ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2750del (p.Ile917fs)
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.2750del (p.Ile917fs)
Variation ID: 266298 Accession: VCV000266298.6
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092781 (GRCh38) [ NCBI UCSC ] 17: 41244798 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2750del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile917fs frameshift NM_001407571.1:c.2537del NP_001394500.1:p.Ile846fs frameshift NM_001407581.1:c.2750del NP_001394510.1:p.Ile917fs frameshift NM_001407582.1:c.2750del NP_001394511.1:p.Ile917fs frameshift NM_001407583.1:c.2750del NP_001394512.1:p.Ile917fs frameshift NM_001407585.1:c.2750del NP_001394514.1:p.Ile917fs frameshift NM_001407587.1:c.2747del NP_001394516.1:p.Ile916fs frameshift NM_001407590.1:c.2747del NP_001394519.1:p.Ile916fs frameshift NM_001407591.1:c.2747del NP_001394520.1:p.Ile916fs frameshift NM_001407593.1:c.2750del NP_001394522.1:p.Ile917fs frameshift NM_001407594.1:c.2750del NP_001394523.1:p.Ile917fs frameshift NM_001407596.1:c.2750del NP_001394525.1:p.Ile917fs frameshift NM_001407597.1:c.2750del NP_001394526.1:p.Ile917fs frameshift NM_001407598.1:c.2750del NP_001394527.1:p.Ile917fs frameshift NM_001407602.1:c.2750del NP_001394531.1:p.Ile917fs frameshift NM_001407603.1:c.2750del NP_001394532.1:p.Ile917fs frameshift NM_001407605.1:c.2750del NP_001394534.1:p.Ile917fs frameshift NM_001407610.1:c.2747del NP_001394539.1:p.Ile916fs frameshift NM_001407611.1:c.2747del NP_001394540.1:p.Ile916fs frameshift NM_001407612.1:c.2747del NP_001394541.1:p.Ile916fs frameshift NM_001407613.1:c.2747del NP_001394542.1:p.Ile916fs frameshift NM_001407614.1:c.2747del NP_001394543.1:p.Ile916fs frameshift NM_001407615.1:c.2747del NP_001394544.1:p.Ile916fs frameshift NM_001407616.1:c.2750del NP_001394545.1:p.Ile917fs frameshift NM_001407617.1:c.2750del NP_001394546.1:p.Ile917fs frameshift NM_001407618.1:c.2750del NP_001394547.1:p.Ile917fs frameshift NM_001407619.1:c.2750del NP_001394548.1:p.Ile917fs frameshift NM_001407620.1:c.2750del NP_001394549.1:p.Ile917fs frameshift NM_001407621.1:c.2750del NP_001394550.1:p.Ile917fs frameshift NM_001407622.1:c.2750del NP_001394551.1:p.Ile917fs frameshift NM_001407623.1:c.2750del NP_001394552.1:p.Ile917fs frameshift NM_001407624.1:c.2750del NP_001394553.1:p.Ile917fs frameshift NM_001407625.1:c.2750del NP_001394554.1:p.Ile917fs frameshift NM_001407626.1:c.2750del NP_001394555.1:p.Ile917fs frameshift NM_001407627.1:c.2747del NP_001394556.1:p.Ile916fs frameshift NM_001407628.1:c.2747del NP_001394557.1:p.Ile916fs frameshift NM_001407629.1:c.2747del NP_001394558.1:p.Ile916fs frameshift NM_001407630.1:c.2747del NP_001394559.1:p.Ile916fs frameshift NM_001407631.1:c.2747del NP_001394560.1:p.Ile916fs frameshift NM_001407632.1:c.2747del NP_001394561.1:p.Ile916fs frameshift NM_001407633.1:c.2747del NP_001394562.1:p.Ile916fs frameshift NM_001407634.1:c.2747del NP_001394563.1:p.Ile916fs frameshift NM_001407635.1:c.2747del NP_001394564.1:p.Ile916fs frameshift NM_001407636.1:c.2747del NP_001394565.1:p.Ile916fs frameshift NM_001407637.1:c.2747del