ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.543del (p.Glu181fs)
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.543del (p.Glu181fs)
Variation ID: 1709944 Accession: VCV001709944.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43099779 (GRCh38) [ NCBI UCSC ] 17: 41251796 (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 15, 2022 Oct 15, 2022 Sep 3, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.543del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu181fs frameshift NM_001407571.1:c.329delA NP_001394500.1:p.Glu110Aspfs frameshift NM_001407581.1:c.542delA NP_001394510.1:p.Glu181Aspfs frameshift NM_001407582.1:c.542delA NP_001394511.1:p.Glu181Aspfs frameshift NM_001407583.1:c.542delA NP_001394512.1:p.Glu181Aspfs frameshift NM_001407585.1:c.542delA NP_001394514.1:p.Glu181Aspfs frameshift NM_001407587.1:c.539delA NP_001394516.1:p.Glu180Aspfs frameshift NM_001407590.1:c.539delA NP_001394519.1:p.Glu180Aspfs frameshift NM_001407591.1:c.539delA NP_001394520.1:p.Glu180Aspfs frameshift NM_001407593.1:c.542delA NP_001394522.1:p.Glu181Aspfs frameshift NM_001407594.1:c.542delA NP_001394523.1:p.Glu181Aspfs frameshift NM_001407596.1:c.542delA NP_001394525.1:p.Glu181Aspfs frameshift NM_001407597.1:c.542delA NP_001394526.1:p.Glu181Aspfs frameshift NM_001407598.1:c.542delA NP_001394527.1:p.Glu181Aspfs frameshift NM_001407602.1:c.542delA NP_001394531.1:p.Glu181Aspfs frameshift NM_001407603.1:c.542delA NP_001394532.1:p.Glu181Aspfs frameshift NM_001407605.1:c.542delA NP_001394534.1:p.Glu181Aspfs frameshift NM_001407610.1:c.539delA NP_001394539.1:p.Glu180Aspfs frameshift NM_001407611.1:c.539delA NP_001394540.1:p.Glu180Aspfs frameshift NM_001407612.1:c.539delA NP_001394541.1:p.Glu180Aspfs frameshift NM_001407613.1:c.539delA NP_001394542.1:p.Glu180Aspfs frameshift NM_001407614.1:c.539delA NP_001394543.1:p.Glu180Aspfs frameshift NM_001407615.1:c.539delA NP_001394544.1:p.Glu180Aspfs frameshift NM_001407616.1:c.542delA NP_001394545.1:p.Glu181Aspfs frameshift NM_001407617.1:c.542delA NP_001394546.1:p.Glu181Aspfs frameshift NM_001407618.1:c.542delA NP_001394547.1:p.Glu181Aspfs frameshift NM_001407619.1:c.542delA NP_001394548.1:p.Glu181Aspfs frameshift NM_001407620.1:c.542delA NP_001394549.1:p.Glu181Aspfs frameshift NM_001407621.1:c.542delA NP_001394550.1:p.Glu181Aspfs frameshift NM_001407622.1:c.542delA NP_001394551.1:p.Glu181Aspfs frameshift NM_001407623.1:c.542delA NP_001394552.1:p.Glu181Aspfs frameshift NM_001407624.1:c.542delA NP_001394553.1:p.Glu181Aspfs frameshift NM_001407625.1:c.542delA NP_001394554.1:p.Glu181Aspfs frameshift NM_001407626.1:c.542delA NP_001394555.1:p.Glu181Aspfs frameshift NM_001407627.1:c.539delA NP_001394556.1:p.Glu180Aspfs frameshift NM_001407628.1:c.539delA NP_001394557.1:p.Glu180Aspfs frameshift NM_001407629.1:c.539delA NP_001394558.1:p.Glu180Aspfs frameshift NM_001407630.1:c.539delA NP_001394559.1:p.Glu180Aspfs frameshift NM_001407631.1:c.539delA NP_001394560.1:p.Glu180Aspfs frameshift NM_001407632.1:c.539delA NP_001394561.1:p.Glu180Aspfs frameshift NM_001407633.1:c.539delA NP_001394562.1:p.Glu180Aspfs frameshift NM_001407634.1:c.539delA NP_001394563.1:p.Glu180Aspfs