2666del NP_001394879.1:p.Glu889fs frameshift NM_001407951.1:c.2666del NP_001394880.1:p.Glu889fs frameshift NM_001407952.1:c.2666del NP_001394881.1:p.Glu889fs frameshift NM_001407953.1:c.2666del NP_001394882.1:p.Glu889fs frameshift NM_001407954.1:c.2663del NP_001394883.1:p.Glu888fs frameshift NM_001407955.1:c.2663del NP_001394884.1:p.Glu888fs frameshift NM_001407956.1:c.2663del NP_001394885.1:p.Glu888fs frameshift NM_001407957.1:c.2666del NP_001394886.1:p.Glu889fs frameshift NM_001407958.1:c.2663del NP_001394887.1:p.Glu888fs frameshift NM_001407959.1:c.2618del NP_001394888.1:p.Glu873fs frameshift NM_001407960.1:c.2618del NP_001394889.1:p.Glu873fs frameshift NM_001407962.1:c.2615del NP_001394891.1:p.Glu872fs frameshift NM_001407963.1:c.2618del NP_001394892.1:p.Glu873fs frameshift NM_001407964.1:c.2855del NP_001394893.1:p.Glu952fs frameshift NM_001407965.1:c.2495del NP_001394894.1:p.Glu832fs frameshift NM_001407966.1:c.2111del NP_001394895.1:p.Glu704fs frameshift NM_001407967.1:c.2111del NP_001394896.1:p.Glu704fs frameshift NM_001407968.1:c.788-393del intron variant NM_001407969.1:c.788-393del intron variant NM_001407970.1:c.788-1500del intron variant NM_001407971.1:c.788-1500del intron variant NM_001407972.1:c.785-1500del intron variant NM_001407973.1:c.788-1500del intron variant NM_001407974.1:c.788-1500del intron variant NM_001407975.1:c.788-1500del intron variant NM_001407976.1:c.788-1500del intron variant NM_001407977.1:c.788-1500del intron variant NM_001407978.1:c.788-1500del intron variant NM_001407979.1:c.788-1500del intron variant NM_001407980.1:c.788-1500del intron variant NM_001407981.1:c.788-1500del intron variant NM_001407982.1:c.788-1500del intron variant NM_001407983.1:c.788-1500del intron variant NM_001407984.1:c.785-1500del intron variant NM_001407985.1:c.785-1500del intron variant NM_001407986.1:c.785-1500del intron variant NM_001407990.1:c.788-1500del intron variant NM_001407991.1:c.785-1500del intron variant NM_001407992.1:c.785-1500del intron variant NM_001407993.1:c.788-1500del intron variant NM_001408392.1:c.785-1500del intron variant NM_001408396.1:c.785-1500del intron variant NM_001408397.1:c.785-1500del intron variant NM_001408398.1:c.785-1500del intron variant NM_001408399.1:c.785-1500del intron variant NM_001408400.1:c.785-1500del intron variant NM_001408401.1:c.785-1500del intron variant NM_001408402.1:c.785-1500del intron variant NM_001408403.1:c.788-1500del intron variant NM_001408404.1:c.788-1500del intron variant NM_001408406.1:c.791-1509del intron variant NM_001408407.1:c.785-1500del intron variant NM_001408408.1:c.779-1500del intron variant NM_001408409.1:c.710-1500del intron variant NM_001408410.1:c.647-1500del intron variant NM_001408411.1:c.710-1500del intron variant NM_001408412.1:c.710-1500del intron variant NM_001408413.1:c.707-1500del intron variant NM_001408414.1:c.710-1500del intron variant NM_001408415.1:c.710-1500del intron variant NM_001408416.1:c.707-1500del intron variant NM_001408418.1:c.671-1500del intron variant NM_001408419.1:c.671-1500del intron variant NM_001408420.1:c.671-1500del intron variant NM_001408421.1:c.668-1500del intron variant NM_001408422.1:c.671-1500del intron variant NM_001408423.1:c.671-1500del intron variant NM_001408424.1:c.668-1500del intron variant NM_001408425.1:c.665-1500del intron variant NM_001408426.1:c.665-1500del intron variant NM_001408427.1:c.665-1500del intron variant NM_001408428.1:c.665-1500del intron variant NM_001408429.1:c.665-1500del intron variant NM_001408430.1:c.665-1500del intron variant NM_001408431.1:c.668-1500del intron variant NM_001408432.1:c.662-1500del intron variant NM_001408433.1:c.662-1500del intron variant NM_001408434.1:c.662-1500del intron variant NM_001408435.1:c.662-1500del intron variant NM_001408436.1:c.665-1500del intron variant NM_001408437.1:c.665-1500del