ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.432_433del (p.Pro145fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.432_433del (p.Pro145fs)
Variation ID: 2576281 Accession: VCV002576281.1
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43104130-43104131 (GRCh38) [ NCBI UCSC ] 17: 41256147-41256148 (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 Aug 19, 2023 Aug 19, 2023 Aug 15, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.432_433del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro145fs frameshift NM_007294.4:c.432_433delTC MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
frameshift NM_001407571.1:c.222_223del NP_001394500.1:p.Pro75fs frameshift NM_001407581.1:c.432_433del NP_001394510.1:p.Pro145fs frameshift NM_001407582.1:c.432_433del NP_001394511.1:p.Pro145fs frameshift NM_001407583.1:c.432_433del NP_001394512.1:p.Pro145fs frameshift NM_001407585.1:c.432_433del NP_001394514.1:p.Pro145fs frameshift NM_001407587.1:c.432_433del NP_001394516.1:p.Pro145fs frameshift NM_001407590.1:c.432_433del NP_001394519.1:p.Pro145fs frameshift NM_001407591.1:c.432_433del NP_001394520.1:p.Pro145fs frameshift NM_001407593.1:c.432_433del NP_001394522.1:p.Pro145fs frameshift NM_001407594.1:c.432_433del NP_001394523.1:p.Pro145fs frameshift NM_001407596.1:c.432_433del NP_001394525.1:p.Pro145fs frameshift NM_001407597.1:c.432_433del NP_001394526.1:p.Pro145fs frameshift NM_001407598.1:c.432_433del NP_001394527.1:p.Pro145fs frameshift NM_001407602.1:c.432_433del NP_001394531.1:p.Pro145fs frameshift NM_001407603.1:c.432_433del NP_001394532.1:p.Pro145fs frameshift NM_001407605.1:c.432_433del NP_001394534.1:p.Pro145fs frameshift NM_001407610.1:c.432_433del NP_001394539.1:p.Pro145fs frameshift NM_001407611.1:c.432_433del NP_001394540.1:p.Pro145fs frameshift NM_001407612.1:c.432_433del NP_001394541.1:p.Pro145fs frameshift NM_001407613.1:c.432_433del NP_001394542.1:p.Pro145fs frameshift NM_001407614.1:c.432_433del NP_001394543.1:p.Pro145fs frameshift NM_001407615.1:c.432_433del NP_001394544.1:p.Pro145fs frameshift NM_001407616.1:c.432_433del NP_001394545.1:p.Pro145fs frameshift NM_001407617.1:c.432_433del NP_001394546.1:p.Pro145fs frameshift NM_001407618.1:c.432_433del NP_001394547.1:p.Pro145fs frameshift NM_001407619.1:c.432_433del NP_001394548.1:p.Pro145fs frameshift NM_001407620.1:c.432_433del NP_001394549.1:p.Pro145fs frameshift NM_001407621.1:c.432_433del NP_001394550.1:p.Pro145fs frameshift NM_001407622.1:c.432_433del NP_001394551.1:p.Pro145fs frameshift NM_001407623.1:c.432_433del NP_001394552.1:p.Pro145fs frameshift NM_001407624.1:c.432_433del NP_001394553.1:p.Pro145fs frameshift NM_001407625.1:c.432_433del NP_001394554.1:p.Pro145fs frameshift NM_001407626.1:c.432_433del NP_001394555.1:p.Pro145fs frameshift NM_001407627.1:c.432_433del NP_001394556.1:p.Pro145fs frameshift NM_001407628.1:c.432_433del NP_001394557.1:p.Pro145fs frameshift NM_001407629.1:c.432_433del NP_001394558.1:p.Pro145fs frameshift NM_001407630.1:c.432_433del NP_001394559.1:p.Pro145fs frameshift NM_001407631.1:c.432_433del NP_001394560.1:p.Pro145fs frameshift NM_001407632.1:c.432_433del NP_001394561.1:p.Pro145fs frameshift