ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2420C>A (p.Ala807Glu)
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(2); 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.2420C>A (p.Ala807Glu)
Variation ID: 54566 Accession: VCV000054566.15
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093111 (GRCh38) [ NCBI UCSC ] 17: 41245128 (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 Apr 1, 2014 May 1, 2024 Mar 23, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2420C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ala807Glu missense NM_001407571.1:c.2207C>A NP_001394500.1:p.Ala736Glu missense NM_001407581.1:c.2420C>A NP_001394510.1:p.Ala807Glu missense NM_001407582.1:c.2420C>A NP_001394511.1:p.Ala807Glu missense NM_001407583.1:c.2420C>A NP_001394512.1:p.Ala807Glu missense NM_001407585.1:c.2420C>A NP_001394514.1:p.Ala807Glu missense NM_001407587.1:c.2417C>A NP_001394516.1:p.Ala806Glu missense NM_001407590.1:c.2417C>A NP_001394519.1:p.Ala806Glu missense NM_001407591.1:c.2417C>A NP_001394520.1:p.Ala806Glu missense NM_001407593.1:c.2420C>A NP_001394522.1:p.Ala807Glu missense NM_001407594.1:c.2420C>A NP_001394523.1:p.Ala807Glu missense NM_001407596.1:c.2420C>A NP_001394525.1:p.Ala807Glu missense NM_001407597.1:c.2420C>A NP_001394526.1:p.Ala807Glu missense NM_001407598.1:c.2420C>A NP_001394527.1:p.Ala807Glu missense NM_001407602.1:c.2420C>A NP_001394531.1:p.Ala807Glu missense NM_001407603.1:c.2420C>A NP_001394532.1:p.Ala807Glu missense NM_001407605.1:c.2420C>A NP_001394534.1:p.Ala807Glu missense NM_001407610.1:c.2417C>A NP_001394539.1:p.Ala806Glu missense NM_001407611.1:c.2417C>A NP_001394540.1:p.Ala806Glu missense NM_001407612.1:c.2417C>A NP_001394541.1:p.Ala806Glu missense NM_001407613.1:c.2417C>A NP_001394542.1:p.Ala806Glu missense NM_001407614.1:c.2417C>A NP_001394543.1:p.Ala806Glu missense NM_001407615.1:c.2417C>A NP_001394544.1:p.Ala806Glu missense NM_001407616.1:c.2420C>A NP_001394545.1:p.Ala807Glu missense NM_001407617.1:c.2420C>A NP_001394546.1:p.Ala807Glu missense NM_001407618.1:c.2420C>A NP_001394547.1:p.Ala807Glu missense NM_001407619.1:c.2420C>A NP_001394548.1:p.Ala807Glu missense NM_001407620.1:c.2420C>A NP_001394549.1:p.Ala807Glu missense NM_001407621.1:c.2420C>A NP_001394550.1:p.Ala807Glu missense NM_001407622.1:c.2420C>A NP_001394551.1:p.Ala807Glu missense NM_001407623.1:c.2420C>A NP_001394552.1:p.Ala807Glu missense NM_001407624.1:c.2420C>A NP_001394553.1:p.Ala807Glu missense NM_001407625.1:c.2420C>A NP_001394554.1:p.Ala807Glu missense NM_001407626.1:c.2420C>A NP_001394555.1:p.Ala807Glu missense NM_001407627.1:c.2417C>A NP_001394556.1:p.Ala806Glu missense NM_001407628.1:c.2417C>A NP_001394557.1:p.Ala806Glu missense NM_001407629.1:c.2417C>A NP_001394558.1:p.Ala806Glu missense NM_001407630.1:c.2417C>A NP_001394559.1:p.Ala806Glu missense NM_001407631.1:c.2417C>A NP_001394560.1:p.Ala806Glu missense