frameshift NM_001407635.1:c.539delA NP_001394564.1:p.Glu180Aspfs frameshift NM_001407636.1:c.539delA NP_001394565.1:p.Glu180Aspfs frameshift NM_001407637.1:c.539delA NP_001394566.1:p.Glu180Aspfs frameshift NM_001407638.1:c.539delA NP_001394567.1:p.Glu180Aspfs frameshift NM_001407639.1:c.542delA NP_001394568.1:p.Glu181Aspfs frameshift NM_001407640.1:c.542delA NP_001394569.1:p.Glu181Aspfs frameshift NM_001407641.1:c.542delA NP_001394570.1:p.Glu181Aspfs frameshift NM_001407642.1:c.542delA NP_001394571.1:p.Glu181Aspfs frameshift NM_001407644.1:c.539delA NP_001394573.1:p.Glu180Aspfs frameshift NM_001407645.1:c.539delA NP_001394574.1:p.Glu180Aspfs frameshift NM_001407646.1:c.533delA NP_001394575.1:p.Glu178Aspfs frameshift NM_001407647.1:c.533delA NP_001394576.1:p.Glu178Aspfs frameshift NM_001407648.1:c.542delA NP_001394577.1:p.Glu181Aspfs frameshift NM_001407649.1:c.539delA NP_001394578.1:p.Glu180Aspfs frameshift NM_001407652.1:c.542delA NP_001394581.1:p.Glu181Aspfs frameshift NM_001407653.1:c.464delA NP_001394582.1:p.Glu155Aspfs frameshift NM_001407654.1:c.464delA NP_001394583.1:p.Glu155Aspfs frameshift NM_001407655.1:c.464delA NP_001394584.1:p.Glu155Aspfs frameshift NM_001407656.1:c.464delA NP_001394585.1:p.Glu155Aspfs frameshift NM_001407657.1:c.464delA NP_001394586.1:p.Glu155Aspfs frameshift NM_001407658.1:c.464delA NP_001394587.1:p.Glu155Aspfs frameshift NM_001407659.1:c.461delA NP_001394588.1:p.Glu154Aspfs frameshift NM_001407660.1:c.461delA NP_001394589.1:p.Glu154Aspfs frameshift NM_001407661.1:c.461delA NP_001394590.1:p.Glu154Aspfs frameshift NM_001407662.1:c.461delA NP_001394591.1:p.Glu154Aspfs frameshift NM_001407663.1:c.464delA NP_001394592.1:p.Glu155Aspfs frameshift NM_001407664.1:c.542delA NP_001394593.1:p.Glu181Aspfs frameshift NM_001407665.1:c.542delA NP_001394594.1:p.Glu181Aspfs frameshift NM_001407666.1:c.542delA NP_001394595.1:p.Glu181Aspfs frameshift NM_001407667.1:c.542delA NP_001394596.1:p.Glu181Aspfs frameshift NM_001407668.1:c.542delA NP_001394597.1:p.Glu181Aspfs frameshift NM_001407669.1:c.542delA NP_001394598.1:p.Glu181Aspfs frameshift NM_001407670.1:c.539delA NP_001394599.1:p.Glu180Aspfs frameshift NM_001407671.1:c.539delA NP_001394600.1:p.Glu180Aspfs frameshift NM_001407672.1:c.539delA NP_001394601.1:p.Glu180Aspfs frameshift NM_001407673.1:c.539delA NP_001394602.1:p.Glu180Aspfs frameshift NM_001407674.1:c.542delA NP_001394603.1:p.Glu181Aspfs frameshift NM_001407675.1:c.542delA NP_001394604.1:p.Glu181Aspfs frameshift NM_001407676.1:c.542delA NP_001394605.1:p.Glu181Aspfs frameshift NM_001407677.1:c.542delA NP_001394606.1:p.Glu181Aspfs frameshift NM_001407678.1:c.542delA NP_001394607.1:p.Glu181Aspfs frameshift NM_001407679.1:c.542delA NP_001394608.1:p.Glu181Aspfs frameshift NM_001407680.1:c.542delA NP_001394609.1:p.Glu181Aspfs frameshift NM_001407681.1:c.542delA NP_001394610.1:p.Glu181Aspfs frameshift NM_001407682.1:c.542delA NP_001394611.1:p.Glu181Aspfs frameshift NM_001407683.1:c.542delA NP_001394612.1:p.Glu181Aspfs frameshift NM_001407684.1:c.542delA NP_001394613.1:p.Glu181Aspfs frameshift NM_001407685.1:c.539delA NP_001394614.1:p.Glu180Aspfs frameshift NM_001407686.1:c.539delA