NM_001407633.1:c.432_433del NP_001394562.1:p.Pro145fs frameshift NM_001407634.1:c.432_433del NP_001394563.1:p.Pro145fs frameshift NM_001407635.1:c.432_433del NP_001394564.1:p.Pro145fs frameshift NM_001407636.1:c.432_433del NP_001394565.1:p.Pro145fs frameshift NM_001407637.1:c.432_433del NP_001394566.1:p.Pro145fs frameshift NM_001407638.1:c.432_433del NP_001394567.1:p.Pro145fs frameshift NM_001407639.1:c.432_433del NP_001394568.1:p.Pro145fs frameshift NM_001407640.1:c.432_433del NP_001394569.1:p.Pro145fs frameshift NM_001407641.1:c.432_433del NP_001394570.1:p.Pro145fs frameshift NM_001407642.1:c.432_433del NP_001394571.1:p.Pro145fs frameshift NM_001407644.1:c.432_433del NP_001394573.1:p.Pro145fs frameshift NM_001407645.1:c.432_433del NP_001394574.1:p.Pro145fs frameshift NM_001407646.1:c.423_424del NP_001394575.1:p.Pro142fs frameshift NM_001407647.1:c.423_424del NP_001394576.1:p.Pro142fs frameshift NM_001407648.1:c.432_433del NP_001394577.1:p.Pro145fs frameshift NM_001407649.1:c.432_433del NP_001394578.1:p.Pro145fs frameshift NM_001407652.1:c.432_433del NP_001394581.1:p.Pro145fs frameshift NM_001407653.1:c.354_355del NP_001394582.1:p.Pro119fs frameshift NM_001407654.1:c.354_355del NP_001394583.1:p.Pro119fs frameshift NM_001407655.1:c.354_355del NP_001394584.1:p.Pro119fs frameshift NM_001407656.1:c.354_355del NP_001394585.1:p.Pro119fs frameshift NM_001407657.1:c.354_355del NP_001394586.1:p.Pro119fs frameshift NM_001407658.1:c.354_355del NP_001394587.1:p.Pro119fs frameshift NM_001407659.1:c.354_355del NP_001394588.1:p.Pro119fs frameshift NM_001407660.1:c.354_355del NP_001394589.1:p.Pro119fs frameshift NM_001407661.1:c.354_355del NP_001394590.1:p.Pro119fs frameshift NM_001407662.1:c.354_355del NP_001394591.1:p.Pro119fs frameshift NM_001407663.1:c.354_355del NP_001394592.1:p.Pro119fs frameshift NM_001407664.1:c.432_433del NP_001394593.1:p.Pro145fs frameshift NM_001407665.1:c.432_433del NP_001394594.1:p.Pro145fs frameshift NM_001407666.1:c.432_433del NP_001394595.1:p.Pro145fs frameshift NM_001407667.1:c.432_433del NP_001394596.1:p.Pro145fs frameshift NM_001407668.1:c.432_433del NP_001394597.1:p.Pro145fs frameshift NM_001407669.1:c.432_433del NP_001394598.1:p.Pro145fs frameshift NM_001407670.1:c.432_433del NP_001394599.1:p.Pro145fs frameshift NM_001407671.1:c.432_433del NP_001394600.1:p.Pro145fs frameshift NM_001407672.1:c.432_433del NP_001394601.1:p.Pro145fs frameshift NM_001407673.1:c.432_433del NP_001394602.1:p.Pro145fs frameshift NM_001407674.1:c.432_433del NP_001394603.1:p.Pro145fs frameshift NM_001407675.1:c.432_433del NP_001394604.1:p.Pro145fs frameshift NM_001407676.1:c.432_433del NP_001394605.1:p.Pro145fs frameshift NM_001407677.1:c.432_433del NP_001394606.1:p.Pro145fs frameshift NM_001407678.1:c.432_433del NP_001394607.1:p.Pro145fs frameshift NM_001407679.1:c.432_433del NP_001394608.1:p.Pro145fs frameshift NM_001407680.1:c.432_433del NP_001394609.1:p.Pro145fs frameshift NM_001407681.1:c.432_433del NP_001394610.1:p.Pro145fs frameshift NM_001407682.1:c.432_433del NP_001394611.1:p.Pro145fs frameshift NM_001407683.1:c.432_433del NP_001394612.1:p.Pro145fs frameshift NM_001407684.1:c.432_433del NP_001394613.1:p.Pro145fs