NM_001407632.1:c.2417C>A NP_001394561.1:p.Ala806Glu missense NM_001407633.1:c.2417C>A NP_001394562.1:p.Ala806Glu missense NM_001407634.1:c.2417C>A NP_001394563.1:p.Ala806Glu missense NM_001407635.1:c.2417C>A NP_001394564.1:p.Ala806Glu missense NM_001407636.1:c.2417C>A NP_001394565.1:p.Ala806Glu missense NM_001407637.1:c.2417C>A NP_001394566.1:p.Ala806Glu missense NM_001407638.1:c.2417C>A NP_001394567.1:p.Ala806Glu missense NM_001407639.1:c.2420C>A NP_001394568.1:p.Ala807Glu missense NM_001407640.1:c.2420C>A NP_001394569.1:p.Ala807Glu missense NM_001407641.1:c.2420C>A NP_001394570.1:p.Ala807Glu missense NM_001407642.1:c.2420C>A NP_001394571.1:p.Ala807Glu missense NM_001407644.1:c.2417C>A NP_001394573.1:p.Ala806Glu missense NM_001407645.1:c.2417C>A NP_001394574.1:p.Ala806Glu missense NM_001407646.1:c.2411C>A NP_001394575.1:p.Ala804Glu missense NM_001407647.1:c.2411C>A NP_001394576.1:p.Ala804Glu missense NM_001407648.1:c.2297C>A NP_001394577.1:p.Ala766Glu missense NM_001407649.1:c.2294C>A NP_001394578.1:p.Ala765Glu missense NM_001407652.1:c.2420C>A NP_001394581.1:p.Ala807Glu missense NM_001407653.1:c.2342C>A NP_001394582.1:p.Ala781Glu missense NM_001407654.1:c.2342C>A NP_001394583.1:p.Ala781Glu missense NM_001407655.1:c.2342C>A NP_001394584.1:p.Ala781Glu missense NM_001407656.1:c.2342C>A NP_001394585.1:p.Ala781Glu missense NM_001407657.1:c.2342C>A NP_001394586.1:p.Ala781Glu missense NM_001407658.1:c.2342C>A NP_001394587.1:p.Ala781Glu missense NM_001407659.1:c.2339C>A NP_001394588.1:p.Ala780Glu missense NM_001407660.1:c.2339C>A NP_001394589.1:p.Ala780Glu missense NM_001407661.1:c.2339C>A NP_001394590.1:p.Ala780Glu missense NM_001407662.1:c.2339C>A NP_001394591.1:p.Ala780Glu missense NM_001407663.1:c.2342C>A NP_001394592.1:p.Ala781Glu missense NM_001407664.1:c.2297C>A NP_001394593.1:p.Ala766Glu missense NM_001407665.1:c.2297C>A NP_001394594.1:p.Ala766Glu missense NM_001407666.1:c.2297C>A NP_001394595.1:p.Ala766Glu missense NM_001407667.1:c.2297C>A NP_001394596.1:p.Ala766Glu missense NM_001407668.1:c.2297C>A NP_001394597.1:p.Ala766Glu missense NM_001407669.1:c.2297C>A NP_001394598.1:p.Ala766Glu missense NM_001407670.1:c.2294C>A NP_001394599.1:p.Ala765Glu missense NM_001407671.1:c.2294C>A NP_001394600.1:p.Ala765Glu missense NM_001407672.1:c.2294C>A NP_001394601.1:p.Ala765Glu missense NM_001407673.1:c.2294C>A NP_001394602.1:p.Ala765Glu missense NM_001407674.1:c.2297C>A NP_001394603.1:p.Ala766Glu missense NM_001407675.1:c.2297C>A NP_001394604.1:p.Ala766Glu missense NM_001407676.1:c.2297C>A NP_001394605.1:p.Ala766Glu missense NM_001407677.1:c.2297C>A NP_001394606.1:p.Ala766Glu missense NM_001407678.1:c.2297C>A NP_001394607.1:p.Ala766Glu missense NM_001407679.1:c.2297C>A NP_001394608.1:p.Ala766Glu missense NM_001407680.1:c.2297C>A NP_001394609.1:p.Ala766Glu missense NM_001407681.1:c.2297C>A NP_001394610.1:p.Ala766Glu missense NM_001407682.1:c.2297C>A