NP_001394615.1:p.Glu180Aspfs frameshift NM_001407687.1:c.539delA NP_001394616.1:p.Glu180Aspfs frameshift NM_001407688.1:c.539delA NP_001394617.1:p.Glu180Aspfs frameshift NM_001407689.1:c.539delA NP_001394618.1:p.Glu180Aspfs frameshift NM_001407690.1:c.539delA NP_001394619.1:p.Glu180Aspfs frameshift NM_001407691.1:c.539delA NP_001394620.1:p.Glu180Aspfs frameshift NM_001407692.1:c.401delA NP_001394621.1:p.Glu134Aspfs frameshift NM_001407694.1:c.401delA NP_001394623.1:p.Glu134Aspfs frameshift NM_001407695.1:c.401delA NP_001394624.1:p.Glu134Aspfs frameshift NM_001407696.1:c.401delA NP_001394625.1:p.Glu134Aspfs frameshift NM_001407697.1:c.401delA NP_001394626.1:p.Glu134Aspfs frameshift NM_001407698.1:c.401delA NP_001394627.1:p.Glu134Aspfs frameshift NM_001407724.1:c.401delA NP_001394653.1:p.Glu134Aspfs frameshift NM_001407725.1:c.401delA NP_001394654.1:p.Glu134Aspfs frameshift NM_001407726.1:c.401delA NP_001394655.1:p.Glu134Aspfs frameshift NM_001407727.1:c.401delA NP_001394656.1:p.Glu134Aspfs frameshift NM_001407728.1:c.401delA NP_001394657.1:p.Glu134Aspfs frameshift NM_001407729.1:c.401delA NP_001394658.1:p.Glu134Aspfs frameshift NM_001407730.1:c.401delA NP_001394659.1:p.Glu134Aspfs frameshift NM_001407731.1:c.401delA NP_001394660.1:p.Glu134Aspfs frameshift NM_001407732.1:c.401delA NP_001394661.1:p.Glu134Aspfs frameshift NM_001407733.1:c.401delA NP_001394662.1:p.Glu134Aspfs frameshift NM_001407734.1:c.401delA NP_001394663.1:p.Glu134Aspfs frameshift NM_001407735.1:c.401delA NP_001394664.1:p.Glu134Aspfs frameshift NM_001407736.1:c.401delA NP_001394665.1:p.Glu134Aspfs frameshift NM_001407737.1:c.401delA NP_001394666.1:p.Glu134Aspfs frameshift NM_001407738.1:c.401delA NP_001394667.1:p.Glu134Aspfs frameshift NM_001407739.1:c.401delA NP_001394668.1:p.Glu134Aspfs frameshift NM_001407740.1:c.398delA NP_001394669.1:p.Glu133Aspfs frameshift NM_001407741.1:c.398delA NP_001394670.1:p.Glu133Aspfs frameshift NM_001407742.1:c.398delA NP_001394671.1:p.Glu133Aspfs frameshift NM_001407743.1:c.398delA NP_001394672.1:p.Glu133Aspfs frameshift NM_001407744.1:c.398delA NP_001394673.1:p.Glu133Aspfs frameshift NM_001407745.1:c.398delA NP_001394674.1:p.Glu133Aspfs frameshift NM_001407746.1:c.398delA NP_001394675.1:p.Glu133Aspfs frameshift NM_001407747.1:c.398delA NP_001394676.1:p.Glu133Aspfs frameshift NM_001407748.1:c.398delA NP_001394677.1:p.Glu133Aspfs frameshift NM_001407749.1:c.398delA NP_001394678.1:p.Glu133Aspfs frameshift NM_001407750.1:c.401delA NP_001394679.1:p.Glu134Aspfs frameshift NM_001407751.1:c.401delA NP_001394680.1:p.Glu134Aspfs frameshift NM_001407752.1:c.401delA NP_001394681.1:p.Glu134Aspfs frameshift NM_001407838.1:c.398delA NP_001394767.1:p.Glu133Aspfs frameshift NM_001407839.1:c.398delA NP_001394768.1:p.Glu133Aspfs frameshift NM_001407841.1:c.398delA NP_001394770.1:p.Glu133Aspfs frameshift NM_001407842.1:c.398delA NP_001394771.1:p.Glu133Aspfs frameshift NM_001407843.1:c.398delA NP_001394772.1:p.Glu133Aspfs frameshift NM_001407844.1:c.398delA NP_001394773.1:p.Glu133Aspfs frameshift NM_001407845.1:c.398delA NP_001394774.1:p.Glu133Aspfs frameshift NM_001407846.1:c.398delA NP_001394775.1:p.Glu133Aspfs frameshift