frameshift NM_001407685.1:c.432_433del NP_001394614.1:p.Pro145fs frameshift NM_001407686.1:c.432_433del NP_001394615.1:p.Pro145fs frameshift NM_001407687.1:c.432_433del NP_001394616.1:p.Pro145fs frameshift NM_001407688.1:c.432_433del NP_001394617.1:p.Pro145fs frameshift NM_001407689.1:c.432_433del NP_001394618.1:p.Pro145fs frameshift NM_001407690.1:c.432_433del NP_001394619.1:p.Pro145fs frameshift NM_001407691.1:c.432_433del NP_001394620.1:p.Pro145fs frameshift NM_001407692.1:c.291_292del NP_001394621.1:p.Pro98fs frameshift NM_001407694.1:c.291_292del NP_001394623.1:p.Pro98fs frameshift NM_001407695.1:c.291_292del NP_001394624.1:p.Pro98fs frameshift NM_001407696.1:c.291_292del NP_001394625.1:p.Pro98fs frameshift NM_001407697.1:c.291_292del NP_001394626.1:p.Pro98fs frameshift NM_001407698.1:c.291_292del NP_001394627.1:p.Pro98fs frameshift NM_001407724.1:c.291_292del NP_001394653.1:p.Pro98fs frameshift NM_001407725.1:c.291_292del NP_001394654.1:p.Pro98fs frameshift NM_001407726.1:c.291_292del NP_001394655.1:p.Pro98fs frameshift NM_001407727.1:c.291_292del NP_001394656.1:p.Pro98fs frameshift NM_001407728.1:c.291_292del NP_001394657.1:p.Pro98fs frameshift NM_001407729.1:c.291_292del NP_001394658.1:p.Pro98fs frameshift NM_001407730.1:c.291_292del NP_001394659.1:p.Pro98fs frameshift NM_001407731.1:c.291_292del NP_001394660.1:p.Pro98fs frameshift NM_001407732.1:c.291_292del NP_001394661.1:p.Pro98fs frameshift NM_001407733.1:c.291_292del NP_001394662.1:p.Pro98fs frameshift NM_001407734.1:c.291_292del NP_001394663.1:p.Pro98fs frameshift NM_001407735.1:c.291_292del NP_001394664.1:p.Pro98fs frameshift NM_001407736.1:c.291_292del NP_001394665.1:p.Pro98fs frameshift NM_001407737.1:c.291_292del NP_001394666.1:p.Pro98fs frameshift NM_001407738.1:c.291_292del NP_001394667.1:p.Pro98fs frameshift NM_001407739.1:c.291_292del NP_001394668.1:p.Pro98fs frameshift NM_001407740.1:c.291_292del NP_001394669.1:p.Pro98fs frameshift NM_001407741.1:c.291_292del NP_001394670.1:p.Pro98fs frameshift NM_001407742.1:c.291_292del NP_001394671.1:p.Pro98fs frameshift NM_001407743.1:c.291_292del NP_001394672.1:p.Pro98fs frameshift NM_001407744.1:c.291_292del NP_001394673.1:p.Pro98fs frameshift NM_001407745.1:c.291_292del NP_001394674.1:p.Pro98fs frameshift NM_001407746.1:c.291_292del NP_001394675.1:p.Pro98fs frameshift NM_001407747.1:c.291_292del NP_001394676.1:p.Pro98fs frameshift NM_001407748.1:c.291_292del NP_001394677.1:p.Pro98fs frameshift NM_001407749.1:c.291_292del NP_001394678.1:p.Pro98fs frameshift NM_001407750.1:c.291_292del NP_001394679.1:p.Pro98fs frameshift NM_001407751.1:c.291_292del NP_001394680.1:p.Pro98fs frameshift NM_001407752.1:c.291_292del NP_001394681.1:p.Pro98fs frameshift NM_001407838.1:c.291_292del NP_001394767.1:p.Pro98fs frameshift NM_001407839.1:c.291_292del NP_001394768.1:p.Pro98fs frameshift NM_001407841.1:c.291_292del NP_001394770.1:p.Pro98fs frameshift NM_001407842.1:c.291_292del NP_001394771.1:p.Pro98fs frameshift NM_001407843.1:c.291_292del NP_001394772.1:p.Pro98fs frameshift NM_001407844.1:c.291_292del NP_001394773.1:p.Pro98fs frameshift NM_001407845.1:c.291_292del NP_001394774.1:p.Pro98fs frameshift NM_001407846.1:c.291_292del