NP_001394611.1:p.Ala766Glu missense NM_001407683.1:c.2297C>A NP_001394612.1:p.Ala766Glu missense NM_001407684.1:c.2420C>A NP_001394613.1:p.Ala807Glu missense NM_001407685.1:c.2294C>A NP_001394614.1:p.Ala765Glu missense NM_001407686.1:c.2294C>A NP_001394615.1:p.Ala765Glu missense NM_001407687.1:c.2294C>A NP_001394616.1:p.Ala765Glu missense NM_001407688.1:c.2294C>A NP_001394617.1:p.Ala765Glu missense NM_001407689.1:c.2294C>A NP_001394618.1:p.Ala765Glu missense NM_001407690.1:c.2294C>A NP_001394619.1:p.Ala765Glu missense NM_001407691.1:c.2294C>A NP_001394620.1:p.Ala765Glu missense NM_001407692.1:c.2279C>A NP_001394621.1:p.Ala760Glu missense NM_001407694.1:c.2279C>A NP_001394623.1:p.Ala760Glu missense NM_001407695.1:c.2279C>A NP_001394624.1:p.Ala760Glu missense NM_001407696.1:c.2279C>A NP_001394625.1:p.Ala760Glu missense NM_001407697.1:c.2279C>A NP_001394626.1:p.Ala760Glu missense NM_001407698.1:c.2279C>A NP_001394627.1:p.Ala760Glu missense NM_001407724.1:c.2279C>A NP_001394653.1:p.Ala760Glu missense NM_001407725.1:c.2279C>A NP_001394654.1:p.Ala760Glu missense NM_001407726.1:c.2279C>A NP_001394655.1:p.Ala760Glu missense NM_001407727.1:c.2279C>A NP_001394656.1:p.Ala760Glu missense NM_001407728.1:c.2279C>A NP_001394657.1:p.Ala760Glu missense NM_001407729.1:c.2279C>A NP_001394658.1:p.Ala760Glu missense NM_001407730.1:c.2279C>A NP_001394659.1:p.Ala760Glu missense NM_001407731.1:c.2279C>A NP_001394660.1:p.Ala760Glu missense NM_001407732.1:c.2279C>A NP_001394661.1:p.Ala760Glu missense NM_001407733.1:c.2279C>A NP_001394662.1:p.Ala760Glu missense NM_001407734.1:c.2279C>A NP_001394663.1:p.Ala760Glu missense NM_001407735.1:c.2279C>A NP_001394664.1:p.Ala760Glu missense NM_001407736.1:c.2279C>A NP_001394665.1:p.Ala760Glu missense NM_001407737.1:c.2279C>A NP_001394666.1:p.Ala760Glu missense NM_001407738.1:c.2279C>A NP_001394667.1:p.Ala760Glu missense NM_001407739.1:c.2279C>A NP_001394668.1:p.Ala760Glu missense NM_001407740.1:c.2276C>A NP_001394669.1:p.Ala759Glu missense NM_001407741.1:c.2276C>A NP_001394670.1:p.Ala759Glu missense NM_001407742.1:c.2276C>A NP_001394671.1:p.Ala759Glu missense NM_001407743.1:c.2276C>A NP_001394672.1:p.Ala759Glu missense NM_001407744.1:c.2276C>A NP_001394673.1:p.Ala759Glu missense NM_001407745.1:c.2276C>A NP_001394674.1:p.Ala759Glu missense NM_001407746.1:c.2276C>A NP_001394675.1:p.Ala759Glu missense NM_001407747.1:c.2276C>A NP_001394676.1:p.Ala759Glu missense NM_001407748.1:c.2276C>A NP_001394677.1:p.Ala759Glu missense NM_001407749.1:c.2276C>A NP_001394678.1:p.Ala759Glu missense NM_001407750.1:c.2279C>A NP_001394679.1:p.Ala760Glu missense NM_001407751.1:c.2279C>A NP_001394680.1:p.Ala760Glu missense NM_001407752.1:c.2279C>A NP_001394681.1:p.Ala760Glu missense NM_001407838.1:c.2276C>A NP_001394767.1:p.Ala759Glu missense NM_001407839.1:c.2276C>A NP_001394768.1:p.Ala759Glu missense NM_001407841.1:c.2276C>A NP_001394770.1:p.Ala759Glu missense