NP_001394566.1:p.Ile916fs frameshift NM_001407638.1:c.2747del NP_001394567.1:p.Ile916fs frameshift NM_001407639.1:c.2750del NP_001394568.1:p.Ile917fs frameshift NM_001407640.1:c.2750del NP_001394569.1:p.Ile917fs frameshift NM_001407641.1:c.2750del NP_001394570.1:p.Ile917fs frameshift NM_001407642.1:c.2750del NP_001394571.1:p.Ile917fs frameshift NM_001407644.1:c.2747del NP_001394573.1:p.Ile916fs frameshift NM_001407645.1:c.2747del NP_001394574.1:p.Ile916fs frameshift NM_001407646.1:c.2741del NP_001394575.1:p.Ile914fs frameshift NM_001407647.1:c.2741del NP_001394576.1:p.Ile914fs frameshift NM_001407648.1:c.2627del NP_001394577.1:p.Ile876fs frameshift NM_001407649.1:c.2624del NP_001394578.1:p.Ile875fs frameshift NM_001407652.1:c.2750del NP_001394581.1:p.Ile917fs frameshift NM_001407653.1:c.2672del NP_001394582.1:p.Ile891fs frameshift NM_001407654.1:c.2672del NP_001394583.1:p.Ile891fs frameshift NM_001407655.1:c.2672del NP_001394584.1:p.Ile891fs frameshift NM_001407656.1:c.2672del NP_001394585.1:p.Ile891fs frameshift NM_001407657.1:c.2672del NP_001394586.1:p.Ile891fs frameshift NM_001407658.1:c.2672del NP_001394587.1:p.Ile891fs frameshift NM_001407659.1:c.2669del NP_001394588.1:p.Ile890fs frameshift NM_001407660.1:c.2669del NP_001394589.1:p.Ile890fs frameshift NM_001407661.1:c.2669del NP_001394590.1:p.Ile890fs frameshift NM_001407662.1:c.2669del NP_001394591.1:p.Ile890fs frameshift NM_001407663.1:c.2672del NP_001394592.1:p.Ile891fs frameshift NM_001407664.1:c.2627del NP_001394593.1:p.Ile876fs frameshift NM_001407665.1:c.2627del NP_001394594.1:p.Ile876fs frameshift NM_001407666.1:c.2627del NP_001394595.1:p.Ile876fs frameshift NM_001407667.1:c.2627del NP_001394596.1:p.Ile876fs frameshift NM_001407668.1:c.2627del NP_001394597.1:p.Ile876fs frameshift NM_001407669.1:c.2627del NP_001394598.1:p.Ile876fs frameshift NM_001407670.1:c.2624del NP_001394599.1:p.Ile875fs frameshift NM_001407671.1:c.2624del NP_001394600.1:p.Ile875fs frameshift NM_001407672.1:c.2624del NP_001394601.1:p.Ile875fs frameshift NM_001407673.1:c.2624del NP_001394602.1:p.Ile875fs frameshift NM_001407674.1:c.2627del NP_001394603.1:p.Ile876fs frameshift NM_001407675.1:c.2627del NP_001394604.1:p.Ile876fs frameshift NM_001407676.1:c.2627del NP_001394605.1:p.Ile876fs frameshift NM_001407677.1:c.2627del NP_001394606.1:p.Ile876fs frameshift NM_001407678.1:c.2627del NP_001394607.1:p.Ile876fs frameshift NM_001407679.1:c.2627del NP_001394608.1:p.Ile876fs frameshift NM_001407680.1:c.2627del NP_001394609.1:p.Ile876fs frameshift NM_001407681.1:c.2627del NP_001394610.1:p.Ile876fs frameshift NM_001407682.1:c.2627del NP_001394611.1:p.Ile876fs frameshift NM_001407683.1:c.2627del NP_001394612.1:p.Ile876fs frameshift NM_001407684.1:c.2750del NP_001394613.1:p.Ile917fs frameshift NM_001407685.1:c.2624del NP_001394614.1:p.Ile875fs frameshift NM_001407686.1:c.2624del NP_001394615.1:p.Ile875fs frameshift NM_001407687.1:c.2624del NP_001394616.1:p.Ile875fs frameshift NM_001407688.1:c.2624del NP_001394617.1:p.Ile875fs frameshift NM_001407689.1:c.2624del NP_001394618.1:p.Ile875fs frameshift NM_001407690.1:c.2624del NP_001394619.1:p.Ile875fs frameshift