NP_001394775.1:p.Pro98fs frameshift NM_001407847.1:c.291_292del NP_001394776.1:p.Pro98fs frameshift NM_001407848.1:c.291_292del NP_001394777.1:p.Pro98fs frameshift NM_001407849.1:c.291_292del NP_001394778.1:p.Pro98fs frameshift NM_001407850.1:c.291_292del NP_001394779.1:p.Pro98fs frameshift NM_001407851.1:c.291_292del NP_001394780.1:p.Pro98fs frameshift NM_001407852.1:c.291_292del NP_001394781.1:p.Pro98fs frameshift NM_001407853.1:c.222_223del NP_001394782.1:p.Pro75fs frameshift NM_001407854.1:c.432_433del NP_001394783.1:p.Pro145fs frameshift NM_001407858.1:c.432_433del NP_001394787.1:p.Pro145fs frameshift NM_001407859.1:c.432_433del NP_001394788.1:p.Pro145fs frameshift NM_001407860.1:c.432_433del NP_001394789.1:p.Pro145fs frameshift NM_001407861.1:c.432_433del NP_001394790.1:p.Pro145fs frameshift NM_001407862.1:c.354_355del NP_001394791.1:p.Pro119fs frameshift NM_001407863.1:c.432_433del NP_001394792.1:p.Pro145fs frameshift NM_001407874.1:c.354_355del NP_001394803.1:p.Pro119fs frameshift NM_001407875.1:c.354_355del NP_001394804.1:p.Pro119fs frameshift NM_001407879.1:c.222_223del NP_001394808.1:p.Pro75fs frameshift NM_001407881.1:c.222_223del NP_001394810.1:p.Pro75fs frameshift NM_001407882.1:c.222_223del NP_001394811.1:p.Pro75fs frameshift NM_001407884.1:c.222_223del NP_001394813.1:p.Pro75fs frameshift NM_001407885.1:c.222_223del NP_001394814.1:p.Pro75fs frameshift NM_001407886.1:c.222_223del NP_001394815.1:p.Pro75fs frameshift NM_001407887.1:c.222_223del NP_001394816.1:p.Pro75fs frameshift NM_001407889.1:c.222_223del NP_001394818.1:p.Pro75fs frameshift NM_001407894.1:c.222_223del NP_001394823.1:p.Pro75fs frameshift NM_001407895.1:c.222_223del NP_001394824.1:p.Pro75fs frameshift NM_001407896.1:c.222_223del NP_001394825.1:p.Pro75fs frameshift NM_001407897.1:c.222_223del NP_001394826.1:p.Pro75fs frameshift NM_001407898.1:c.222_223del NP_001394827.1:p.Pro75fs frameshift NM_001407899.1:c.222_223del NP_001394828.1:p.Pro75fs frameshift NM_001407900.1:c.222_223del NP_001394829.1:p.Pro75fs frameshift NM_001407902.1:c.222_223del NP_001394831.1:p.Pro75fs frameshift NM_001407904.1:c.222_223del NP_001394833.1:p.Pro75fs frameshift NM_001407906.1:c.222_223del NP_001394835.1:p.Pro75fs frameshift NM_001407907.1:c.222_223del NP_001394836.1:p.Pro75fs frameshift NM_001407908.1:c.222_223del NP_001394837.1:p.Pro75fs frameshift NM_001407909.1:c.222_223del NP_001394838.1:p.Pro75fs frameshift NM_001407910.1:c.222_223del NP_001394839.1:p.Pro75fs frameshift NM_001407915.1:c.222_223del NP_001394844.1:p.Pro75fs frameshift NM_001407916.1:c.222_223del NP_001394845.1:p.Pro75fs frameshift NM_001407917.1:c.222_223del NP_001394846.1:p.Pro75fs frameshift NM_001407918.1:c.222_223del NP_001394847.1:p.Pro75fs frameshift NM_001407919.1:c.432_433del NP_001394848.1:p.Pro145fs frameshift NM_001407920.1:c.291_292del NP_001394849.1:p.Pro98fs frameshift NM_001407921.1:c.291_292del NP_001394850.1:p.Pro98fs frameshift NM_001407922.1:c.291_292del NP_001394851.1:p.Pro98fs frameshift NM_001407923.1:c.291_292del NP_001394852.1:p.Pro98fs frameshift NM_001407924.1:c.291_292del NP_001394853.1:p.Pro98fs frameshift NM_001407925.1:c.291_292del NP_001394854.1:p.Pro98fs