intron variant NM_001408438.1:c.665-1500del intron variant NM_001408439.1:c.665-1500del intron variant NM_001408440.1:c.665-1500del intron variant NM_001408441.1:c.665-1500del intron variant NM_001408442.1:c.665-1500del intron variant NM_001408443.1:c.665-1500del intron variant NM_001408444.1:c.665-1500del intron variant NM_001408445.1:c.662-1500del intron variant NM_001408446.1:c.662-1500del intron variant NM_001408447.1:c.662-1500del intron variant NM_001408448.1:c.662-1500del intron variant NM_001408450.1:c.662-1500del intron variant NM_001408451.1:c.653-1500del intron variant NM_001408452.1:c.647-1500del intron variant NM_001408453.1:c.647-1500del intron variant NM_001408454.1:c.647-1500del intron variant NM_001408455.1:c.647-1500del intron variant NM_001408456.1:c.647-1500del intron variant NM_001408457.1:c.647-1500del intron variant NM_001408458.1:c.647-1500del intron variant NM_001408459.1:c.647-1500del intron variant NM_001408460.1:c.647-1500del intron variant NM_001408461.1:c.647-1500del intron variant NM_001408462.1:c.644-1500del intron variant NM_001408463.1:c.644-1500del intron variant NM_001408464.1:c.644-1500del intron variant NM_001408465.1:c.644-1500del intron variant NM_001408466.1:c.647-1500del intron variant NM_001408467.1:c.647-1500del intron variant NM_001408468.1:c.644-1500del intron variant NM_001408469.1:c.647-1500del intron variant NM_001408470.1:c.644-1500del intron variant NM_001408472.1:c.788-1500del intron variant NM_001408473.1:c.785-1500del intron variant NM_001408474.1:c.587-1500del intron variant NM_001408475.1:c.584-1500del intron variant NM_001408476.1:c.587-1500del intron variant NM_001408478.1:c.578-1500del intron variant NM_001408479.1:c.578-1500del intron variant NM_001408480.1:c.578-1500del intron variant NM_001408481.1:c.578-1500del intron variant NM_001408482.1:c.578-1500del intron variant NM_001408483.1:c.578-1500del intron variant NM_001408484.1:c.578-1500del intron variant NM_001408485.1:c.578-1500del intron variant NM_001408489.1:c.578-1500del intron variant NM_001408490.1:c.575-1500del intron variant NM_001408491.1:c.575-1500del intron variant NM_001408492.1:c.578-1500del intron variant NM_001408493.1:c.575-1500del intron variant NM_001408494.1:c.548-1500del intron variant NM_001408495.1:c.545-1500del intron variant NM_001408496.1:c.524-1500del intron variant NM_001408497.1:c.524-1500del intron variant NM_001408498.1:c.524-1500del intron variant NM_001408499.1:c.524-1500del intron variant NM_001408500.1:c.524-1500del intron variant NM_001408501.1:c.524-1500del intron variant NM_001408502.1:c.455-1500del intron variant NM_001408503.1:c.521-1500del intron variant NM_001408504.1:c.521-1500del intron variant NM_001408505.1:c.521-1500del intron variant NM_001408506.1:c.461-1500del intron variant NM_001408507.1:c.461-1500del intron variant NM_001408508.1:c.452-1500del intron variant NM_001408509.1:c.452-1500del intron variant NM_001408510.1:c.407-1500del intron variant NM_001408511.1:c.404-1500del intron variant NM_001408512.1:c.284-1500del intron variant NM_001408513.1:c.578-1500del intron variant NM_001408514.1:c.578-1500del intron variant NM_007297.4:c.2858del NP_009228.2:p.Glu953fs frameshift NM_007298.4:c.788-1500del intron variant NM_007299.4:c.788-1500del intron variant NM_007300.4:c.2999del NP_009231.2:p.Glu1000fs frameshift NR_027676.1:n.3135delA NC_000017.11:g.43092532del NC_000017.10:g.41244549del NG_005905.2:g.125452del LRG_292:g.125452del LRG_292t1:c.2999del LRG_292p1:p.Glu1000Glyfs U14680.1:n.3118delA - Protein change
- E1000fs, E953fs, E832fs, E873fs, E911fs, E932fs, E933fs, E959fs, E704fs, E888fs, E889fs, E973fs, E912fs, E929fs, E930fs, E958fs, E872fs, E952fs, E974fs, E997fs, E999fs
- Other names
- 3118delA
- Canonical SPDI
- NC_000017.11:43092531:T:
-
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.
