ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3058C>G (p.Pro1020Ala)
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.
Uncertain significance(1); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3058C>G (p.Pro1020Ala)
Variation ID: 2006887 Accession: VCV002006887.4
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092473 (GRCh38) [ NCBI UCSC ] 17: 41244490 (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 Feb 8, 2023 Feb 20, 2024 Mar 23, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3058C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro1020Ala missense NM_001407571.1:c.2845C>G NP_001394500.1:p.Pro949Ala missense NM_001407581.1:c.3058C>G NP_001394510.1:p.Pro1020Ala missense NM_001407582.1:c.3058C>G NP_001394511.1:p.Pro1020Ala missense NM_001407583.1:c.3058C>G NP_001394512.1:p.Pro1020Ala missense NM_001407585.1:c.3058C>G NP_001394514.1:p.Pro1020Ala missense NM_001407587.1:c.3055C>G NP_001394516.1:p.Pro1019Ala missense NM_001407590.1:c.3055C>G NP_001394519.1:p.Pro1019Ala missense NM_001407591.1:c.3055C>G NP_001394520.1:p.Pro1019Ala missense NM_001407593.1:c.3058C>G NP_001394522.1:p.Pro1020Ala missense NM_001407594.1:c.3058C>G NP_001394523.1:p.Pro1020Ala missense NM_001407596.1:c.3058C>G NP_001394525.1:p.Pro1020Ala missense NM_001407597.1:c.3058C>G NP_001394526.1:p.Pro1020Ala missense NM_001407598.1:c.3058C>G NP_001394527.1:p.Pro1020Ala missense NM_001407602.1:c.3058C>G NP_001394531.1:p.Pro1020Ala missense NM_001407603.1:c.3058C>G NP_001394532.1:p.Pro1020Ala missense NM_001407605.1:c.3058C>G NP_001394534.1:p.Pro1020Ala missense NM_001407610.1:c.3055C>G NP_001394539.1:p.Pro1019Ala missense NM_001407611.1:c.3055C>G NP_001394540.1:p.Pro1019Ala missense NM_001407612.1:c.3055C>G NP_001394541.1:p.Pro1019Ala missense NM_001407613.1:c.3055C>G NP_001394542.1:p.Pro1019Ala missense NM_001407614.1:c.3055C>G NP_001394543.1:p.Pro1019Ala missense NM_001407615.1:c.3055C>G NP_001394544.1:p.Pro1019Ala missense NM_001407616.1:c.3058C>G NP_001394545.1:p.Pro1020Ala missense NM_001407617.1:c.3058C>G NP_001394546.1:p.Pro1020Ala missense NM_001407618.1:c.3058C>G NP_001394547.1:p.Pro1020Ala missense NM_001407619.1:c.3058C>G NP_001394548.1:p.Pro1020Ala missense NM_001407620.1:c.3058C>G NP_001394549.1:p.Pro1020Ala missense NM_001407621.1:c.3058C>G NP_001394550.1:p.Pro1020Ala missense NM_001407622.1:c.3058C>G NP_001394551.1:p.Pro1020Ala missense NM_001407623.1:c.3058C>G NP_001394552.1:p.Pro1020Ala missense NM_001407624.1:c.3058C>G NP_001394553.1:p.Pro1020Ala missense NM_001407625.1:c.3058C>G NP_001394554.1:p.Pro1020Ala missense NM_001407626.1:c.3058C>G NP_001394555.1:p.Pro1020Ala missense NM_001407627.1:c.3055C>G NP_001394556.1:p.Pro1019Ala missense NM_001407628.1:c.3055C>G NP_001394557.1:p.Pro1019Ala missense NM_001407629.1:c.3055C>G NP_001394558.1:p.Pro1019Ala missense NM_001407630.1:c.3055C>G NP_001394559.1:p.Pro1019Ala missense NM_001407631.1:c.3055C>G NP_001394560.1:p.Pro1019Ala missense NM_001407632.1:c.3055C>G NP_001394561.1:p.Pro1019Ala missense NM_001407633.1:c.3055C>G NP_001394562.1:p.Pro1019Ala missense NM_001407634.1:c.3055C>G NP_001394563.1:p.Pro1019Ala missense NM_001407635.1:c.3055C>G NP_001394564.1:p.Pro1019Ala missense NM_001407636.1:c.3055C>G NP_001394565.1:p.Pro1019Ala