frameshift NM_001407926.1:c.291_292del NP_001394855.1:p.Pro98fs frameshift NM_001407927.1:c.291_292del NP_001394856.1:p.Pro98fs frameshift NM_001407928.1:c.291_292del NP_001394857.1:p.Pro98fs frameshift NM_001407929.1:c.291_292del NP_001394858.1:p.Pro98fs frameshift NM_001407930.1:c.291_292del NP_001394859.1:p.Pro98fs frameshift NM_001407931.1:c.291_292del NP_001394860.1:p.Pro98fs frameshift NM_001407932.1:c.291_292del NP_001394861.1:p.Pro98fs frameshift NM_001407933.1:c.291_292del NP_001394862.1:p.Pro98fs frameshift NM_001407934.1:c.291_292del NP_001394863.1:p.Pro98fs frameshift NM_001407935.1:c.291_292del NP_001394864.1:p.Pro98fs frameshift NM_001407936.1:c.291_292del NP_001394865.1:p.Pro98fs frameshift NM_001407937.1:c.432_433del NP_001394866.1:p.Pro145fs frameshift NM_001407938.1:c.432_433del NP_001394867.1:p.Pro145fs frameshift NM_001407939.1:c.432_433del NP_001394868.1:p.Pro145fs frameshift NM_001407940.1:c.432_433del NP_001394869.1:p.Pro145fs frameshift NM_001407941.1:c.432_433del NP_001394870.1:p.Pro145fs frameshift NM_001407942.1:c.291_292del NP_001394871.1:p.Pro98fs frameshift NM_001407943.1:c.291_292del NP_001394872.1:p.Pro98fs frameshift NM_001407944.1:c.291_292del NP_001394873.1:p.Pro98fs frameshift NM_001407945.1:c.291_292del NP_001394874.1:p.Pro98fs frameshift NM_001407946.1:c.222_223del NP_001394875.1:p.Pro75fs frameshift NM_001407947.1:c.222_223del NP_001394876.1:p.Pro75fs frameshift NM_001407948.1:c.222_223del NP_001394877.1:p.Pro75fs frameshift NM_001407949.1:c.222_223del NP_001394878.1:p.Pro75fs frameshift NM_001407950.1:c.222_223del NP_001394879.1:p.Pro75fs frameshift NM_001407951.1:c.222_223del NP_001394880.1:p.Pro75fs frameshift NM_001407952.1:c.222_223del NP_001394881.1:p.Pro75fs frameshift NM_001407953.1:c.222_223del NP_001394882.1:p.Pro75fs frameshift NM_001407954.1:c.222_223del NP_001394883.1:p.Pro75fs frameshift NM_001407955.1:c.222_223del NP_001394884.1:p.Pro75fs frameshift NM_001407956.1:c.222_223del NP_001394885.1:p.Pro75fs frameshift NM_001407957.1:c.222_223del NP_001394886.1:p.Pro75fs frameshift NM_001407958.1:c.222_223del NP_001394887.1:p.Pro75fs frameshift NM_001407959.1:c.51_52del NP_001394888.1:p.Pro18fs frameshift NM_001407960.1:c.51_52del NP_001394889.1:p.Pro18fs frameshift NM_001407962.1:c.51_52del NP_001394891.1:p.Pro18fs frameshift NM_001407963.1:c.51_52del NP_001394892.1:p.Pro18fs frameshift NM_001407964.1:c.291_292del NP_001394893.1:p.Pro98fs frameshift NM_001407965.1:c.51_52del NP_001394894.1:p.Pro18fs frameshift NM_001407966.1:c.-218-9271_-218-9270del intron variant NM_001407967.1:c.-218-9271_-218-9270del intron variant NM_001407968.1:c.432_433del NP_001394897.1:p.Pro145fs frameshift NM_001407969.1:c.432_433del NP_001394898.1:p.Pro145fs frameshift NM_001407970.1:c.432_433del NP_001394899.1:p.Pro145fs frameshift NM_001407971.1:c.432_433del NP_001394900.1:p.Pro145fs frameshift NM_001407972.1:c.432_433del NP_001394901.1:p.Pro145fs frameshift NM_001407973.1:c.432_433del NP_001394902.1:p.Pro145fs frameshift NM_001407974.1:c.432_433del NP_001394903.1:p.Pro145fs frameshift NM_001407975.1:c.432_433del NP_001394904.1:p.Pro145fs frameshift NM_001407976.1:c.432_433del