Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3205del (p.Gln1069fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Oct 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3205del (p.Gln1069fs)
Variation ID: 266342 Accession: VCV000266342.12
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43092326 (GRCh38) [ NCBI UCSC ] 17: 41244343 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 22, 2016 May 1, 2024 Oct 18, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3205del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1069fs frameshift NM_001407571.1:c.2992del NP_001394500.1:p.Gln998fs frameshift NM_001407581.1:c.3205del NP_001394510.1:p.Gln1069fs frameshift NM_001407582.1:c.3205del NP_001394511.1:p.Gln1069fs frameshift NM_001407583.1:c.3205del NP_001394512.1:p.Gln1069fs frameshift NM_001407585.1:c.3205del NP_001394514.1:p.Gln1069fs frameshift NM_001407587.1:c.3202del NP_001394516.1:p.Gln1068fs frameshift NM_001407590.1:c.3202del NP_001394519.1:p.Gln1068fs frameshift NM_001407591.1:c.3202del NP_001394520.1:p.Gln1068fs frameshift NM_001407593.1:c.3205del NP_001394522.1:p.Gln1069fs frameshift NM_001407594.1:c.3205del NP_001394523.1:p.Gln1069fs frameshift NM_001407596.1:c.3205del NP_001394525.1:p.Gln1069fs frameshift NM_001407597.1:c.3205del NP_001394526.1:p.Gln1069fs frameshift NM_001407598.1:c.3205del NP_001394527.1:p.Gln1069fs frameshift NM_001407602.1:c.3205del NP_001394531.1:p.Gln1069fs frameshift NM_001407603.1:c.3205del NP_001394532.1:p.Gln1069fs frameshift NM_001407605.1:c.3205del NP_001394534.1:p.Gln1069fs frameshift NM_001407610.1:c.3202del NP_001394539.1:p.Gln1068fs frameshift NM_001407611.1:c.3202del NP_001394540.1:p.Gln1068fs frameshift NM_001407612.1:c.3202del NP_001394541.1:p.Gln1068fs frameshift NM_001407613.1:c.3202del NP_001394542.1:p.Gln1068fs frameshift NM_001407614.1:c.3202del NP_001394543.1:p.Gln1068fs frameshift NM_001407615.1:c.3202del NP_001394544.1:p.Gln1068fs frameshift NM_001407616.1:c.3205del NP_001394545.1:p.Gln1069fs frameshift NM_001407617.1:c.3205del NP_001394546.1:p.Gln1069fs frameshift NM_001407618.1:c.3205del NP_001394547.1:p.Gln1069fs frameshift NM_001407619.1:c.3205del NP_001394548.1:p.Gln1069fs frameshift NM_001407620.1:c.3205del NP_001394549.1:p.Gln1069fs frameshift NM_001407621.1:c.3205del NP_001394550.1:p.Gln1069fs frameshift NM_001407622.1:c.3205del NP_001394551.1:p.Gln1069fs frameshift NM_001407623.1:c.3205del NP_001394552.1:p.Gln1069fs frameshift NM_001407624.1:c.3205del NP_001394553.1:p.Gln1069fs frameshift NM_001407625.1:c.3205del NP_001394554.1:p.Gln1069fs frameshift NM_001407626.1:c.3205del NP_001394555.1:p.Gln1069fs frameshift NM_001407627.1:c.3202del NP_001394556.1:p.Gln1068fs frameshift NM_001407628.1:c.3202del NP_001394557.1:p.Gln1068fs frameshift NM_001407629.1:c.3202del NP_001394558.1:p.Gln1068fs frameshift NM_001407630.1:c.3202del NP_001394559.1:p.Gln1068fs frameshift NM_001407631.1:c.3202del NP_001394560.1:p.Gln1068fs frameshift NM_001407632.1:c.3202del NP_001394561.1:p.Gln1068fs frameshift NM_001407633.1:c.3202del NP_001394562.1:p.Gln1068fs frameshift NM_001407634.1:c.3202del NP_001394563.1:p.Gln1068fs frameshift NM_001407635.1:c.3202del NP_001394564.1:p.Gln1068fs frameshift NM_001407636.1:c.3202del NP_001394565.1:p.Gln1068fs frameshift NM_001407637.1:c.3202del NP_001394566.1:p.Gln1068fs frameshift NM_001407638.1:c.3202del NP_001394567.1:p.Gln1068fs frameshift NM_001407639.1:c.3205del NP_001394568.1:p.Gln1069fs frameshift NM_001407640.1:c.3205del NP_001394569.1:p.Gln1069fs frameshift NM_001407641.1:c.3205del