NM_001407691.1:c.2624del NP_001394620.1:p.Ile875fs frameshift NM_001407692.1:c.2609del NP_001394621.1:p.Ile870fs frameshift NM_001407694.1:c.2609del NP_001394623.1:p.Ile870fs frameshift NM_001407695.1:c.2609del NP_001394624.1:p.Ile870fs frameshift NM_001407696.1:c.2609del NP_001394625.1:p.Ile870fs frameshift NM_001407697.1:c.2609del NP_001394626.1:p.Ile870fs frameshift NM_001407698.1:c.2609del NP_001394627.1:p.Ile870fs frameshift NM_001407724.1:c.2609del NP_001394653.1:p.Ile870fs frameshift NM_001407725.1:c.2609del NP_001394654.1:p.Ile870fs frameshift NM_001407726.1:c.2609del NP_001394655.1:p.Ile870fs frameshift NM_001407727.1:c.2609del NP_001394656.1:p.Ile870fs frameshift NM_001407728.1:c.2609del NP_001394657.1:p.Ile870fs frameshift NM_001407729.1:c.2609del NP_001394658.1:p.Ile870fs frameshift NM_001407730.1:c.2609del NP_001394659.1:p.Ile870fs frameshift NM_001407731.1:c.2609del NP_001394660.1:p.Ile870fs frameshift NM_001407732.1:c.2609del NP_001394661.1:p.Ile870fs frameshift NM_001407733.1:c.2609del NP_001394662.1:p.Ile870fs frameshift NM_001407734.1:c.2609del NP_001394663.1:p.Ile870fs frameshift NM_001407735.1:c.2609del NP_001394664.1:p.Ile870fs frameshift NM_001407736.1:c.2609del NP_001394665.1:p.Ile870fs frameshift NM_001407737.1:c.2609del NP_001394666.1:p.Ile870fs frameshift NM_001407738.1:c.2609del NP_001394667.1:p.Ile870fs frameshift NM_001407739.1:c.2609del NP_001394668.1:p.Ile870fs frameshift NM_001407740.1:c.2606del NP_001394669.1:p.Ile869fs frameshift NM_001407741.1:c.2606del NP_001394670.1:p.Ile869fs frameshift NM_001407742.1:c.2606del NP_001394671.1:p.Ile869fs frameshift NM_001407743.1:c.2606del NP_001394672.1:p.Ile869fs frameshift NM_001407744.1:c.2606del NP_001394673.1:p.Ile869fs frameshift NM_001407745.1:c.2606del NP_001394674.1:p.Ile869fs frameshift NM_001407746.1:c.2606del NP_001394675.1:p.Ile869fs frameshift NM_001407747.1:c.2606del NP_001394676.1:p.Ile869fs frameshift NM_001407748.1:c.2606del NP_001394677.1:p.Ile869fs frameshift NM_001407749.1:c.2606del NP_001394678.1:p.Ile869fs frameshift NM_001407750.1:c.2609del NP_001394679.1:p.Ile870fs frameshift NM_001407751.1:c.2609del NP_001394680.1:p.Ile870fs frameshift NM_001407752.1:c.2609del NP_001394681.1:p.Ile870fs frameshift NM_001407838.1:c.2606del NP_001394767.1:p.Ile869fs frameshift NM_001407839.1:c.2606del NP_001394768.1:p.Ile869fs frameshift NM_001407841.1:c.2606del NP_001394770.1:p.Ile869fs frameshift NM_001407842.1:c.2606del NP_001394771.1:p.Ile869fs frameshift NM_001407843.1:c.2606del NP_001394772.1:p.Ile869fs frameshift NM_001407844.1:c.2606del NP_001394773.1:p.Ile869fs frameshift NM_001407845.1:c.2606del NP_001394774.1:p.Ile869fs frameshift NM_001407846.1:c.2606del NP_001394775.1:p.Ile869fs frameshift NM_001407847.1:c.2606del NP_001394776.1:p.Ile869fs frameshift NM_001407848.1:c.2606del NP_001394777.1:p.Ile869fs frameshift NM_001407849.1:c.2606del NP_001394778.1:p.Ile869fs frameshift NM_001407850.1:c.2609del NP_001394779.1:p.Ile870fs frameshift NM_001407851.1:c.2609del NP_001394780.1:p.Ile870fs frameshift NM_001407852.1:c.2609del NP_001394781.1:p.Ile870fs frameshift NM_001407853.1:c.2537del