NM_001407842.1:c.2276C>A NP_001394771.1:p.Ala759Glu missense NM_001407843.1:c.2276C>A NP_001394772.1:p.Ala759Glu missense NM_001407844.1:c.2276C>A NP_001394773.1:p.Ala759Glu missense NM_001407845.1:c.2276C>A NP_001394774.1:p.Ala759Glu missense NM_001407846.1:c.2276C>A NP_001394775.1:p.Ala759Glu missense NM_001407847.1:c.2276C>A NP_001394776.1:p.Ala759Glu missense NM_001407848.1:c.2276C>A NP_001394777.1:p.Ala759Glu missense NM_001407849.1:c.2276C>A NP_001394778.1:p.Ala759Glu missense NM_001407850.1:c.2279C>A NP_001394779.1:p.Ala760Glu missense NM_001407851.1:c.2279C>A NP_001394780.1:p.Ala760Glu missense NM_001407852.1:c.2279C>A NP_001394781.1:p.Ala760Glu missense NM_001407853.1:c.2207C>A NP_001394782.1:p.Ala736Glu missense NM_001407854.1:c.2420C>A NP_001394783.1:p.Ala807Glu missense NM_001407858.1:c.2420C>A NP_001394787.1:p.Ala807Glu missense NM_001407859.1:c.2420C>A NP_001394788.1:p.Ala807Glu missense NM_001407860.1:c.2417C>A NP_001394789.1:p.Ala806Glu missense NM_001407861.1:c.2417C>A NP_001394790.1:p.Ala806Glu missense NM_001407862.1:c.2219C>A NP_001394791.1:p.Ala740Glu missense NM_001407863.1:c.2297C>A NP_001394792.1:p.Ala766Glu missense NM_001407874.1:c.2216C>A NP_001394803.1:p.Ala739Glu missense NM_001407875.1:c.2216C>A NP_001394804.1:p.Ala739Glu missense NM_001407879.1:c.2210C>A NP_001394808.1:p.Ala737Glu missense NM_001407881.1:c.2210C>A NP_001394810.1:p.Ala737Glu missense NM_001407882.1:c.2210C>A NP_001394811.1:p.Ala737Glu missense NM_001407884.1:c.2210C>A NP_001394813.1:p.Ala737Glu missense NM_001407885.1:c.2210C>A NP_001394814.1:p.Ala737Glu missense NM_001407886.1:c.2210C>A NP_001394815.1:p.Ala737Glu missense NM_001407887.1:c.2210C>A NP_001394816.1:p.Ala737Glu missense NM_001407889.1:c.2210C>A NP_001394818.1:p.Ala737Glu missense NM_001407894.1:c.2207C>A NP_001394823.1:p.Ala736Glu missense NM_001407895.1:c.2207C>A NP_001394824.1:p.Ala736Glu missense NM_001407896.1:c.2207C>A NP_001394825.1:p.Ala736Glu missense NM_001407897.1:c.2207C>A NP_001394826.1:p.Ala736Glu missense NM_001407898.1:c.2207C>A NP_001394827.1:p.Ala736Glu missense NM_001407899.1:c.2207C>A NP_001394828.1:p.Ala736Glu missense NM_001407900.1:c.2210C>A NP_001394829.1:p.Ala737Glu missense NM_001407902.1:c.2210C>A NP_001394831.1:p.Ala737Glu missense NM_001407904.1:c.2210C>A NP_001394833.1:p.Ala737Glu missense NM_001407906.1:c.2210C>A NP_001394835.1:p.Ala737Glu missense NM_001407907.1:c.2210C>A NP_001394836.1:p.Ala737Glu missense NM_001407908.1:c.2210C>A NP_001394837.1:p.Ala737Glu missense NM_001407909.1:c.2210C>A NP_001394838.1:p.Ala737Glu missense NM_001407910.1:c.2210C>A NP_001394839.1:p.Ala737Glu missense NM_001407915.1:c.2207C>A NP_001394844.1:p.Ala736Glu missense NM_001407916.1:c.2207C>A NP_001394845.1:p.Ala736Glu missense NM_001407917.1:c.2207C>A NP_001394846.1:p.Ala736Glu missense NM_001407918.1:c.2207C>A NP_001394847.1:p.Ala736Glu missense NM_001407919.1:c.2297C>A