NM_001407847.1:c.398delA NP_001394776.1:p.Glu133Aspfs frameshift NM_001407848.1:c.398delA NP_001394777.1:p.Glu133Aspfs frameshift NM_001407849.1:c.398delA NP_001394778.1:p.Glu133Aspfs frameshift NM_001407850.1:c.401delA NP_001394779.1:p.Glu134Aspfs frameshift NM_001407851.1:c.401delA NP_001394780.1:p.Glu134Aspfs frameshift NM_001407852.1:c.401delA NP_001394781.1:p.Glu134Aspfs frameshift NM_001407853.1:c.329delA NP_001394782.1:p.Glu110Aspfs frameshift NM_001407854.1:c.542delA NP_001394783.1:p.Glu181Aspfs frameshift NM_001407858.1:c.542delA NP_001394787.1:p.Glu181Aspfs frameshift NM_001407859.1:c.542delA NP_001394788.1:p.Glu181Aspfs frameshift NM_001407860.1:c.539delA NP_001394789.1:p.Glu180Aspfs frameshift NM_001407861.1:c.539delA NP_001394790.1:p.Glu180Aspfs frameshift NM_001407862.1:c.464delA NP_001394791.1:p.Glu155Aspfs frameshift NM_001407863.1:c.542delA NP_001394792.1:p.Glu181Aspfs frameshift NM_001407874.1:c.461delA NP_001394803.1:p.Glu154Aspfs frameshift NM_001407875.1:c.461delA NP_001394804.1:p.Glu154Aspfs frameshift NM_001407879.1:c.332delA NP_001394808.1:p.Glu111Aspfs frameshift NM_001407881.1:c.332delA NP_001394810.1:p.Glu111Aspfs frameshift NM_001407882.1:c.332delA NP_001394811.1:p.Glu111Aspfs frameshift NM_001407884.1:c.332delA NP_001394813.1:p.Glu111Aspfs frameshift NM_001407885.1:c.332delA NP_001394814.1:p.Glu111Aspfs frameshift NM_001407886.1:c.332delA NP_001394815.1:p.Glu111Aspfs frameshift NM_001407887.1:c.332delA NP_001394816.1:p.Glu111Aspfs frameshift NM_001407889.1:c.332delA NP_001394818.1:p.Glu111Aspfs frameshift NM_001407894.1:c.329delA NP_001394823.1:p.Glu110Aspfs frameshift NM_001407895.1:c.329delA NP_001394824.1:p.Glu110Aspfs frameshift NM_001407896.1:c.329delA NP_001394825.1:p.Glu110Aspfs frameshift NM_001407897.1:c.329delA NP_001394826.1:p.Glu110Aspfs frameshift NM_001407898.1:c.329delA NP_001394827.1:p.Glu110Aspfs frameshift NM_001407899.1:c.329delA NP_001394828.1:p.Glu110Aspfs frameshift NM_001407900.1:c.332delA NP_001394829.1:p.Glu111Aspfs frameshift NM_001407902.1:c.332delA NP_001394831.1:p.Glu111Aspfs frameshift NM_001407904.1:c.332delA NP_001394833.1:p.Glu111Aspfs frameshift NM_001407906.1:c.332delA NP_001394835.1:p.Glu111Aspfs frameshift NM_001407907.1:c.332delA NP_001394836.1:p.Glu111Aspfs frameshift NM_001407908.1:c.332delA NP_001394837.1:p.Glu111Aspfs frameshift NM_001407909.1:c.332delA NP_001394838.1:p.Glu111Aspfs frameshift NM_001407910.1:c.332delA NP_001394839.1:p.Glu111Aspfs frameshift NM_001407915.1:c.329delA NP_001394844.1:p.Glu110Aspfs frameshift NM_001407916.1:c.329delA NP_001394845.1:p.Glu110Aspfs frameshift NM_001407917.1:c.329delA NP_001394846.1:p.Glu110Aspfs frameshift NM_001407918.1:c.329delA NP_001394847.1:p.Glu110Aspfs frameshift NM_001407919.1:c.542delA NP_001394848.1:p.Glu181Aspfs frameshift NM_001407920.1:c.401delA NP_001394849.1:p.Glu134Aspfs frameshift NM_001407921.1:c.401delA NP_001394850.1:p.Glu134Aspfs frameshift NM_001407922.1:c.401delA NP_001394851.1:p.Glu134Aspfs frameshift NM_001407923.1:c.401delA NP_001394852.1:p.Glu134Aspfs frameshift NM_001407924.1:c.401delA NP_001394853.1:p.Glu134Aspfs frameshift NM_001407925.1:c.401delA