NP_001394905.1:p.Pro145fs frameshift NM_001407977.1:c.432_433del NP_001394906.1:p.Pro145fs frameshift NM_001407978.1:c.432_433del NP_001394907.1:p.Pro145fs frameshift NM_001407979.1:c.432_433del NP_001394908.1:p.Pro145fs frameshift NM_001407980.1:c.432_433del NP_001394909.1:p.Pro145fs frameshift NM_001407981.1:c.432_433del NP_001394910.1:p.Pro145fs frameshift NM_001407982.1:c.432_433del NP_001394911.1:p.Pro145fs frameshift NM_001407983.1:c.432_433del NP_001394912.1:p.Pro145fs frameshift NM_001407984.1:c.432_433del NP_001394913.1:p.Pro145fs frameshift NM_001407985.1:c.432_433del NP_001394914.1:p.Pro145fs frameshift NM_001407986.1:c.432_433del NP_001394915.1:p.Pro145fs frameshift NM_001407990.1:c.432_433del NP_001394919.1:p.Pro145fs frameshift NM_001407991.1:c.432_433del NP_001394920.1:p.Pro145fs frameshift NM_001407992.1:c.432_433del NP_001394921.1:p.Pro145fs frameshift NM_001407993.1:c.432_433del NP_001394922.1:p.Pro145fs frameshift NM_001408392.1:c.432_433del NP_001395321.1:p.Pro145fs frameshift NM_001408396.1:c.432_433del NP_001395325.1:p.Pro145fs frameshift NM_001408397.1:c.432_433del NP_001395326.1:p.Pro145fs frameshift NM_001408398.1:c.432_433del NP_001395327.1:p.Pro145fs frameshift NM_001408399.1:c.432_433del NP_001395328.1:p.Pro145fs frameshift NM_001408400.1:c.432_433del NP_001395329.1:p.Pro145fs frameshift NM_001408401.1:c.432_433del NP_001395330.1:p.Pro145fs frameshift NM_001408402.1:c.432_433del NP_001395331.1:p.Pro145fs frameshift NM_001408403.1:c.432_433del NP_001395332.1:p.Pro145fs frameshift NM_001408404.1:c.432_433del NP_001395333.1:p.Pro145fs frameshift NM_001408406.1:c.432_433del NP_001395335.1:p.Pro145fs frameshift NM_001408407.1:c.432_433del NP_001395336.1:p.Pro145fs frameshift NM_001408408.1:c.423_424del NP_001395337.1:p.Pro142fs frameshift NM_001408409.1:c.354_355del NP_001395338.1:p.Pro119fs frameshift NM_001408410.1:c.291_292del NP_001395339.1:p.Pro98fs frameshift NM_001408411.1:c.354_355del NP_001395340.1:p.Pro119fs frameshift NM_001408412.1:c.354_355del NP_001395341.1:p.Pro119fs frameshift NM_001408413.1:c.354_355del NP_001395342.1:p.Pro119fs frameshift NM_001408414.1:c.354_355del NP_001395343.1:p.Pro119fs frameshift NM_001408415.1:c.354_355del NP_001395344.1:p.Pro119fs frameshift NM_001408416.1:c.354_355del NP_001395345.1:p.Pro119fs frameshift NM_001408418.1:c.432_433del NP_001395347.1:p.Pro145fs frameshift NM_001408419.1:c.432_433del NP_001395348.1:p.Pro145fs frameshift NM_001408420.1:c.432_433del NP_001395349.1:p.Pro145fs frameshift NM_001408421.1:c.432_433del NP_001395350.1:p.Pro145fs frameshift NM_001408422.1:c.432_433del NP_001395351.1:p.Pro145fs frameshift NM_001408423.1:c.432_433del NP_001395352.1:p.Pro145fs frameshift NM_001408424.1:c.432_433del NP_001395353.1:p.Pro145fs frameshift NM_001408425.1:c.432_433del NP_001395354.1:p.Pro145fs frameshift NM_001408426.1:c.432_433del NP_001395355.1:p.Pro145fs frameshift NM_001408427.1:c.432_433del NP_001395356.1:p.Pro145fs frameshift NM_001408428.1:c.432_433del NP_001395357.1:p.Pro145fs frameshift NM_001408429.1:c.432_433del NP_001395358.1:p.Pro145fs frameshift NM_001408430.1:c.432_433del NP_001395359.1:p.Pro145fs frameshift NM_001408431.1:c.432_433del