NP_001394782.1:p.Ile846fs frameshift NM_001407854.1:c.2750del NP_001394783.1:p.Ile917fs frameshift NM_001407858.1:c.2750del NP_001394787.1:p.Ile917fs frameshift NM_001407859.1:c.2750del NP_001394788.1:p.Ile917fs frameshift NM_001407860.1:c.2747del NP_001394789.1:p.Ile916fs frameshift NM_001407861.1:c.2747del NP_001394790.1:p.Ile916fs frameshift NM_001407862.1:c.2549del NP_001394791.1:p.Ile850fs frameshift NM_001407863.1:c.2627del NP_001394792.1:p.Ile876fs frameshift NM_001407874.1:c.2546del NP_001394803.1:p.Ile849fs frameshift NM_001407875.1:c.2546del NP_001394804.1:p.Ile849fs frameshift NM_001407879.1:c.2540del NP_001394808.1:p.Ile847fs frameshift NM_001407881.1:c.2540del NP_001394810.1:p.Ile847fs frameshift NM_001407882.1:c.2540del NP_001394811.1:p.Ile847fs frameshift NM_001407884.1:c.2540del NP_001394813.1:p.Ile847fs frameshift NM_001407885.1:c.2540del NP_001394814.1:p.Ile847fs frameshift NM_001407886.1:c.2540del NP_001394815.1:p.Ile847fs frameshift NM_001407887.1:c.2540del NP_001394816.1:p.Ile847fs frameshift NM_001407889.1:c.2540del NP_001394818.1:p.Ile847fs frameshift NM_001407894.1:c.2537del NP_001394823.1:p.Ile846fs frameshift NM_001407895.1:c.2537del NP_001394824.1:p.Ile846fs frameshift NM_001407896.1:c.2537del NP_001394825.1:p.Ile846fs frameshift NM_001407897.1:c.2537del NP_001394826.1:p.Ile846fs frameshift NM_001407898.1:c.2537del NP_001394827.1:p.Ile846fs frameshift NM_001407899.1:c.2537del NP_001394828.1:p.Ile846fs frameshift NM_001407900.1:c.2540del NP_001394829.1:p.Ile847fs frameshift NM_001407902.1:c.2540del NP_001394831.1:p.Ile847fs frameshift NM_001407904.1:c.2540del NP_001394833.1:p.Ile847fs frameshift NM_001407906.1:c.2540del NP_001394835.1:p.Ile847fs frameshift NM_001407907.1:c.2540del NP_001394836.1:p.Ile847fs frameshift NM_001407908.1:c.2540del NP_001394837.1:p.Ile847fs frameshift NM_001407909.1:c.2540del NP_001394838.1:p.Ile847fs frameshift NM_001407910.1:c.2540del NP_001394839.1:p.Ile847fs frameshift NM_001407915.1:c.2537del NP_001394844.1:p.Ile846fs frameshift NM_001407916.1:c.2537del NP_001394845.1:p.Ile846fs frameshift NM_001407917.1:c.2537del NP_001394846.1:p.Ile846fs frameshift NM_001407918.1:c.2537del NP_001394847.1:p.Ile846fs frameshift NM_001407919.1:c.2627del NP_001394848.1:p.Ile876fs frameshift NM_001407920.1:c.2486del NP_001394849.1:p.Ile829fs frameshift NM_001407921.1:c.2486del NP_001394850.1:p.Ile829fs frameshift NM_001407922.1:c.2486del NP_001394851.1:p.Ile829fs frameshift NM_001407923.1:c.2486del NP_001394852.1:p.Ile829fs frameshift NM_001407924.1:c.2486del NP_001394853.1:p.Ile829fs frameshift NM_001407925.1:c.2486del NP_001394854.1:p.Ile829fs frameshift NM_001407926.1:c.2486del NP_001394855.1:p.Ile829fs frameshift NM_001407927.1:c.2486del NP_001394856.1:p.Ile829fs frameshift NM_001407928.1:c.2486del NP_001394857.1:p.Ile829fs frameshift NM_001407929.1:c.2486del NP_001394858.1:p.Ile829fs frameshift NM_001407930.1:c.2483del NP_001394859.1:p.Ile828fs frameshift NM_001407931.1:c.2483del NP_001394860.1:p.Ile828fs frameshift NM_001407932.1:c.2483del NP_001394861.1:p.Ile828fs frameshift NM_001407933.1:c.2486del NP_001394862.1:p.Ile829fs frameshift