missense NM_001407637.1:c.3055C>G NP_001394566.1:p.Pro1019Ala missense NM_001407638.1:c.3055C>G NP_001394567.1:p.Pro1019Ala missense NM_001407639.1:c.3058C>G NP_001394568.1:p.Pro1020Ala missense NM_001407640.1:c.3058C>G NP_001394569.1:p.Pro1020Ala missense NM_001407641.1:c.3058C>G NP_001394570.1:p.Pro1020Ala missense NM_001407642.1:c.3058C>G NP_001394571.1:p.Pro1020Ala missense NM_001407644.1:c.3055C>G NP_001394573.1:p.Pro1019Ala missense NM_001407645.1:c.3055C>G NP_001394574.1:p.Pro1019Ala missense NM_001407646.1:c.3049C>G NP_001394575.1:p.Pro1017Ala missense NM_001407647.1:c.3049C>G NP_001394576.1:p.Pro1017Ala missense NM_001407648.1:c.2935C>G NP_001394577.1:p.Pro979Ala missense NM_001407649.1:c.2932C>G NP_001394578.1:p.Pro978Ala missense NM_001407652.1:c.3058C>G NP_001394581.1:p.Pro1020Ala missense NM_001407653.1:c.2980C>G NP_001394582.1:p.Pro994Ala missense NM_001407654.1:c.2980C>G NP_001394583.1:p.Pro994Ala missense NM_001407655.1:c.2980C>G NP_001394584.1:p.Pro994Ala missense NM_001407656.1:c.2980C>G NP_001394585.1:p.Pro994Ala missense NM_001407657.1:c.2980C>G NP_001394586.1:p.Pro994Ala missense NM_001407658.1:c.2980C>G NP_001394587.1:p.Pro994Ala missense NM_001407659.1:c.2977C>G NP_001394588.1:p.Pro993Ala missense NM_001407660.1:c.2977C>G NP_001394589.1:p.Pro993Ala missense NM_001407661.1:c.2977C>G NP_001394590.1:p.Pro993Ala missense NM_001407662.1:c.2977C>G NP_001394591.1:p.Pro993Ala missense NM_001407663.1:c.2980C>G NP_001394592.1:p.Pro994Ala missense NM_001407664.1:c.2935C>G NP_001394593.1:p.Pro979Ala missense NM_001407665.1:c.2935C>G NP_001394594.1:p.Pro979Ala missense NM_001407666.1:c.2935C>G NP_001394595.1:p.Pro979Ala missense NM_001407667.1:c.2935C>G NP_001394596.1:p.Pro979Ala missense NM_001407668.1:c.2935C>G NP_001394597.1:p.Pro979Ala missense NM_001407669.1:c.2935C>G NP_001394598.1:p.Pro979Ala missense NM_001407670.1:c.2932C>G NP_001394599.1:p.Pro978Ala missense NM_001407671.1:c.2932C>G NP_001394600.1:p.Pro978Ala missense NM_001407672.1:c.2932C>G NP_001394601.1:p.Pro978Ala missense NM_001407673.1:c.2932C>G NP_001394602.1:p.Pro978Ala missense NM_001407674.1:c.2935C>G NP_001394603.1:p.Pro979Ala missense NM_001407675.1:c.2935C>G NP_001394604.1:p.Pro979Ala missense NM_001407676.1:c.2935C>G NP_001394605.1:p.Pro979Ala missense NM_001407677.1:c.2935C>G NP_001394606.1:p.Pro979Ala missense NM_001407678.1:c.2935C>G NP_001394607.1:p.Pro979Ala missense NM_001407679.1:c.2935C>G NP_001394608.1:p.Pro979Ala missense NM_001407680.1:c.2935C>G NP_001394609.1:p.Pro979Ala missense NM_001407681.1:c.2935C>G NP_001394610.1:p.Pro979Ala missense NM_001407682.1:c.2935C>G NP_001394611.1:p.Pro979Ala missense NM_001407683.1:c.2935C>G NP_001394612.1:p.Pro979Ala missense NM_001407684.1:c.3058C>G NP_001394613.1:p.Pro1020Ala missense NM_001407685.1:c.2932C>G NP_001394614.1:p.Pro978Ala missense NM_001407686.1:c.2932C>G NP_001394615.1:p.Pro978Ala missense NM_001407687.1:c.2932C>G NP_001394616.1:p.Pro978Ala missense NM_001407688.1:c.2932C>G NP_001394617.1:p.Pro978Ala missense NM_001407689.1:c.2932C>G NP_001394618.1:p.Pro978Ala missense NM_001407690.1:c.2932C>G NP_001394619.1:p.Pro978Ala missense NM_001407691.1:c.2932C>G NP_001394620.1:p.Pro978Ala missense NM_001407692.1:c.2917C>G NP_001394621.1:p.Pro973Ala missense