NP_001395360.1:p.Pro145fs frameshift NM_001408432.1:c.432_433del NP_001395361.1:p.Pro145fs frameshift NM_001408433.1:c.432_433del NP_001395362.1:p.Pro145fs frameshift NM_001408434.1:c.432_433del NP_001395363.1:p.Pro145fs frameshift NM_001408435.1:c.432_433del NP_001395364.1:p.Pro145fs frameshift NM_001408436.1:c.432_433del NP_001395365.1:p.Pro145fs frameshift NM_001408437.1:c.432_433del NP_001395366.1:p.Pro145fs frameshift NM_001408438.1:c.432_433del NP_001395367.1:p.Pro145fs frameshift NM_001408439.1:c.432_433del NP_001395368.1:p.Pro145fs frameshift NM_001408440.1:c.432_433del NP_001395369.1:p.Pro145fs frameshift NM_001408441.1:c.432_433del NP_001395370.1:p.Pro145fs frameshift NM_001408442.1:c.432_433del NP_001395371.1:p.Pro145fs frameshift NM_001408443.1:c.432_433del NP_001395372.1:p.Pro145fs frameshift NM_001408444.1:c.432_433del NP_001395373.1:p.Pro145fs frameshift NM_001408445.1:c.432_433del NP_001395374.1:p.Pro145fs frameshift NM_001408446.1:c.432_433del NP_001395375.1:p.Pro145fs frameshift NM_001408447.1:c.432_433del NP_001395376.1:p.Pro145fs frameshift NM_001408448.1:c.432_433del NP_001395377.1:p.Pro145fs frameshift NM_001408450.1:c.432_433del NP_001395379.1:p.Pro145fs frameshift NM_001408451.1:c.300_301del NP_001395380.1:p.Pro101fs frameshift NM_001408452.1:c.291_292del NP_001395381.1:p.Pro98fs frameshift NM_001408453.1:c.291_292del NP_001395382.1:p.Pro98fs frameshift NM_001408454.1:c.291_292del NP_001395383.1:p.Pro98fs frameshift NM_001408455.1:c.291_292del NP_001395384.1:p.Pro98fs frameshift NM_001408456.1:c.291_292del NP_001395385.1:p.Pro98fs frameshift NM_001408457.1:c.291_292del NP_001395386.1:p.Pro98fs frameshift NM_001408458.1:c.291_292del NP_001395387.1:p.Pro98fs frameshift NM_001408459.1:c.291_292del NP_001395388.1:p.Pro98fs frameshift NM_001408460.1:c.291_292del NP_001395389.1:p.Pro98fs frameshift NM_001408461.1:c.291_292del NP_001395390.1:p.Pro98fs frameshift NM_001408462.1:c.291_292del NP_001395391.1:p.Pro98fs frameshift NM_001408463.1:c.291_292del NP_001395392.1:p.Pro98fs frameshift NM_001408464.1:c.291_292del NP_001395393.1:p.Pro98fs frameshift NM_001408465.1:c.291_292del NP_001395394.1:p.Pro98fs frameshift NM_001408466.1:c.291_292del NP_001395395.1:p.Pro98fs frameshift NM_001408467.1:c.291_292del NP_001395396.1:p.Pro98fs frameshift NM_001408468.1:c.291_292del NP_001395397.1:p.Pro98fs frameshift NM_001408469.1:c.291_292del NP_001395398.1:p.Pro98fs frameshift NM_001408470.1:c.291_292del NP_001395399.1:p.Pro98fs frameshift NM_001408472.1:c.432_433del NP_001395401.1:p.Pro145fs frameshift NM_001408473.1:c.432_433del NP_001395402.1:p.Pro145fs frameshift NM_001408474.1:c.354_355del NP_001395403.1:p.Pro119fs frameshift NM_001408475.1:c.354_355del NP_001395404.1:p.Pro119fs frameshift NM_001408476.1:c.354_355del NP_001395405.1:p.Pro119fs frameshift NM_001408478.1:c.222_223del NP_001395407.1:p.Pro75fs frameshift NM_001408479.1:c.222_223del NP_001395408.1:p.Pro75fs frameshift NM_001408480.1:c.222_223del NP_001395409.1:p.Pro75fs frameshift NM_001408481.1:c.222_223del NP_001395410.1:p.Pro75fs frameshift NM_001408482.1:c.222_223del NP_001395411.1:p.Pro75fs frameshift NM_001408483.1:c.222_223del