NP_001394854.1:p.Glu134Aspfs frameshift NM_001407926.1:c.401delA NP_001394855.1:p.Glu134Aspfs frameshift NM_001407927.1:c.401delA NP_001394856.1:p.Glu134Aspfs frameshift NM_001407928.1:c.401delA NP_001394857.1:p.Glu134Aspfs frameshift NM_001407929.1:c.401delA NP_001394858.1:p.Glu134Aspfs frameshift NM_001407930.1:c.398delA NP_001394859.1:p.Glu133Aspfs frameshift NM_001407931.1:c.398delA NP_001394860.1:p.Glu133Aspfs frameshift NM_001407932.1:c.398delA NP_001394861.1:p.Glu133Aspfs frameshift NM_001407933.1:c.401delA NP_001394862.1:p.Glu134Aspfs frameshift NM_001407934.1:c.398delA NP_001394863.1:p.Glu133Aspfs frameshift NM_001407935.1:c.401delA NP_001394864.1:p.Glu134Aspfs frameshift NM_001407936.1:c.398delA NP_001394865.1:p.Glu133Aspfs frameshift NM_001407937.1:c.542delA NP_001394866.1:p.Glu181Aspfs frameshift NM_001407938.1:c.542delA NP_001394867.1:p.Glu181Aspfs frameshift NM_001407939.1:c.542delA NP_001394868.1:p.Glu181Aspfs frameshift NM_001407940.1:c.539delA NP_001394869.1:p.Glu180Aspfs frameshift NM_001407941.1:c.539delA NP_001394870.1:p.Glu180Aspfs frameshift NM_001407942.1:c.401delA NP_001394871.1:p.Glu134Aspfs frameshift NM_001407943.1:c.398delA NP_001394872.1:p.Glu133Aspfs frameshift NM_001407944.1:c.401delA NP_001394873.1:p.Glu134Aspfs frameshift NM_001407945.1:c.401delA NP_001394874.1:p.Glu134Aspfs frameshift NM_001407946.1:c.332delA NP_001394875.1:p.Glu111Aspfs frameshift NM_001407947.1:c.332delA NP_001394876.1:p.Glu111Aspfs frameshift NM_001407948.1:c.332delA NP_001394877.1:p.Glu111Aspfs frameshift NM_001407949.1:c.332delA NP_001394878.1:p.Glu111Aspfs frameshift NM_001407950.1:c.332delA NP_001394879.1:p.Glu111Aspfs frameshift NM_001407951.1:c.332delA NP_001394880.1:p.Glu111Aspfs frameshift NM_001407952.1:c.332delA NP_001394881.1:p.Glu111Aspfs frameshift NM_001407953.1:c.332delA NP_001394882.1:p.Glu111Aspfs frameshift NM_001407954.1:c.329delA NP_001394883.1:p.Glu110Aspfs frameshift NM_001407955.1:c.329delA NP_001394884.1:p.Glu110Aspfs frameshift NM_001407956.1:c.329delA NP_001394885.1:p.Glu110Aspfs frameshift NM_001407957.1:c.332delA NP_001394886.1:p.Glu111Aspfs frameshift NM_001407958.1:c.329delA NP_001394887.1:p.Glu110Aspfs frameshift NM_001407959.1:c.161delA NP_001394888.1:p.Glu54Aspfs frameshift NM_001407960.1:c.161delA NP_001394889.1:p.Glu54Aspfs frameshift NM_001407962.1:c.158delA NP_001394891.1:p.Glu53Aspfs frameshift NM_001407963.1:c.161delA NP_001394892.1:p.Glu54Aspfs frameshift NM_001407964.1:c.398delA NP_001394893.1:p.Glu133Aspfs frameshift NM_001407965.1:c.161delA NP_001394894.1:p.Glu54Aspfs frameshift NM_001407968.1:c.542delA NP_001394897.1:p.Glu181Aspfs frameshift NM_001407969.1:c.542delA NP_001394898.1:p.Glu181Aspfs frameshift NM_001407970.1:c.542delA NP_001394899.1:p.Glu181Aspfs frameshift NM_001407971.1:c.542delA NP_001394900.1:p.Glu181Aspfs frameshift NM_001407972.1:c.539delA NP_001394901.1:p.Glu180Aspfs frameshift NM_001407973.1:c.542delA NP_001394902.1:p.Glu181Aspfs frameshift NM_001407974.1:c.542delA NP_001394903.1:p.Glu181Aspfs frameshift NM_001407975.1:c.542delA NP_001394904.1:p.Glu181Aspfs frameshift NM_001407976.1:c.542delA NP_001394905.1:p.Glu181Aspfs frameshift NM_001407977.1:c.542delA