-
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 |
12876 | 14661 |
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 (3) |
criteria provided, multiple submitters, no conflicts
|
Mar 3, 2023 | RCV000048036.19 | |
Pathogenic (5) |
reviewed by expert panel
|
Apr 22, 2016 | RCV000083193.16 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Nov 9, 2020 | RCV000479376.13 | |
Pathogenic (1) |
criteria provided, single submitter
|
Sep 20, 2022 | RCV001017870.11 |
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
(Apr 22, 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: SCV000282297.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Sep 20, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV001179032.4
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The c.2999delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2999, causing … (more)
The c.2999delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2999, causing a translational frameshift with a predicted alternate stop codon (p.E1000Gfs*24). This alteration has been reported in one individual diagnosed with ovarian cancer unselected for family history and has been reported in other individuals with HBOC syndrome (Zhang S et al. Gynecol. Oncol. 2011 May; 121(2):353-7; Mote PA et al. Genes Chromosomes Cancer 2004 Mar; 39(3):236-48). Of note, this alteration is also known as 3118delA in published literature. In addition to the clinical data presented in the literature, 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)
|
|
Pathogenic
(Apr 08, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001362811.1
First in ClinVar: Jun 22, 2020 Last updated: Jun 22, 2020 |
Comment:
Variant summary: BRCA1 c.2999delA (p.Glu1000GlyfsX24) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.2999delA (p.Glu1000GlyfsX24) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (c.3026C>A, p.Ser1009X; c.3181delA, p.Ile1061fsX1; c.4222C>T, p.Gln1408X). The variant was absent in 245960 control chromosomes (gnomAD). The variant, c.2999delA, has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Rebbeck_2018). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories and one expert panel have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
Pathogenic
(Apr 07, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215170.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
Pathogenic
(Nov 09, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000568135.5
First in ClinVar: Apr 27, 2017 Last updated: Jul 18, 2021 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Truncating … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Observed in individuals with BRCA1-related cancers (Judkins 2005, Risch 2006, John 2007, Spearman 2008); Not observed in large population cohorts (Lek 2016); Also known as 3118delA; This variant is associated with the following publications: (PMID: 18824701, 21324516, 17148771, 18159056, 16267036, 14732925) (less)
|
|
Pathogenic
(Mar 03, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600310.2
First in ClinVar: Apr 27, 2017 Last updated: Jan 03, 2022 |
|
|
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: SCV000325519.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
Pathogenic
(Mar 03, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000076049.9
First in ClinVar: Jul 03, 2013 Last updated: Feb 28, 2024 |
Comment:
ClinVar contains an entry for this variant (Variation ID: 54744). This sequence change creates a premature translational stop signal (p.Glu1000Glyfs*24) in the BRCA1 gene. It … (more)
ClinVar contains an entry for this variant (Variation ID: 54744). This sequence change creates a premature translational stop signal (p.Glu1000Glyfs*24) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with a personal or family history of breast and/or ovarian cancer (PMID: 14732925, 21324516). This variant is also known as 3118delA. For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(May 29, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline,
unknown
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144604.2
First in ClinVar: Apr 01, 2014 Last updated: Sep 27, 2014 |
Observation 1:
Number of individuals with the variant: 3
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: English
Geographic origin: Australia
|
|
Pathogenic
(May 01, 2012)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000115267.4
First in ClinVar: Feb 06, 2014 Last updated: Jun 24, 2016 |
|
|
Pathogenic
(Jan 31, 2014)
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587269.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
|
|
click to load more click to collapse |
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 |
---|---|---|---|---|
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. | Zhang S | Gynecologic oncology | 2011 | PMID: 21324516 |
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 |
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. | Spearman AD | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18824701 |
Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. | Risch HA | Journal of the National Cancer Institute | 2006 | PMID: 17148771 |
Germ-line mutations in BRCA1 or BRCA2 in the normal breast are associated with altered expression of estrogen-responsive proteins and the predominance of progesterone receptor A. | Mote PA | Genes, chromosomes & cancer | 2004 | PMID: 14732925 |
Text-mined citations for rs80357991 ...
HelpRecord last updated May 01, 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.