NP_001394570.1:p.Gln1069fs frameshift NM_001407642.1:c.3205del NP_001394571.1:p.Gln1069fs frameshift NM_001407644.1:c.3202del NP_001394573.1:p.Gln1068fs frameshift NM_001407645.1:c.3202del NP_001394574.1:p.Gln1068fs frameshift NM_001407646.1:c.3196del NP_001394575.1:p.Gln1066fs frameshift NM_001407647.1:c.3196del NP_001394576.1:p.Gln1066fs frameshift NM_001407648.1:c.3082del NP_001394577.1:p.Gln1028fs frameshift NM_001407649.1:c.3079del NP_001394578.1:p.Gln1027fs frameshift NM_001407652.1:c.3205del NP_001394581.1:p.Gln1069fs frameshift NM_001407653.1:c.3127del NP_001394582.1:p.Gln1043fs frameshift NM_001407654.1:c.3127del NP_001394583.1:p.Gln1043fs frameshift NM_001407655.1:c.3127del NP_001394584.1:p.Gln1043fs frameshift NM_001407656.1:c.3127del NP_001394585.1:p.Gln1043fs frameshift NM_001407657.1:c.3127del NP_001394586.1:p.Gln1043fs frameshift NM_001407658.1:c.3127del NP_001394587.1:p.Gln1043fs frameshift NM_001407659.1:c.3124del NP_001394588.1:p.Gln1042fs frameshift NM_001407660.1:c.3124del NP_001394589.1:p.Gln1042fs frameshift NM_001407661.1:c.3124del NP_001394590.1:p.Gln1042fs frameshift NM_001407662.1:c.3124del NP_001394591.1:p.Gln1042fs frameshift NM_001407663.1:c.3127del NP_001394592.1:p.Gln1043fs frameshift NM_001407664.1:c.3082del NP_001394593.1:p.Gln1028fs frameshift NM_001407665.1:c.3082del NP_001394594.1:p.Gln1028fs frameshift NM_001407666.1:c.3082del NP_001394595.1:p.Gln1028fs frameshift NM_001407667.1:c.3082del NP_001394596.1:p.Gln1028fs frameshift NM_001407668.1:c.3082del NP_001394597.1:p.Gln1028fs frameshift NM_001407669.1:c.3082del NP_001394598.1:p.Gln1028fs frameshift NM_001407670.1:c.3079del NP_001394599.1:p.Gln1027fs frameshift NM_001407671.1:c.3079del NP_001394600.1:p.Gln1027fs frameshift NM_001407672.1:c.3079del NP_001394601.1:p.Gln1027fs frameshift NM_001407673.1:c.3079del NP_001394602.1:p.Gln1027fs frameshift NM_001407674.1:c.3082del NP_001394603.1:p.Gln1028fs frameshift NM_001407675.1:c.3082del NP_001394604.1:p.Gln1028fs frameshift NM_001407676.1:c.3082del NP_001394605.1:p.Gln1028fs frameshift NM_001407677.1:c.3082del NP_001394606.1:p.Gln1028fs frameshift NM_001407678.1:c.3082del NP_001394607.1:p.Gln1028fs frameshift NM_001407679.1:c.3082del NP_001394608.1:p.Gln1028fs frameshift NM_001407680.1:c.3082del NP_001394609.1:p.Gln1028fs frameshift NM_001407681.1:c.3082del NP_001394610.1:p.Gln1028fs frameshift NM_001407682.1:c.3082del NP_001394611.1:p.Gln1028fs frameshift NM_001407683.1:c.3082del NP_001394612.1:p.Gln1028fs frameshift NM_001407684.1:c.3205del NP_001394613.1:p.Gln1069fs frameshift NM_001407685.1:c.3079del NP_001394614.1:p.Gln1027fs frameshift NM_001407686.1:c.3079del NP_001394615.1:p.Gln1027fs frameshift NM_001407687.1:c.3079del NP_001394616.1:p.Gln1027fs frameshift NM_001407688.1:c.3079del NP_001394617.1:p.Gln1027fs frameshift NM_001407689.1:c.3079del NP_001394618.1:p.Gln1027fs frameshift NM_001407690.1:c.3079del NP_001394619.1:p.Gln1027fs frameshift NM_001407691.1:c.3079del NP_001394620.1:p.Gln1027fs frameshift NM_001407692.1:c.3064del NP_001394621.1:p.Gln1022fs frameshift NM_001407694.1:c.3064del NP_001394623.1:p.Gln1022fs frameshift NM_001407695.1:c.3064del NP_001394624.1:p.Gln1022fs frameshift NM_001407696.1:c.3064del NP_001394625.1:p.Gln1022fs frameshift NM_001407697.1:c.3064del NP_001394626.1:p.Gln1022fs frameshift NM_001407698.1:c.3064del NP_001394627.1:p.Gln1022fs frameshift NM_001407724.1:c.3064del NP_001394653.1:p.Gln1022fs frameshift NM_001407725.1:c.3064del NP_001394654.1:p.Gln1022fs frameshift NM_001407726.1:c.3064del NP_001394655.1:p.Gln1022fs