NM_001407934.1:c.2483del NP_001394863.1:p.Ile828fs frameshift NM_001407935.1:c.2486del NP_001394864.1:p.Ile829fs frameshift NM_001407936.1:c.2483del NP_001394865.1:p.Ile828fs frameshift NM_001407937.1:c.2627del NP_001394866.1:p.Ile876fs frameshift NM_001407938.1:c.2627del NP_001394867.1:p.Ile876fs frameshift NM_001407939.1:c.2627del NP_001394868.1:p.Ile876fs frameshift NM_001407940.1:c.2624del NP_001394869.1:p.Ile875fs frameshift NM_001407941.1:c.2624del NP_001394870.1:p.Ile875fs frameshift NM_001407942.1:c.2609del NP_001394871.1:p.Ile870fs frameshift NM_001407943.1:c.2606del NP_001394872.1:p.Ile869fs frameshift NM_001407944.1:c.2609del NP_001394873.1:p.Ile870fs frameshift NM_001407945.1:c.2609del NP_001394874.1:p.Ile870fs frameshift NM_001407946.1:c.2417del NP_001394875.1:p.Ile806fs frameshift NM_001407947.1:c.2417del NP_001394876.1:p.Ile806fs frameshift NM_001407948.1:c.2417del NP_001394877.1:p.Ile806fs frameshift NM_001407949.1:c.2417del NP_001394878.1:p.Ile806fs frameshift NM_001407950.1:c.2417del NP_001394879.1:p.Ile806fs frameshift NM_001407951.1:c.2417del NP_001394880.1:p.Ile806fs frameshift NM_001407952.1:c.2417del NP_001394881.1:p.Ile806fs frameshift NM_001407953.1:c.2417del NP_001394882.1:p.Ile806fs frameshift NM_001407954.1:c.2414del NP_001394883.1:p.Ile805fs frameshift NM_001407955.1:c.2414del NP_001394884.1:p.Ile805fs frameshift NM_001407956.1:c.2414del NP_001394885.1:p.Ile805fs frameshift NM_001407957.1:c.2417del NP_001394886.1:p.Ile806fs frameshift NM_001407958.1:c.2414del NP_001394887.1:p.Ile805fs frameshift NM_001407959.1:c.2369del NP_001394888.1:p.Ile790fs frameshift NM_001407960.1:c.2369del NP_001394889.1:p.Ile790fs frameshift NM_001407962.1:c.2366del NP_001394891.1:p.Ile789fs frameshift NM_001407963.1:c.2369del NP_001394892.1:p.Ile790fs frameshift NM_001407964.1:c.2606del NP_001394893.1:p.Ile869fs frameshift NM_001407965.1:c.2246del NP_001394894.1:p.Ile749fs frameshift NM_001407966.1:c.1862del NP_001394895.1:p.Ile621fs frameshift NM_001407967.1:c.1862del NP_001394896.1:p.Ile621fs frameshift NM_001407968.1:c.788-642del intron variant NM_001407969.1:c.788-642del intron variant NM_001407970.1:c.788-1749del intron variant NM_001407971.1:c.788-1749del intron variant NM_001407972.1:c.785-1749del intron variant NM_001407973.1:c.788-1749del intron variant NM_001407974.1:c.788-1749del intron variant NM_001407975.1:c.788-1749del intron variant NM_001407976.1:c.788-1749del intron variant NM_001407977.1:c.788-1749del intron variant NM_001407978.1:c.788-1749del intron variant NM_001407979.1:c.788-1749del intron variant NM_001407980.1:c.788-1749del intron variant NM_001407981.1:c.788-1749del intron variant NM_001407982.1:c.788-1749del intron variant NM_001407983.1:c.788-1749del intron variant NM_001407984.1:c.785-1749del intron variant NM_001407985.1:c.785-1749del intron variant NM_001407986.1:c.785-1749del intron variant NM_001407990.1:c.788-1749del intron variant NM_001407991.1:c.785-1749del intron variant NM_001407992.1:c.785-1749del intron variant NM_001407993.1:c.788-1749del intron variant NM_001408392.1:c.785-1749del intron variant NM_001408396.1:c.785-1749del