NM_001407694.1:c.2917C>G NP_001394623.1:p.Pro973Ala missense NM_001407695.1:c.2917C>G NP_001394624.1:p.Pro973Ala missense NM_001407696.1:c.2917C>G NP_001394625.1:p.Pro973Ala missense NM_001407697.1:c.2917C>G NP_001394626.1:p.Pro973Ala missense NM_001407698.1:c.2917C>G NP_001394627.1:p.Pro973Ala missense NM_001407724.1:c.2917C>G NP_001394653.1:p.Pro973Ala missense NM_001407725.1:c.2917C>G NP_001394654.1:p.Pro973Ala missense NM_001407726.1:c.2917C>G NP_001394655.1:p.Pro973Ala missense NM_001407727.1:c.2917C>G NP_001394656.1:p.Pro973Ala missense NM_001407728.1:c.2917C>G NP_001394657.1:p.Pro973Ala missense NM_001407729.1:c.2917C>G NP_001394658.1:p.Pro973Ala missense NM_001407730.1:c.2917C>G NP_001394659.1:p.Pro973Ala missense NM_001407731.1:c.2917C>G NP_001394660.1:p.Pro973Ala missense NM_001407732.1:c.2917C>G NP_001394661.1:p.Pro973Ala missense NM_001407733.1:c.2917C>G NP_001394662.1:p.Pro973Ala missense NM_001407734.1:c.2917C>G NP_001394663.1:p.Pro973Ala missense NM_001407735.1:c.2917C>G NP_001394664.1:p.Pro973Ala missense NM_001407736.1:c.2917C>G NP_001394665.1:p.Pro973Ala missense NM_001407737.1:c.2917C>G NP_001394666.1:p.Pro973Ala missense NM_001407738.1:c.2917C>G NP_001394667.1:p.Pro973Ala missense NM_001407739.1:c.2917C>G NP_001394668.1:p.Pro973Ala missense NM_001407740.1:c.2914C>G NP_001394669.1:p.Pro972Ala missense NM_001407741.1:c.2914C>G NP_001394670.1:p.Pro972Ala missense NM_001407742.1:c.2914C>G NP_001394671.1:p.Pro972Ala missense NM_001407743.1:c.2914C>G NP_001394672.1:p.Pro972Ala missense NM_001407744.1:c.2914C>G NP_001394673.1:p.Pro972Ala missense NM_001407745.1:c.2914C>G NP_001394674.1:p.Pro972Ala missense NM_001407746.1:c.2914C>G NP_001394675.1:p.Pro972Ala missense NM_001407747.1:c.2914C>G NP_001394676.1:p.Pro972Ala missense NM_001407748.1:c.2914C>G NP_001394677.1:p.Pro972Ala missense NM_001407749.1:c.2914C>G NP_001394678.1:p.Pro972Ala missense NM_001407750.1:c.2917C>G NP_001394679.1:p.Pro973Ala missense NM_001407751.1:c.2917C>G NP_001394680.1:p.Pro973Ala missense NM_001407752.1:c.2917C>G NP_001394681.1:p.Pro973Ala missense NM_001407838.1:c.2914C>G NP_001394767.1:p.Pro972Ala missense NM_001407839.1:c.2914C>G NP_001394768.1:p.Pro972Ala missense NM_001407841.1:c.2914C>G NP_001394770.1:p.Pro972Ala missense NM_001407842.1:c.2914C>G NP_001394771.1:p.Pro972Ala missense NM_001407843.1:c.2914C>G NP_001394772.1:p.Pro972Ala missense NM_001407844.1:c.2914C>G NP_001394773.1:p.Pro972Ala missense NM_001407845.1:c.2914C>G NP_001394774.1:p.Pro972Ala missense NM_001407846.1:c.2914C>G NP_001394775.1:p.Pro972Ala missense NM_001407847.1:c.2914C>G NP_001394776.1:p.Pro972Ala missense NM_001407848.1:c.2914C>G NP_001394777.1:p.Pro972Ala missense NM_001407849.1:c.2914C>G NP_001394778.1:p.Pro972Ala missense NM_001407850.1:c.2917C>G NP_001394779.1:p.Pro973Ala missense NM_001407851.1:c.2917C>G NP_001394780.1:p.Pro973Ala missense NM_001407852.1:c.2917C>G NP_001394781.1:p.Pro973Ala missense NM_001407853.1:c.2845C>G NP_001394782.1:p.Pro949Ala missense NM_001407854.1:c.3058C>G NP_001394783.1:p.Pro1020Ala missense NM_001407858.1:c.3058C>G NP_001394787.1:p.Pro1020Ala missense NM_001407859.1:c.3058C>G NP_001394788.1:p.Pro1020Ala missense NM_001407860.1:c.3055C>G NP_001394789.1:p.Pro1019Ala missense