frameshift NM_001407727.1:c.3064del NP_001394656.1:p.Gln1022fs frameshift NM_001407728.1:c.3064del NP_001394657.1:p.Gln1022fs frameshift NM_001407729.1:c.3064del NP_001394658.1:p.Gln1022fs frameshift NM_001407730.1:c.3064del NP_001394659.1:p.Gln1022fs frameshift NM_001407731.1:c.3064del NP_001394660.1:p.Gln1022fs frameshift NM_001407732.1:c.3064del NP_001394661.1:p.Gln1022fs frameshift NM_001407733.1:c.3064del NP_001394662.1:p.Gln1022fs frameshift NM_001407734.1:c.3064del NP_001394663.1:p.Gln1022fs frameshift NM_001407735.1:c.3064del NP_001394664.1:p.Gln1022fs frameshift NM_001407736.1:c.3064del NP_001394665.1:p.Gln1022fs frameshift NM_001407737.1:c.3064del NP_001394666.1:p.Gln1022fs frameshift NM_001407738.1:c.3064del NP_001394667.1:p.Gln1022fs frameshift NM_001407739.1:c.3064del NP_001394668.1:p.Gln1022fs frameshift NM_001407740.1:c.3061del NP_001394669.1:p.Gln1021fs frameshift NM_001407741.1:c.3061del NP_001394670.1:p.Gln1021fs frameshift NM_001407742.1:c.3061del NP_001394671.1:p.Gln1021fs frameshift NM_001407743.1:c.3061del NP_001394672.1:p.Gln1021fs frameshift NM_001407744.1:c.3061del NP_001394673.1:p.Gln1021fs frameshift NM_001407745.1:c.3061del NP_001394674.1:p.Gln1021fs frameshift NM_001407746.1:c.3061del NP_001394675.1:p.Gln1021fs frameshift NM_001407747.1:c.3061del NP_001394676.1:p.Gln1021fs frameshift NM_001407748.1:c.3061del NP_001394677.1:p.Gln1021fs frameshift NM_001407749.1:c.3061del NP_001394678.1:p.Gln1021fs frameshift NM_001407750.1:c.3064del NP_001394679.1:p.Gln1022fs frameshift NM_001407751.1:c.3064del NP_001394680.1:p.Gln1022fs frameshift NM_001407752.1:c.3064del NP_001394681.1:p.Gln1022fs frameshift NM_001407838.1:c.3061del NP_001394767.1:p.Gln1021fs frameshift NM_001407839.1:c.3061del NP_001394768.1:p.Gln1021fs frameshift NM_001407841.1:c.3061del NP_001394770.1:p.Gln1021fs frameshift NM_001407842.1:c.3061del NP_001394771.1:p.Gln1021fs frameshift NM_001407843.1:c.3061del NP_001394772.1:p.Gln1021fs frameshift NM_001407844.1:c.3061del NP_001394773.1:p.Gln1021fs frameshift NM_001407845.1:c.3061del NP_001394774.1:p.Gln1021fs frameshift NM_001407846.1:c.3061del NP_001394775.1:p.Gln1021fs frameshift NM_001407847.1:c.3061del NP_001394776.1:p.Gln1021fs frameshift NM_001407848.1:c.3061del NP_001394777.1:p.Gln1021fs frameshift NM_001407849.1:c.3061del NP_001394778.1:p.Gln1021fs frameshift NM_001407850.1:c.3064del NP_001394779.1:p.Gln1022fs frameshift NM_001407851.1:c.3064del NP_001394780.1:p.Gln1022fs frameshift NM_001407852.1:c.3064del NP_001394781.1:p.Gln1022fs frameshift NM_001407853.1:c.2992del NP_001394782.1:p.Gln998fs frameshift NM_001407854.1:c.3205del NP_001394783.1:p.Gln1069fs frameshift NM_001407858.1:c.3205del NP_001394787.1:p.Gln1069fs frameshift NM_001407859.1:c.3205del NP_001394788.1:p.Gln1069fs frameshift NM_001407860.1:c.3202del NP_001394789.1:p.Gln1068fs frameshift NM_001407861.1:c.3202del NP_001394790.1:p.Gln1068fs frameshift NM_001407862.1:c.3004del NP_001394791.1:p.Gln1002fs frameshift NM_001407863.1:c.3082del NP_001394792.1:p.Gln1028fs frameshift NM_001407874.1:c.3001del NP_001394803.1:p.Gln1001fs frameshift NM_001407875.1:c.3001del NP_001394804.1:p.Gln1001fs frameshift NM_001407879.1:c.2995del NP_001394808.1:p.Gln999fs frameshift NM_001407881.1:c.2995del NP_001394810.1:p.Gln999fs frameshift NM_001407882.1:c.2995del NP_001394811.1:p.Gln999fs frameshift NM_001407884.1:c.2995del NP_001394813.1:p.Gln999fs frameshift NM_001407885.1:c.2995del NP_001394814.1:p.Gln999fs frameshift NM_001407886.1:c.2995del NP_001394815.1:p.Gln999fs frameshift