NP_001395412.1:p.Pro75fs frameshift NM_001408484.1:c.222_223del NP_001395413.1:p.Pro75fs frameshift NM_001408485.1:c.222_223del NP_001395414.1:p.Pro75fs frameshift NM_001408489.1:c.222_223del NP_001395418.1:p.Pro75fs frameshift NM_001408490.1:c.222_223del NP_001395419.1:p.Pro75fs frameshift NM_001408491.1:c.222_223del NP_001395420.1:p.Pro75fs frameshift NM_001408492.1:c.222_223del NP_001395421.1:p.Pro75fs frameshift NM_001408493.1:c.222_223del NP_001395422.1:p.Pro75fs frameshift NM_001408494.1:c.432_433del NP_001395423.1:p.Pro145fs frameshift NM_001408495.1:c.432_433del NP_001395424.1:p.Pro145fs frameshift NM_001408496.1:c.291_292del NP_001395425.1:p.Pro98fs frameshift NM_001408497.1:c.291_292del NP_001395426.1:p.Pro98fs frameshift NM_001408498.1:c.291_292del NP_001395427.1:p.Pro98fs frameshift NM_001408499.1:c.291_292del NP_001395428.1:p.Pro98fs frameshift NM_001408500.1:c.291_292del NP_001395429.1:p.Pro98fs frameshift NM_001408501.1:c.291_292del NP_001395430.1:p.Pro98fs frameshift NM_001408502.1:c.222_223del NP_001395431.1:p.Pro75fs frameshift NM_001408503.1:c.291_292del NP_001395432.1:p.Pro98fs frameshift NM_001408504.1:c.291_292del NP_001395433.1:p.Pro98fs frameshift NM_001408505.1:c.291_292del NP_001395434.1:p.Pro98fs frameshift NM_001408506.1:c.222_223del NP_001395435.1:p.Pro75fs frameshift NM_001408507.1:c.222_223del NP_001395436.1:p.Pro75fs frameshift NM_001408508.1:c.222_223del NP_001395437.1:p.Pro75fs frameshift NM_001408509.1:c.222_223del NP_001395438.1:p.Pro75fs frameshift NM_001408510.1:c.51_52del NP_001395439.1:p.Pro18fs frameshift NM_001408511.1:c.291_292del NP_001395440.1:p.Pro98fs frameshift NM_001408512.1:c.51_52del NP_001395441.1:p.Pro18fs frameshift NM_001408513.1:c.222_223del NP_001395442.1:p.Pro75fs frameshift NM_001408514.1:c.222_223del NP_001395443.1:p.Pro75fs frameshift NM_007297.4:c.291_292del NP_009228.2:p.Pro98fs frameshift NM_007298.4:c.432_433del NP_009229.2:p.Pro145fs frameshift NM_007299.4:c.432_433del NP_009230.2:p.Pro145fs frameshift NM_007300.4:c.432_433del NP_009231.2:p.Pro145fs frameshift NM_007304.2:c.432_433delTC NP_009235.2:p.Pro145Phefs frameshift NR_027676.2:n.612_613delTC NC_000017.11:g.43104130_43104131del NC_000017.10:g.41256147_41256148del NG_005905.2:g.113853_113854del LRG_292:g.113853_113854del LRG_292t1:c.432_433del LRG_292p1:p.Pro145Phefs - Protein change
- P101fs, P119fs, P142fs, P145fs, P18fs, P75fs, P98fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43104129:GA:
-
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 | ||
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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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12940 | 14730 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (1) |
criteria provided, single submitter
|
Aug 15, 2023 | RCV003322340.2 |
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
(Aug 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004026816.1
First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023 |
|
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 this variant ...
HelpRecord last updated Aug 26, 2023
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.