NM_001407861.1:c.3055C>G NP_001394790.1:p.Pro1019Ala missense NM_001407862.1:c.2857C>G NP_001394791.1:p.Pro953Ala missense NM_001407863.1:c.2935C>G NP_001394792.1:p.Pro979Ala missense NM_001407874.1:c.2854C>G NP_001394803.1:p.Pro952Ala missense NM_001407875.1:c.2854C>G NP_001394804.1:p.Pro952Ala missense NM_001407879.1:c.2848C>G NP_001394808.1:p.Pro950Ala missense NM_001407881.1:c.2848C>G NP_001394810.1:p.Pro950Ala missense NM_001407882.1:c.2848C>G NP_001394811.1:p.Pro950Ala missense NM_001407884.1:c.2848C>G NP_001394813.1:p.Pro950Ala missense NM_001407885.1:c.2848C>G NP_001394814.1:p.Pro950Ala missense NM_001407886.1:c.2848C>G NP_001394815.1:p.Pro950Ala missense NM_001407887.1:c.2848C>G NP_001394816.1:p.Pro950Ala missense NM_001407889.1:c.2848C>G NP_001394818.1:p.Pro950Ala missense NM_001407894.1:c.2845C>G NP_001394823.1:p.Pro949Ala missense NM_001407895.1:c.2845C>G NP_001394824.1:p.Pro949Ala missense NM_001407896.1:c.2845C>G NP_001394825.1:p.Pro949Ala missense NM_001407897.1:c.2845C>G NP_001394826.1:p.Pro949Ala missense NM_001407898.1:c.2845C>G NP_001394827.1:p.Pro949Ala missense NM_001407899.1:c.2845C>G NP_001394828.1:p.Pro949Ala missense NM_001407900.1:c.2848C>G NP_001394829.1:p.Pro950Ala missense NM_001407902.1:c.2848C>G NP_001394831.1:p.Pro950Ala missense NM_001407904.1:c.2848C>G NP_001394833.1:p.Pro950Ala missense NM_001407906.1:c.2848C>G NP_001394835.1:p.Pro950Ala missense NM_001407907.1:c.2848C>G NP_001394836.1:p.Pro950Ala missense NM_001407908.1:c.2848C>G NP_001394837.1:p.Pro950Ala missense NM_001407909.1:c.2848C>G NP_001394838.1:p.Pro950Ala missense NM_001407910.1:c.2848C>G NP_001394839.1:p.Pro950Ala missense NM_001407915.1:c.2845C>G NP_001394844.1:p.Pro949Ala missense NM_001407916.1:c.2845C>G NP_001394845.1:p.Pro949Ala missense NM_001407917.1:c.2845C>G NP_001394846.1:p.Pro949Ala missense NM_001407918.1:c.2845C>G NP_001394847.1:p.Pro949Ala missense NM_001407919.1:c.2935C>G NP_001394848.1:p.Pro979Ala missense NM_001407920.1:c.2794C>G NP_001394849.1:p.Pro932Ala missense NM_001407921.1:c.2794C>G NP_001394850.1:p.Pro932Ala missense NM_001407922.1:c.2794C>G NP_001394851.1:p.Pro932Ala missense NM_001407923.1:c.2794C>G NP_001394852.1:p.Pro932Ala missense NM_001407924.1:c.2794C>G NP_001394853.1:p.Pro932Ala missense NM_001407925.1:c.2794C>G NP_001394854.1:p.Pro932Ala missense NM_001407926.1:c.2794C>G NP_001394855.1:p.Pro932Ala missense NM_001407927.1:c.2794C>G NP_001394856.1:p.Pro932Ala missense NM_001407928.1:c.2794C>G NP_001394857.1:p.Pro932Ala missense NM_001407929.1:c.2794C>G NP_001394858.1:p.Pro932Ala missense NM_001407930.1:c.2791C>G NP_001394859.1:p.Pro931Ala missense NM_001407931.1:c.2791C>G NP_001394860.1:p.Pro931Ala missense NM_001407932.1:c.2791C>G NP_001394861.1:p.Pro931Ala missense NM_001407933.1:c.2794C>G NP_001394862.1:p.Pro932Ala missense NM_001407934.1:c.2791C>G NP_001394863.1:p.Pro931Ala missense NM_001407935.1:c.2794C>G NP_001394864.1:p.Pro932Ala missense NM_001407936.1:c.2791C>G NP_001394865.1:p.Pro931Ala missense NM_001407937.1:c.2935C>G NP_001394866.1:p.Pro979Ala missense NM_001407938.1:c.2935C>G NP_001394867.1:p.Pro979Ala missense NM_001407939.1:c.2935C>G NP_001394868.1:p.Pro979Ala missense NM_001407940.1:c.2932C>G NP_001394869.1:p.Pro978Ala missense NM_001407941.1:c.2932C>G