NM_001407887.1:c.2995del NP_001394816.1:p.Gln999fs frameshift NM_001407889.1:c.2995del NP_001394818.1:p.Gln999fs frameshift NM_001407894.1:c.2992del NP_001394823.1:p.Gln998fs frameshift NM_001407895.1:c.2992del NP_001394824.1:p.Gln998fs frameshift NM_001407896.1:c.2992del NP_001394825.1:p.Gln998fs frameshift NM_001407897.1:c.2992del NP_001394826.1:p.Gln998fs frameshift NM_001407898.1:c.2992del NP_001394827.1:p.Gln998fs frameshift NM_001407899.1:c.2992del NP_001394828.1:p.Gln998fs frameshift NM_001407900.1:c.2995del NP_001394829.1:p.Gln999fs frameshift NM_001407902.1:c.2995del NP_001394831.1:p.Gln999fs frameshift NM_001407904.1:c.2995del NP_001394833.1:p.Gln999fs frameshift NM_001407906.1:c.2995del NP_001394835.1:p.Gln999fs frameshift NM_001407907.1:c.2995del NP_001394836.1:p.Gln999fs frameshift NM_001407908.1:c.2995del NP_001394837.1:p.Gln999fs frameshift NM_001407909.1:c.2995del NP_001394838.1:p.Gln999fs frameshift NM_001407910.1:c.2995del NP_001394839.1:p.Gln999fs frameshift NM_001407915.1:c.2992del NP_001394844.1:p.Gln998fs frameshift NM_001407916.1:c.2992del NP_001394845.1:p.Gln998fs frameshift NM_001407917.1:c.2992del NP_001394846.1:p.Gln998fs frameshift NM_001407918.1:c.2992del NP_001394847.1:p.Gln998fs frameshift NM_001407919.1:c.3082del NP_001394848.1:p.Gln1028fs frameshift NM_001407920.1:c.2941del NP_001394849.1:p.Gln981fs frameshift NM_001407921.1:c.2941del NP_001394850.1:p.Gln981fs frameshift NM_001407922.1:c.2941del NP_001394851.1:p.Gln981fs frameshift NM_001407923.1:c.2941del NP_001394852.1:p.Gln981fs frameshift NM_001407924.1:c.2941del NP_001394853.1:p.Gln981fs frameshift NM_001407925.1:c.2941del NP_001394854.1:p.Gln981fs frameshift NM_001407926.1:c.2941del NP_001394855.1:p.Gln981fs frameshift NM_001407927.1:c.2941del NP_001394856.1:p.Gln981fs frameshift NM_001407928.1:c.2941del NP_001394857.1:p.Gln981fs frameshift NM_001407929.1:c.2941del NP_001394858.1:p.Gln981fs frameshift NM_001407930.1:c.2938del NP_001394859.1:p.Gln980fs frameshift NM_001407931.1:c.2938del NP_001394860.1:p.Gln980fs frameshift NM_001407932.1:c.2938del NP_001394861.1:p.Gln980fs frameshift NM_001407933.1:c.2941del NP_001394862.1:p.Gln981fs frameshift NM_001407934.1:c.2938del NP_001394863.1:p.Gln980fs frameshift NM_001407935.1:c.2941del NP_001394864.1:p.Gln981fs frameshift NM_001407936.1:c.2938del NP_001394865.1:p.Gln980fs frameshift NM_001407937.1:c.3082del NP_001394866.1:p.Gln1028fs frameshift NM_001407938.1:c.3082del NP_001394867.1:p.Gln1028fs frameshift NM_001407939.1:c.3082del NP_001394868.1:p.Gln1028fs frameshift NM_001407940.1:c.3079del NP_001394869.1:p.Gln1027fs frameshift NM_001407941.1:c.3079del NP_001394870.1:p.Gln1027fs frameshift NM_001407942.1:c.3064del NP_001394871.1:p.Gln1022fs frameshift NM_001407943.1:c.3061del NP_001394872.1:p.Gln1021fs frameshift NM_001407944.1:c.3064del NP_001394873.1:p.Gln1022fs frameshift NM_001407945.1:c.3064del NP_001394874.1:p.Gln1022fs frameshift NM_001407946.1:c.2872del NP_001394875.1:p.Gln958fs frameshift NM_001407947.1:c.2872del NP_001394876.1:p.Gln958fs frameshift NM_001407948.1:c.2872del NP_001394877.1:p.Gln958fs frameshift NM_001407949.1:c.2872del NP_001394878.1:p.Gln958fs frameshift NM_001407950.1:c.2872del NP_001394879.1:p.Gln958fs frameshift NM_001407951.1:c.2872del NP_001394880.1:p.Gln958fs frameshift NM_001407952.1:c.2872del NP_001394881.1:p.Gln958fs frameshift NM_001407953.1:c.2872del NP_001394882.1:p.Gln958fs frameshift NM_001407954.1:c.2869del NP_001394883.1:p.Gln957fs frameshift NM_001407955.1:c.2869del NP_001394884.1:p.Gln957fs frameshift NM_001407956.1:c.2869del