NP_001394848.1:p.Ala766Glu missense NM_001407920.1:c.2156C>A NP_001394849.1:p.Ala719Glu missense NM_001407921.1:c.2156C>A NP_001394850.1:p.Ala719Glu missense NM_001407922.1:c.2156C>A NP_001394851.1:p.Ala719Glu missense NM_001407923.1:c.2156C>A NP_001394852.1:p.Ala719Glu missense NM_001407924.1:c.2156C>A NP_001394853.1:p.Ala719Glu missense NM_001407925.1:c.2156C>A NP_001394854.1:p.Ala719Glu missense NM_001407926.1:c.2156C>A NP_001394855.1:p.Ala719Glu missense NM_001407927.1:c.2156C>A NP_001394856.1:p.Ala719Glu missense NM_001407928.1:c.2156C>A NP_001394857.1:p.Ala719Glu missense NM_001407929.1:c.2156C>A NP_001394858.1:p.Ala719Glu missense NM_001407930.1:c.2153C>A NP_001394859.1:p.Ala718Glu missense NM_001407931.1:c.2153C>A NP_001394860.1:p.Ala718Glu missense NM_001407932.1:c.2153C>A NP_001394861.1:p.Ala718Glu missense NM_001407933.1:c.2156C>A NP_001394862.1:p.Ala719Glu missense NM_001407934.1:c.2153C>A NP_001394863.1:p.Ala718Glu missense NM_001407935.1:c.2156C>A NP_001394864.1:p.Ala719Glu missense NM_001407936.1:c.2153C>A NP_001394865.1:p.Ala718Glu missense NM_001407937.1:c.2297C>A NP_001394866.1:p.Ala766Glu missense NM_001407938.1:c.2297C>A NP_001394867.1:p.Ala766Glu missense NM_001407939.1:c.2297C>A NP_001394868.1:p.Ala766Glu missense NM_001407940.1:c.2294C>A NP_001394869.1:p.Ala765Glu missense NM_001407941.1:c.2294C>A NP_001394870.1:p.Ala765Glu missense NM_001407942.1:c.2279C>A NP_001394871.1:p.Ala760Glu missense NM_001407943.1:c.2276C>A NP_001394872.1:p.Ala759Glu missense NM_001407944.1:c.2279C>A NP_001394873.1:p.Ala760Glu missense NM_001407945.1:c.2279C>A NP_001394874.1:p.Ala760Glu missense NM_001407946.1:c.2087C>A NP_001394875.1:p.Ala696Glu missense NM_001407947.1:c.2087C>A NP_001394876.1:p.Ala696Glu missense NM_001407948.1:c.2087C>A NP_001394877.1:p.Ala696Glu missense NM_001407949.1:c.2087C>A NP_001394878.1:p.Ala696Glu missense NM_001407950.1:c.2087C>A NP_001394879.1:p.Ala696Glu missense NM_001407951.1:c.2087C>A NP_001394880.1:p.Ala696Glu missense NM_001407952.1:c.2087C>A NP_001394881.1:p.Ala696Glu missense NM_001407953.1:c.2087C>A NP_001394882.1:p.Ala696Glu missense NM_001407954.1:c.2084C>A NP_001394883.1:p.Ala695Glu missense NM_001407955.1:c.2084C>A NP_001394884.1:p.Ala695Glu missense NM_001407956.1:c.2084C>A NP_001394885.1:p.Ala695Glu missense NM_001407957.1:c.2087C>A NP_001394886.1:p.Ala696Glu missense NM_001407958.1:c.2084C>A NP_001394887.1:p.Ala695Glu missense NM_001407959.1:c.2039C>A NP_001394888.1:p.Ala680Glu missense NM_001407960.1:c.2039C>A NP_001394889.1:p.Ala680Glu missense NM_001407962.1:c.2036C>A NP_001394891.1:p.Ala679Glu missense NM_001407963.1:c.2039C>A NP_001394892.1:p.Ala680Glu missense NM_001407964.1:c.2276C>A NP_001394893.1:p.Ala759Glu missense NM_001407965.1:c.1916C>A NP_001394894.1:p.Ala639Glu missense NM_001407966.1:c.1532C>A NP_001394895.1:p.Ala511Glu missense NM_001407967.1:c.1532C>A NP_001394896.1:p.Ala511Glu