intron variant NM_001408397.1:c.785-1749del intron variant NM_001408398.1:c.785-1749del intron variant NM_001408399.1:c.785-1749del intron variant NM_001408400.1:c.785-1749del intron variant NM_001408401.1:c.785-1749del intron variant NM_001408402.1:c.785-1749del intron variant NM_001408403.1:c.788-1749del intron variant NM_001408404.1:c.788-1749del intron variant NM_001408406.1:c.791-1758del intron variant NM_001408407.1:c.785-1749del intron variant NM_001408408.1:c.779-1749del intron variant NM_001408409.1:c.710-1749del intron variant NM_001408410.1:c.647-1749del intron variant NM_001408411.1:c.710-1749del intron variant NM_001408412.1:c.710-1749del intron variant NM_001408413.1:c.707-1749del intron variant NM_001408414.1:c.710-1749del intron variant NM_001408415.1:c.710-1749del intron variant NM_001408416.1:c.707-1749del intron variant NM_001408418.1:c.671-1749del intron variant NM_001408419.1:c.671-1749del intron variant NM_001408420.1:c.671-1749del intron variant NM_001408421.1:c.668-1749del intron variant NM_001408422.1:c.671-1749del intron variant NM_001408423.1:c.671-1749del intron variant NM_001408424.1:c.668-1749del intron variant NM_001408425.1:c.665-1749del intron variant NM_001408426.1:c.665-1749del intron variant NM_001408427.1:c.665-1749del intron variant NM_001408428.1:c.665-1749del intron variant NM_001408429.1:c.665-1749del intron variant NM_001408430.1:c.665-1749del intron variant NM_001408431.1:c.668-1749del intron variant NM_001408432.1:c.662-1749del intron variant NM_001408433.1:c.662-1749del intron variant NM_001408434.1:c.662-1749del intron variant NM_001408435.1:c.662-1749del intron variant NM_001408436.1:c.665-1749del intron variant NM_001408437.1:c.665-1749del intron variant NM_001408438.1:c.665-1749del intron variant NM_001408439.1:c.665-1749del intron variant NM_001408440.1:c.665-1749del intron variant NM_001408441.1:c.665-1749del intron variant NM_001408442.1:c.665-1749del intron variant NM_001408443.1:c.665-1749del intron variant NM_001408444.1:c.665-1749del intron variant NM_001408445.1:c.662-1749del intron variant NM_001408446.1:c.662-1749del intron variant NM_001408447.1:c.662-1749del intron variant NM_001408448.1:c.662-1749del intron variant NM_001408450.1:c.662-1749del intron variant NM_001408451.1:c.653-1749del intron variant NM_001408452.1:c.647-1749del intron variant NM_001408453.1:c.647-1749del intron variant NM_001408454.1:c.647-1749del intron variant NM_001408455.1:c.647-1749del intron variant NM_001408456.1:c.647-1749del intron variant NM_001408457.1:c.647-1749del intron variant NM_001408458.1:c.647-1749del intron variant NM_001408459.1:c.647-1749del intron variant NM_001408460.1:c.647-1749del intron variant NM_001408461.1:c.647-1749del intron variant NM_001408462.1:c.644-1749del intron variant NM_001408463.1:c.644-1749del intron variant NM_001408464.1:c.644-1749del intron variant NM_001408465.1:c.644-1749del intron variant NM_001408466.1:c.647-1749del intron variant NM_001408467.1:c.647-1749del intron variant NM_001408468.1:c.644-1749del intron variant NM_001408469.1:c.647-1749del intron variant NM_001408470.1:c.644-1749del