NP_001394885.1:p.Gln957fs frameshift NM_001407957.1:c.2872del NP_001394886.1:p.Gln958fs frameshift NM_001407958.1:c.2869del NP_001394887.1:p.Gln957fs frameshift NM_001407959.1:c.2824del NP_001394888.1:p.Gln942fs frameshift NM_001407960.1:c.2824del NP_001394889.1:p.Gln942fs frameshift NM_001407962.1:c.2821del NP_001394891.1:p.Gln941fs frameshift NM_001407963.1:c.2824del NP_001394892.1:p.Gln942fs frameshift NM_001407964.1:c.3061del NP_001394893.1:p.Gln1021fs frameshift NM_001407965.1:c.2701del NP_001394894.1:p.Gln901fs frameshift NM_001407966.1:c.2317del NP_001394895.1:p.Gln773fs frameshift NM_001407967.1:c.2317del NP_001394896.1:p.Gln773fs frameshift NM_001407968.1:c.788-187del intron variant NM_001407969.1:c.788-187del intron variant NM_001407970.1:c.788-1294del intron variant NM_001407971.1:c.788-1294del intron variant NM_001407972.1:c.785-1294del intron variant NM_001407973.1:c.788-1294del intron variant NM_001407974.1:c.788-1294del intron variant NM_001407975.1:c.788-1294del intron variant NM_001407976.1:c.788-1294del intron variant NM_001407977.1:c.788-1294del intron variant NM_001407978.1:c.788-1294del intron variant NM_001407979.1:c.788-1294del intron variant NM_001407980.1:c.788-1294del intron variant NM_001407981.1:c.788-1294del intron variant NM_001407982.1:c.788-1294del intron variant NM_001407983.1:c.788-1294del intron variant NM_001407984.1:c.785-1294del intron variant NM_001407985.1:c.785-1294del intron variant NM_001407986.1:c.785-1294del intron variant NM_001407990.1:c.788-1294del intron variant NM_001407991.1:c.785-1294del intron variant NM_001407992.1:c.785-1294del intron variant NM_001407993.1:c.788-1294del intron variant NM_001408392.1:c.785-1294del intron variant NM_001408396.1:c.785-1294del intron variant NM_001408397.1:c.785-1294del intron variant NM_001408398.1:c.785-1294del intron variant NM_001408399.1:c.785-1294del intron variant NM_001408400.1:c.785-1294del intron variant NM_001408401.1:c.785-1294del intron variant NM_001408402.1:c.785-1294del intron variant NM_001408403.1:c.788-1294del intron variant NM_001408404.1:c.788-1294del intron variant NM_001408406.1:c.791-1303del intron variant NM_001408407.1:c.785-1294del intron variant NM_001408408.1:c.779-1294del intron variant NM_001408409.1:c.710-1294del intron variant NM_001408410.1:c.647-1294del intron variant NM_001408411.1:c.710-1294del intron variant NM_001408412.1:c.710-1294del intron variant NM_001408413.1:c.707-1294del intron variant NM_001408414.1:c.710-1294del intron variant NM_001408415.1:c.710-1294del intron variant NM_001408416.1:c.707-1294del intron variant NM_001408418.1:c.671-1294del intron variant NM_001408419.1:c.671-1294del intron variant NM_001408420.1:c.671-1294del intron variant NM_001408421.1:c.668-1294del intron variant NM_001408422.1:c.671-1294del intron variant NM_001408423.1:c.671-1294del intron variant NM_001408424.1:c.668-1294del intron variant NM_001408425.1:c.665-1294del intron variant NM_001408426.1:c.665-1294del intron variant NM_001408427.1:c.665-1294del intron variant NM_001408428.1:c.665-1294del intron variant NM_001408429.1:c.665-1294del intron variant NM_001408430.1:c.665-1294del intron variant NM_001408431.1:c.668-1294del intron variant NM_001408432.1:c.662-1294del intron variant NM_001408433.1:c.662-1294del intron variant NM_001408434.1:c.662-1294del intron variant NM_001408435.1:c.662-1294del intron variant NM_001408436.1:c.665-1294del intron variant NM_001408437.1:c.665-1294del intron variant NM_001408438.1:c.665-1294del intron variant NM_001408439.1:c.665-1294del