missense NM_001407968.1:c.788-972C>A intron variant NM_001407969.1:c.788-972C>A intron variant NM_001407970.1:c.787+1633C>A intron variant NM_001407971.1:c.787+1633C>A intron variant NM_001407972.1:c.784+1633C>A intron variant NM_001407973.1:c.787+1633C>A intron variant NM_001407974.1:c.787+1633C>A intron variant NM_001407975.1:c.787+1633C>A intron variant NM_001407976.1:c.787+1633C>A intron variant NM_001407977.1:c.787+1633C>A intron variant NM_001407978.1:c.787+1633C>A intron variant NM_001407979.1:c.787+1633C>A intron variant NM_001407980.1:c.787+1633C>A intron variant NM_001407981.1:c.787+1633C>A intron variant NM_001407982.1:c.787+1633C>A intron variant NM_001407983.1:c.787+1633C>A intron variant NM_001407984.1:c.784+1633C>A intron variant NM_001407985.1:c.784+1633C>A intron variant NM_001407986.1:c.784+1633C>A intron variant NM_001407990.1:c.787+1633C>A intron variant NM_001407991.1:c.784+1633C>A intron variant NM_001407992.1:c.784+1633C>A intron variant NM_001407993.1:c.787+1633C>A intron variant NM_001408392.1:c.784+1633C>A intron variant NM_001408396.1:c.784+1633C>A intron variant NM_001408397.1:c.784+1633C>A intron variant NM_001408398.1:c.784+1633C>A intron variant NM_001408399.1:c.784+1633C>A intron variant NM_001408400.1:c.784+1633C>A intron variant NM_001408401.1:c.784+1633C>A intron variant NM_001408402.1:c.784+1633C>A intron variant NM_001408403.1:c.787+1633C>A intron variant NM_001408404.1:c.787+1633C>A intron variant NM_001408406.1:c.790+1630C>A intron variant NM_001408407.1:c.784+1633C>A intron variant NM_001408408.1:c.778+1633C>A intron variant NM_001408409.1:c.709+1633C>A intron variant NM_001408410.1:c.646+1633C>A intron variant NM_001408411.1:c.709+1633C>A intron variant NM_001408412.1:c.709+1633C>A intron variant NM_001408413.1:c.706+1633C>A intron variant NM_001408414.1:c.709+1633C>A intron variant NM_001408415.1:c.709+1633C>A intron variant NM_001408416.1:c.706+1633C>A intron variant NM_001408418.1:c.671-2079C>A intron variant NM_001408419.1:c.671-2079C>A intron variant NM_001408420.1:c.671-2079C>A intron variant NM_001408421.1:c.668-2079C>A intron variant NM_001408422.1:c.671-2079C>A intron variant NM_001408423.1:c.671-2079C>A intron variant NM_001408424.1:c.668-2079C>A intron variant NM_001408425.1:c.664+1633C>A intron variant NM_001408426.1:c.664+1633C>A intron variant NM_001408427.1:c.664+1633C>A intron variant NM_001408428.1:c.664+1633C>A intron variant NM_001408429.1:c.664+1633C>A intron variant NM_001408430.1:c.664+1633C>A intron variant NM_001408431.1:c.668-2079C>A intron variant NM_001408432.1:c.661+1633C>A intron variant NM_001408433.1:c.661+1633C>A intron variant NM_001408434.1:c.661+1633C>A intron variant NM_001408435.1:c.661+1633C>A intron variant NM_001408436.1:c.664+1633C>A intron variant NM_001408437.1:c.664+1633C>A intron variant NM_001408438.1:c.664+1633C>A intron variant NM_001408439.1:c.664+1633C>A