NP_001394870.1:p.Pro978Ala missense NM_001407942.1:c.2917C>G NP_001394871.1:p.Pro973Ala missense NM_001407943.1:c.2914C>G NP_001394872.1:p.Pro972Ala missense NM_001407944.1:c.2917C>G NP_001394873.1:p.Pro973Ala missense NM_001407945.1:c.2917C>G NP_001394874.1:p.Pro973Ala missense NM_001407946.1:c.2725C>G NP_001394875.1:p.Pro909Ala missense NM_001407947.1:c.2725C>G NP_001394876.1:p.Pro909Ala missense NM_001407948.1:c.2725C>G NP_001394877.1:p.Pro909Ala missense NM_001407949.1:c.2725C>G NP_001394878.1:p.Pro909Ala missense NM_001407950.1:c.2725C>G NP_001394879.1:p.Pro909Ala missense NM_001407951.1:c.2725C>G NP_001394880.1:p.Pro909Ala missense NM_001407952.1:c.2725C>G NP_001394881.1:p.Pro909Ala missense NM_001407953.1:c.2725C>G NP_001394882.1:p.Pro909Ala missense NM_001407954.1:c.2722C>G NP_001394883.1:p.Pro908Ala missense NM_001407955.1:c.2722C>G NP_001394884.1:p.Pro908Ala missense NM_001407956.1:c.2722C>G NP_001394885.1:p.Pro908Ala missense NM_001407957.1:c.2725C>G NP_001394886.1:p.Pro909Ala missense NM_001407958.1:c.2722C>G NP_001394887.1:p.Pro908Ala missense NM_001407959.1:c.2677C>G NP_001394888.1:p.Pro893Ala missense NM_001407960.1:c.2677C>G NP_001394889.1:p.Pro893Ala missense NM_001407962.1:c.2674C>G NP_001394891.1:p.Pro892Ala missense NM_001407963.1:c.2677C>G NP_001394892.1:p.Pro893Ala missense NM_001407964.1:c.2914C>G NP_001394893.1:p.Pro972Ala missense NM_001407965.1:c.2554C>G NP_001394894.1:p.Pro852Ala missense NM_001407966.1:c.2170C>G NP_001394895.1:p.Pro724Ala missense NM_001407967.1:c.2170C>G NP_001394896.1:p.Pro724Ala missense NM_001407968.1:c.788-334C>G intron variant NM_001407969.1:c.788-334C>G intron variant NM_001407970.1:c.788-1441C>G intron variant NM_001407971.1:c.788-1441C>G intron variant NM_001407972.1:c.785-1441C>G intron variant NM_001407973.1:c.788-1441C>G intron variant NM_001407974.1:c.788-1441C>G intron variant NM_001407975.1:c.788-1441C>G intron variant NM_001407976.1:c.788-1441C>G intron variant NM_001407977.1:c.788-1441C>G intron variant NM_001407978.1:c.788-1441C>G intron variant NM_001407979.1:c.788-1441C>G intron variant NM_001407980.1:c.788-1441C>G intron variant NM_001407981.1:c.788-1441C>G intron variant NM_001407982.1:c.788-1441C>G intron variant NM_001407983.1:c.788-1441C>G intron variant NM_001407984.1:c.785-1441C>G intron variant NM_001407985.1:c.785-1441C>G intron variant NM_001407986.1:c.785-1441C>G intron variant NM_001407990.1:c.788-1441C>G intron variant NM_001407991.1:c.785-1441C>G intron variant NM_001407992.1:c.785-1441C>G intron variant NM_001407993.1:c.788-1441C>G intron variant NM_001408392.1:c.785-1441C>G intron variant NM_001408396.1:c.785-1441C>G intron variant NM_001408397.1:c.785-1441C>G intron variant NM_001408398.1:c.785-1441C>G intron variant NM_001408399.1:c.785-1441C>G intron variant NM_001408400.1:c.785-1441C>G intron variant NM_001408401.1:c.785-1441C>G intron variant NM_001408402.1:c.785-1441C>G intron variant NM_001408403.1:c.788-1441C>G intron variant NM_001408404.1:c.788-1441C>G intron variant NM_001408406.1:c.791-1450C>G intron variant NM_001408407.1:c.785-1441C>G intron variant NM_001408408.1:c.779-1441C>G intron variant NM_001408409.1:c.710-1441C>G intron variant NM_001408410.1:c.647-1441C>G intron variant NM_001408411.1:c.710-1441C>G