intron variant NM_001408440.1:c.665-1294del intron variant NM_001408441.1:c.665-1294del intron variant NM_001408442.1:c.665-1294del intron variant NM_001408443.1:c.665-1294del intron variant NM_001408444.1:c.665-1294del intron variant NM_001408445.1:c.662-1294del intron variant NM_001408446.1:c.662-1294del intron variant NM_001408447.1:c.662-1294del intron variant NM_001408448.1:c.662-1294del intron variant NM_001408450.1:c.662-1294del intron variant NM_001408451.1:c.653-1294del intron variant NM_001408452.1:c.647-1294del intron variant NM_001408453.1:c.647-1294del intron variant NM_001408454.1:c.647-1294del intron variant NM_001408455.1:c.647-1294del intron variant NM_001408456.1:c.647-1294del intron variant NM_001408457.1:c.647-1294del intron variant NM_001408458.1:c.647-1294del intron variant NM_001408459.1:c.647-1294del intron variant NM_001408460.1:c.647-1294del intron variant NM_001408461.1:c.647-1294del intron variant NM_001408462.1:c.644-1294del intron variant NM_001408463.1:c.644-1294del intron variant NM_001408464.1:c.644-1294del intron variant NM_001408465.1:c.644-1294del intron variant NM_001408466.1:c.647-1294del intron variant NM_001408467.1:c.647-1294del intron variant NM_001408468.1:c.644-1294del intron variant NM_001408469.1:c.647-1294del intron variant NM_001408470.1:c.644-1294del intron variant NM_001408472.1:c.788-1294del intron variant NM_001408473.1:c.785-1294del intron variant NM_001408474.1:c.587-1294del intron variant NM_001408475.1:c.584-1294del intron variant NM_001408476.1:c.587-1294del intron variant NM_001408478.1:c.578-1294del intron variant NM_001408479.1:c.578-1294del intron variant NM_001408480.1:c.578-1294del intron variant NM_001408481.1:c.578-1294del intron variant NM_001408482.1:c.578-1294del intron variant NM_001408483.1:c.578-1294del intron variant NM_001408484.1:c.578-1294del intron variant NM_001408485.1:c.578-1294del intron variant NM_001408489.1:c.578-1294del intron variant NM_001408490.1:c.575-1294del intron variant NM_001408491.1:c.575-1294del intron variant NM_001408492.1:c.578-1294del intron variant NM_001408493.1:c.575-1294del intron variant NM_001408494.1:c.548-1294del intron variant NM_001408495.1:c.545-1294del intron variant NM_001408496.1:c.524-1294del intron variant NM_001408497.1:c.524-1294del intron variant NM_001408498.1:c.524-1294del intron variant NM_001408499.1:c.524-1294del intron variant NM_001408500.1:c.524-1294del intron variant NM_001408501.1:c.524-1294del intron variant NM_001408502.1:c.455-1294del intron variant NM_001408503.1:c.521-1294del intron variant NM_001408504.1:c.521-1294del intron variant NM_001408505.1:c.521-1294del intron variant NM_001408506.1:c.461-1294del intron variant NM_001408507.1:c.461-1294del intron variant NM_001408508.1:c.452-1294del intron variant NM_001408509.1:c.452-1294del intron variant NM_001408510.1:c.407-1294del intron variant NM_001408511.1:c.404-1294del intron variant NM_001408512.1:c.284-1294del intron variant NM_001408513.1:c.578-1294del intron variant NM_001408514.1:c.578-1294del intron variant NM_007297.4:c.3064del NP_009228.2:p.Gln1022fs frameshift NM_007298.4:c.788-1294del intron variant NM_007299.4:c.788-1294del intron variant NM_007300.4:c.3205del NP_009231.2:p.Gln1069fs frameshift NR_027676.1:n.3341delC NC_000017.11:g.43092326del NC_000017.10:g.41244343del NG_005905.2:g.125658del NG_087068.1:g.1308del LRG_292:g.125658del LRG_292t1:c.3205del LRG_292p1:p.Gln1069Lysfs - Protein change
- Q1022fs, Q1069fs, Q1002fs, Q1043fs, Q957fs, Q980fs, Q1001fs, Q1066fs, Q941fs, Q998fs, Q1027fs, Q1028fs, Q1068fs, Q773fs, Q901fs, Q999fs, Q1021fs, Q1042fs, Q942fs, Q958fs, Q981fs