NP_001394906.1:p.Glu181Aspfs frameshift NM_001407978.1:c.542delA NP_001394907.1:p.Glu181Aspfs frameshift NM_001407979.1:c.542delA NP_001394908.1:p.Glu181Aspfs frameshift NM_001407980.1:c.542delA NP_001394909.1:p.Glu181Aspfs frameshift NM_001407981.1:c.542delA NP_001394910.1:p.Glu181Aspfs frameshift NM_001407982.1:c.542delA NP_001394911.1:p.Glu181Aspfs frameshift NM_001407983.1:c.542delA NP_001394912.1:p.Glu181Aspfs frameshift NM_001407984.1:c.539delA NP_001394913.1:p.Glu180Aspfs frameshift NM_001407985.1:c.539delA NP_001394914.1:p.Glu180Aspfs frameshift NM_001407986.1:c.539delA NP_001394915.1:p.Glu180Aspfs frameshift NM_001407990.1:c.542delA NP_001394919.1:p.Glu181Aspfs frameshift NM_001407991.1:c.539delA NP_001394920.1:p.Glu180Aspfs frameshift NM_001407992.1:c.539delA NP_001394921.1:p.Glu180Aspfs frameshift NM_001407993.1:c.542delA NP_001394922.1:p.Glu181Aspfs frameshift NM_001408392.1:c.539delA NP_001395321.1:p.Glu180Aspfs frameshift NM_001408396.1:c.539delA NP_001395325.1:p.Glu180Aspfs frameshift NM_001408397.1:c.539delA NP_001395326.1:p.Glu180Aspfs frameshift NM_001408398.1:c.539delA NP_001395327.1:p.Glu180Aspfs frameshift NM_001408399.1:c.539delA NP_001395328.1:p.Glu180Aspfs frameshift NM_001408400.1:c.539delA NP_001395329.1:p.Glu180Aspfs frameshift NM_001408401.1:c.539delA NP_001395330.1:p.Glu180Aspfs frameshift NM_001408402.1:c.539delA NP_001395331.1:p.Glu180Aspfs frameshift NM_001408403.1:c.542delA NP_001395332.1:p.Glu181Aspfs frameshift NM_001408404.1:c.542delA NP_001395333.1:p.Glu181Aspfs frameshift NM_001408406.1:c.542delA NP_001395335.1:p.Glu181Aspfs frameshift NM_001408407.1:c.539delA NP_001395336.1:p.Glu180Aspfs frameshift NM_001408408.1:c.533delA NP_001395337.1:p.Glu178Aspfs frameshift NM_001408409.1:c.464delA NP_001395338.1:p.Glu155Aspfs frameshift NM_001408410.1:c.401delA NP_001395339.1:p.Glu134Aspfs frameshift NM_001408411.1:c.464delA NP_001395340.1:p.Glu155Aspfs frameshift NM_001408412.1:c.464delA NP_001395341.1:p.Glu155Aspfs frameshift NM_001408413.1:c.461delA NP_001395342.1:p.Glu154Aspfs frameshift NM_001408414.1:c.464delA NP_001395343.1:p.Glu155Aspfs frameshift NM_001408415.1:c.464delA NP_001395344.1:p.Glu155Aspfs frameshift NM_001408416.1:c.461delA NP_001395345.1:p.Glu154Aspfs frameshift NM_001408418.1:c.542delA NP_001395347.1:p.Glu181Aspfs frameshift NM_001408419.1:c.542delA NP_001395348.1:p.Glu181Aspfs frameshift NM_001408420.1:c.542delA NP_001395349.1:p.Glu181Aspfs frameshift NM_001408421.1:c.539delA NP_001395350.1:p.Glu180Aspfs frameshift NM_001408422.1:c.542delA NP_001395351.1:p.Glu181Aspfs frameshift NM_001408423.1:c.542delA NP_001395352.1:p.Glu181Aspfs frameshift NM_001408424.1:c.539delA NP_001395353.1:p.Glu180Aspfs frameshift NM_001408425.1:c.542delA NP_001395354.1:p.Glu181Aspfs frameshift NM_001408426.1:c.542delA NP_001395355.1:p.Glu181Aspfs frameshift NM_001408427.1:c.542delA NP_001395356.1:p.Glu181Aspfs frameshift NM_001408428.1:c.542delA NP_001395357.1:p.Glu181Aspfs frameshift NM_001408429.1:c.542delA NP_001395358.1:p.Glu181Aspfs frameshift NM_001408430.1:c.542delA NP_001395359.1:p.Glu181Aspfs frameshift NM_001408431.1:c.539delA NP_001395360.1:p.Glu180Aspfs