intron variant NM_001408412.1:c.710-1441C>G intron variant NM_001408413.1:c.707-1441C>G intron variant NM_001408414.1:c.710-1441C>G intron variant NM_001408415.1:c.710-1441C>G intron variant NM_001408416.1:c.707-1441C>G intron variant NM_001408418.1:c.671-1441C>G intron variant NM_001408419.1:c.671-1441C>G intron variant NM_001408420.1:c.671-1441C>G intron variant NM_001408421.1:c.668-1441C>G intron variant NM_001408422.1:c.671-1441C>G intron variant NM_001408423.1:c.671-1441C>G intron variant NM_001408424.1:c.668-1441C>G intron variant NM_001408425.1:c.665-1441C>G intron variant NM_001408426.1:c.665-1441C>G intron variant NM_001408427.1:c.665-1441C>G intron variant NM_001408428.1:c.665-1441C>G intron variant NM_001408429.1:c.665-1441C>G intron variant NM_001408430.1:c.665-1441C>G intron variant NM_001408431.1:c.668-1441C>G intron variant NM_001408432.1:c.662-1441C>G intron variant NM_001408433.1:c.662-1441C>G intron variant NM_001408434.1:c.662-1441C>G intron variant NM_001408435.1:c.662-1441C>G intron variant NM_001408436.1:c.665-1441C>G intron variant NM_001408437.1:c.665-1441C>G intron variant NM_001408438.1:c.665-1441C>G intron variant NM_001408439.1:c.665-1441C>G intron variant NM_001408440.1:c.665-1441C>G intron variant NM_001408441.1:c.665-1441C>G intron variant NM_001408442.1:c.665-1441C>G intron variant NM_001408443.1:c.665-1441C>G intron variant NM_001408444.1:c.665-1441C>G intron variant NM_001408445.1:c.662-1441C>G intron variant NM_001408446.1:c.662-1441C>G intron variant NM_001408447.1:c.662-1441C>G intron variant NM_001408448.1:c.662-1441C>G intron variant NM_001408450.1:c.662-1441C>G intron variant NM_001408451.1:c.653-1441C>G intron variant NM_001408452.1:c.647-1441C>G intron variant NM_001408453.1:c.647-1441C>G intron variant NM_001408454.1:c.647-1441C>G intron variant NM_001408455.1:c.647-1441C>G intron variant NM_001408456.1:c.647-1441C>G intron variant NM_001408457.1:c.647-1441C>G intron variant NM_001408458.1:c.647-1441C>G intron variant NM_001408459.1:c.647-1441C>G intron variant NM_001408460.1:c.647-1441C>G intron variant NM_001408461.1:c.647-1441C>G intron variant NM_001408462.1:c.644-1441C>G intron variant NM_001408463.1:c.644-1441C>G intron variant NM_001408464.1:c.644-1441C>G intron variant NM_001408465.1:c.644-1441C>G intron variant NM_001408466.1:c.647-1441C>G intron variant NM_001408467.1:c.647-1441C>G intron variant NM_001408468.1:c.644-1441C>G intron variant NM_001408469.1:c.647-1441C>G intron variant NM_001408470.1:c.644-1441C>G intron variant NM_001408472.1:c.788-1441C>G intron variant NM_001408473.1:c.785-1441C>G intron variant NM_001408474.1:c.587-1441C>G intron variant NM_001408475.1:c.584-1441C>G intron variant NM_001408476.1:c.587-1441C>G intron variant NM_001408478.1:c.578-1441C>G intron variant NM_001408479.1:c.578-1441C>G intron variant NM_001408480.1:c.578-1441C>G intron variant NM_001408481.1:c.578-1441C>G intron variant NM_001408482.1:c.578-1441C>G intron variant NM_001408483.1:c.578-1441C>G intron variant NM_001408484.1:c.578-1441C>G intron variant NM_001408485.1:c.578-1441C>G intron variant NM_001408489.1:c.578-1441C>G intron variant NM_001408490.1:c.575-1441C>G intron variant NM_001408491.1:c.575-1441C>G intron variant NM_001408492.1:c.578-1441C>G