intron variant NM_001408472.1:c.788-1749del intron variant NM_001408473.1:c.785-1749del intron variant NM_001408474.1:c.587-1749del intron variant NM_001408475.1:c.584-1749del intron variant NM_001408476.1:c.587-1749del intron variant NM_001408478.1:c.578-1749del intron variant NM_001408479.1:c.578-1749del intron variant NM_001408480.1:c.578-1749del intron variant NM_001408481.1:c.578-1749del intron variant NM_001408482.1:c.578-1749del intron variant NM_001408483.1:c.578-1749del intron variant NM_001408484.1:c.578-1749del intron variant NM_001408485.1:c.578-1749del intron variant NM_001408489.1:c.578-1749del intron variant NM_001408490.1:c.575-1749del intron variant NM_001408491.1:c.575-1749del intron variant NM_001408492.1:c.578-1749del intron variant NM_001408493.1:c.575-1749del intron variant NM_001408494.1:c.548-1749del intron variant NM_001408495.1:c.545-1749del intron variant NM_001408496.1:c.524-1749del intron variant NM_001408497.1:c.524-1749del intron variant NM_001408498.1:c.524-1749del intron variant NM_001408499.1:c.524-1749del intron variant NM_001408500.1:c.524-1749del intron variant NM_001408501.1:c.524-1749del intron variant NM_001408502.1:c.455-1749del intron variant NM_001408503.1:c.521-1749del intron variant NM_001408504.1:c.521-1749del intron variant NM_001408505.1:c.521-1749del intron variant NM_001408506.1:c.461-1749del intron variant NM_001408507.1:c.461-1749del intron variant NM_001408508.1:c.452-1749del intron variant NM_001408509.1:c.452-1749del intron variant NM_001408510.1:c.407-1749del intron variant NM_001408511.1:c.404-1749del intron variant NM_001408512.1:c.284-1749del intron variant NM_001408513.1:c.578-1749del intron variant NM_001408514.1:c.578-1749del intron variant NM_007294.3:c.2750delT NP_009225.1:p.Ile917Thrfs frameshift NM_007297.4:c.2609del NP_009228.2:p.Ile870fs frameshift NM_007298.4:c.788-1749del intron variant NM_007299.4:c.788-1749del intron variant NM_007300.4:c.2750del NP_009231.2:p.Ile917fs frameshift NR_027676.1:n.2886delT NC_000017.11:g.43092781del NC_000017.10:g.41244798del NG_005905.2:g.125203del LRG_292:g.125203del LRG_292t1:c.2750del LRG_292p1:p.Ile917fs - Protein change
- I870fs, I917fs, I789fs, I790fs, I805fs, I846fs, I849fs, I890fs, I891fs, I621fs, I806fs, I847fs, I869fs, I876fs, I916fs, I749fs, I828fs, I829fs, I850fs, I875fs, I914fs
- Other names
- 2869delT
- Canonical SPDI
- NC_000017.11:43092780:A:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12795 | 14565 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (2) |
reviewed by expert panel
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Oct 18, 2016 | RCV000256745.6 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Oct 18, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323509.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325454.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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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
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs886040067 ...
HelpRecord last updated Mar 30, 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.