frameshift NM_001408432.1:c.539delA NP_001395361.1:p.Glu180Aspfs frameshift NM_001408433.1:c.539delA NP_001395362.1:p.Glu180Aspfs frameshift NM_001408434.1:c.539delA NP_001395363.1:p.Glu180Aspfs frameshift NM_001408435.1:c.539delA NP_001395364.1:p.Glu180Aspfs frameshift NM_001408436.1:c.542delA NP_001395365.1:p.Glu181Aspfs frameshift NM_001408437.1:c.542delA NP_001395366.1:p.Glu181Aspfs frameshift NM_001408438.1:c.542delA NP_001395367.1:p.Glu181Aspfs frameshift NM_001408439.1:c.542delA NP_001395368.1:p.Glu181Aspfs frameshift NM_001408440.1:c.542delA NP_001395369.1:p.Glu181Aspfs frameshift NM_001408441.1:c.542delA NP_001395370.1:p.Glu181Aspfs frameshift NM_001408442.1:c.542delA NP_001395371.1:p.Glu181Aspfs frameshift NM_001408443.1:c.542delA NP_001395372.1:p.Glu181Aspfs frameshift NM_001408444.1:c.542delA NP_001395373.1:p.Glu181Aspfs frameshift NM_001408445.1:c.539delA NP_001395374.1:p.Glu180Aspfs frameshift NM_001408446.1:c.539delA NP_001395375.1:p.Glu180Aspfs frameshift NM_001408447.1:c.539delA NP_001395376.1:p.Glu180Aspfs frameshift NM_001408448.1:c.539delA NP_001395377.1:p.Glu180Aspfs frameshift NM_001408450.1:c.539delA NP_001395379.1:p.Glu180Aspfs frameshift NM_001408451.1:c.407delA NP_001395380.1:p.Glu136Aspfs frameshift NM_001408452.1:c.401delA NP_001395381.1:p.Glu134Aspfs frameshift NM_001408453.1:c.401delA NP_001395382.1:p.Glu134Aspfs frameshift NM_001408454.1:c.401delA NP_001395383.1:p.Glu134Aspfs frameshift NM_001408455.1:c.401delA NP_001395384.1:p.Glu134Aspfs frameshift NM_001408456.1:c.401delA NP_001395385.1:p.Glu134Aspfs frameshift NM_001408457.1:c.401delA NP_001395386.1:p.Glu134Aspfs frameshift NM_001408458.1:c.401delA NP_001395387.1:p.Glu134Aspfs frameshift NM_001408459.1:c.401delA NP_001395388.1:p.Glu134Aspfs frameshift NM_001408460.1:c.401delA NP_001395389.1:p.Glu134Aspfs frameshift NM_001408461.1:c.401delA NP_001395390.1:p.Glu134Aspfs frameshift NM_001408462.1:c.398delA NP_001395391.1:p.Glu133Aspfs frameshift NM_001408463.1:c.398delA NP_001395392.1:p.Glu133Aspfs frameshift NM_001408464.1:c.398delA NP_001395393.1:p.Glu133Aspfs frameshift NM_001408465.1:c.398delA NP_001395394.1:p.Glu133Aspfs frameshift NM_001408466.1:c.401delA NP_001395395.1:p.Glu134Aspfs frameshift NM_001408467.1:c.401delA NP_001395396.1:p.Glu134Aspfs frameshift NM_001408468.1:c.398delA NP_001395397.1:p.Glu133Aspfs frameshift NM_001408469.1:c.401delA NP_001395398.1:p.Glu134Aspfs frameshift NM_001408470.1:c.398delA NP_001395399.1:p.Glu133Aspfs frameshift NM_001408472.1:c.542delA NP_001395401.1:p.Glu181Aspfs frameshift NM_001408473.1:c.539delA NP_001395402.1:p.Glu180Aspfs frameshift NM_001408474.1:c.464delA NP_001395403.1:p.Glu155Aspfs frameshift NM_001408475.1:c.461delA NP_001395404.1:p.Glu154Aspfs frameshift NM_001408476.1:c.464delA NP_001395405.1:p.Glu155Aspfs frameshift NM_001408478.1:c.332delA NP_001395407.1:p.Glu111Aspfs frameshift NM_001408479.1:c.332delA NP_001395408.1:p.Glu111Aspfs frameshift NM_001408480.1:c.332delA NP_001395409.1:p.Glu111Aspfs frameshift NM_001408481.1:c.332delA NP_001395410.1:p.Glu111Aspfs frameshift NM_001408482.1:c.332delA NP_001395411.1:p.Glu111Aspfs frameshift NM_001408483.1:c.332delA