intron variant NM_001408493.1:c.575-1441C>G intron variant NM_001408494.1:c.548-1441C>G intron variant NM_001408495.1:c.545-1441C>G intron variant NM_001408496.1:c.524-1441C>G intron variant NM_001408497.1:c.524-1441C>G intron variant NM_001408498.1:c.524-1441C>G intron variant NM_001408499.1:c.524-1441C>G intron variant NM_001408500.1:c.524-1441C>G intron variant NM_001408501.1:c.524-1441C>G intron variant NM_001408502.1:c.455-1441C>G intron variant NM_001408503.1:c.521-1441C>G intron variant NM_001408504.1:c.521-1441C>G intron variant NM_001408505.1:c.521-1441C>G intron variant NM_001408506.1:c.461-1441C>G intron variant NM_001408507.1:c.461-1441C>G intron variant NM_001408508.1:c.452-1441C>G intron variant NM_001408509.1:c.452-1441C>G intron variant NM_001408510.1:c.407-1441C>G intron variant NM_001408511.1:c.404-1441C>G intron variant NM_001408512.1:c.284-1441C>G intron variant NM_001408513.1:c.578-1441C>G intron variant NM_001408514.1:c.578-1441C>G intron variant NM_007297.4:c.2917C>G NP_009228.2:p.Pro973Ala missense NM_007298.4:c.788-1441C>G intron variant NM_007299.4:c.788-1441C>G intron variant NM_007300.4:c.3058C>G NP_009231.2:p.Pro1020Ala missense NR_027676.1:n.3194C>G NC_000017.11:g.43092473G>C NC_000017.10:g.41244490G>C NG_005905.2:g.125511C>G LRG_292:g.125511C>G LRG_292t1:c.3058C>G LRG_292p1:p.Pro1020Ala - Protein change
- P1019A, P950A, P953A, P978A, P993A, P1020A, P724A, P949A, P892A, P909A, P931A, P932A, P952A, P973A, P979A, P1017A, P852A, P893A, P908A, P972A, P994A
- Other names
- -
- Canonical SPDI
- NC_000017.11:43092472:G:C
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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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- 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. |
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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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Uncertain significance (1) |
criteria provided, single submitter
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Jun 15, 2022 | RCV002837971.2 | |
Likely benign (1) |
criteria provided, single submitter
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Mar 23, 2023 | RCV003157269.3 |
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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Uncertain significance
(Jun 15, 2022)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV003208689.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1020 of the BRCA1 protein (p.Pro1020Ala). (less)
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Likely benign
(Mar 23, 2023)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003849156.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
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Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
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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
HelpTitle | Author | Journal | Year | Link |
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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
Text-mined citations for this variant ...
HelpRecord last updated Jul 15, 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.