- Other names
-
3324delC
- Canonical SPDI
- NC_000017.11:43092325:G:
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257601.6 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Aug 6, 2021 | RCV000461689.9 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Apr 29, 2022 | RCV002321940.2 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Oct 18, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323574.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325575.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Aug 06, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000549230.5
First in ClinVar: Apr 17, 2017 Last updated: Feb 20, 2024 |
Comment:
This variant has been reported in an individual with ovarian cancer (PMID: 24728189). ClinVar contains an entry for this variant (Variation ID: 266342). For these … (more)
This variant has been reported in an individual with ovarian cancer (PMID: 24728189). ClinVar contains an entry for this variant (Variation ID: 266342). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1069Lysfs*4) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. (less)
|
|
|
Pathogenic
(Apr 29, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002609206.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.3205delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3205, causing … (more)
The c.3205delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3205, causing a translational frameshift with a predicted alternate stop codon (p.Q1069Kfs*4). In one case control study, this alteration was detected in 1/2222 individuals with invasive epithelial ovarian cancer and 0/1528 matched controls. (Song H et al. Hum Mol Genet, 2014 Sep;23:4703-9). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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:
This variant has been reported in an individual with ovarian cancer (PMID: 24728189). ClinVar contains an entry for this variant (Variation ID: 266342). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1069Lysfs*4) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Comment:
The c.3205delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3205, causing a translational frameshift with a predicted alternate stop codon (p.Q1069Kfs*4). In one case control study, this alteration was detected in 1/2222 individuals with invasive epithelial ovarian cancer and 0/1528 matched controls. (Song H et al. Hum Mol Genet, 2014 Sep;23:4703-9). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
This variant has been reported in an individual with ovarian cancer (PMID: 24728189). ClinVar contains an entry for this variant (Variation ID: 266342). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1069Lysfs*4) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Comment:
The c.3205delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3205, causing a translational frameshift with a predicted alternate stop codon (p.Q1069Kfs*4). In one case control study, this alteration was detected in 1/2222 individuals with invasive epithelial ovarian cancer and 0/1528 matched controls. (Song H et al. Hum Mol Genet, 2014 Sep;23:4703-9). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 |
|---|---|---|---|---|
| The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. | Song H | Human molecular genetics | 2014 | PMID: 24728189 |
| 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 rs886040103 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.