NP_001395412.1:p.Glu111Aspfs frameshift NM_001408484.1:c.332delA NP_001395413.1:p.Glu111Aspfs frameshift NM_001408485.1:c.332delA NP_001395414.1:p.Glu111Aspfs frameshift NM_001408489.1:c.332delA NP_001395418.1:p.Glu111Aspfs frameshift NM_001408490.1:c.329delA NP_001395419.1:p.Glu110Aspfs frameshift NM_001408491.1:c.329delA NP_001395420.1:p.Glu110Aspfs frameshift NM_001408492.1:c.332delA NP_001395421.1:p.Glu111Aspfs frameshift NM_001408493.1:c.329delA NP_001395422.1:p.Glu110Aspfs frameshift NM_001408494.1:c.542delA NP_001395423.1:p.Glu181Aspfs frameshift NM_001408495.1:c.539delA NP_001395424.1:p.Glu180Aspfs frameshift NM_001408496.1:c.401delA NP_001395425.1:p.Glu134Aspfs frameshift NM_001408497.1:c.401delA NP_001395426.1:p.Glu134Aspfs frameshift NM_001408498.1:c.401delA NP_001395427.1:p.Glu134Aspfs frameshift NM_001408499.1:c.401delA NP_001395428.1:p.Glu134Aspfs frameshift NM_001408500.1:c.401delA NP_001395429.1:p.Glu134Aspfs frameshift NM_001408501.1:c.401delA NP_001395430.1:p.Glu134Aspfs frameshift NM_001408502.1:c.332delA NP_001395431.1:p.Glu111Aspfs frameshift NM_001408503.1:c.398delA NP_001395432.1:p.Glu133Aspfs frameshift NM_001408504.1:c.398delA NP_001395433.1:p.Glu133Aspfs frameshift NM_001408505.1:c.398delA NP_001395434.1:p.Glu133Aspfs frameshift NM_001408506.1:c.332delA NP_001395435.1:p.Glu111Aspfs frameshift NM_001408507.1:c.332delA NP_001395436.1:p.Glu111Aspfs frameshift NM_001408508.1:c.329delA NP_001395437.1:p.Glu110Aspfs frameshift NM_001408509.1:c.329delA NP_001395438.1:p.Glu110Aspfs frameshift NM_001408510.1:c.161delA NP_001395439.1:p.Glu54Aspfs frameshift NM_001408511.1:c.398delA NP_001395440.1:p.Glu133Aspfs frameshift NM_001408512.1:c.161delA NP_001395441.1:p.Glu54Aspfs frameshift NM_001408513.1:c.332delA NP_001395442.1:p.Glu111Aspfs frameshift NM_001408514.1:c.332delA NP_001395443.1:p.Glu111Aspfs frameshift NM_007297.4:c.402del NP_009228.2:p.Glu134fs frameshift NM_007298.4:c.542delA NP_009229.2:p.Glu181Aspfs frameshift NM_007299.4:c.543del NP_009230.2:p.Glu181fs frameshift NM_007300.4:c.543del NP_009231.2:p.Glu181fs frameshift NM_007304.2:c.542delA NP_009235.2:p.Glu181Aspfs frameshift NR_027676.2:n.720del non-coding transcript variant NC_000017.11:g.43099780del NC_000017.10:g.41251797del NG_005905.2:g.118205del LRG_292:g.118205del LRG_292t1:c.542del LRG_292p1:p.Glu181Aspfs - Protein change
- E134fs, E181fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43099778:TT:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- 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 |
12943 | 14735 |
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 (1) |
criteria provided, single submitter
|
Sep 3, 2021 | RCV002290286.2 |
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. |
|
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Pathogenic
(Sep 03, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
MGZ Medical Genetics Center
Accession: SCV002580244.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PVS1, PM2_SUP, PP4
|
Number of individuals with the variant: 1
Sex: female
|
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 May 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.