intron variant NM_001408440.1:c.664+1633C>A intron variant NM_001408441.1:c.664+1633C>A intron variant NM_001408442.1:c.664+1633C>A intron variant NM_001408443.1:c.664+1633C>A intron variant NM_001408444.1:c.664+1633C>A intron variant NM_001408445.1:c.661+1633C>A intron variant NM_001408446.1:c.661+1633C>A intron variant NM_001408447.1:c.661+1633C>A intron variant NM_001408448.1:c.661+1633C>A intron variant NM_001408450.1:c.661+1633C>A intron variant NM_001408451.1:c.652+1633C>A intron variant NM_001408452.1:c.646+1633C>A intron variant NM_001408453.1:c.646+1633C>A intron variant NM_001408454.1:c.646+1633C>A intron variant NM_001408455.1:c.646+1633C>A intron variant NM_001408456.1:c.646+1633C>A intron variant NM_001408457.1:c.646+1633C>A intron variant NM_001408458.1:c.646+1633C>A intron variant NM_001408459.1:c.646+1633C>A intron variant NM_001408460.1:c.646+1633C>A intron variant NM_001408461.1:c.646+1633C>A intron variant NM_001408462.1:c.643+1633C>A intron variant NM_001408463.1:c.643+1633C>A intron variant NM_001408464.1:c.643+1633C>A intron variant NM_001408465.1:c.643+1633C>A intron variant NM_001408466.1:c.646+1633C>A intron variant NM_001408467.1:c.646+1633C>A intron variant NM_001408468.1:c.643+1633C>A intron variant NM_001408469.1:c.646+1633C>A intron variant NM_001408470.1:c.643+1633C>A intron variant NM_001408472.1:c.787+1633C>A intron variant NM_001408473.1:c.784+1633C>A intron variant NM_001408474.1:c.586+1633C>A intron variant NM_001408475.1:c.583+1633C>A intron variant NM_001408476.1:c.586+1633C>A intron variant NM_001408478.1:c.577+1633C>A intron variant NM_001408479.1:c.577+1633C>A intron variant NM_001408480.1:c.577+1633C>A intron variant NM_001408481.1:c.577+1633C>A intron variant NM_001408482.1:c.577+1633C>A intron variant NM_001408483.1:c.577+1633C>A intron variant NM_001408484.1:c.577+1633C>A intron variant NM_001408485.1:c.577+1633C>A intron variant NM_001408489.1:c.577+1633C>A intron variant NM_001408490.1:c.574+1633C>A intron variant NM_001408491.1:c.574+1633C>A intron variant NM_001408492.1:c.577+1633C>A intron variant NM_001408493.1:c.574+1633C>A intron variant NM_001408494.1:c.548-2079C>A intron variant NM_001408495.1:c.545-2079C>A intron variant NM_001408496.1:c.523+1633C>A intron variant NM_001408497.1:c.523+1633C>A intron variant NM_001408498.1:c.523+1633C>A intron variant NM_001408499.1:c.523+1633C>A intron variant NM_001408500.1:c.523+1633C>A intron variant NM_001408501.1:c.523+1633C>A intron variant NM_001408502.1:c.454+1633C>A intron variant NM_001408503.1:c.520+1633C>A intron variant NM_001408504.1:c.520+1633C>A intron variant NM_001408505.1:c.520+1633C>A intron variant NM_001408506.1:c.461-2079C>A intron variant NM_001408507.1:c.461-2079C>A intron variant NM_001408508.1:c.451+1633C>A intron variant NM_001408509.1:c.451+1633C>A intron variant NM_001408510.1:c.406+1633C>A intron variant NM_001408511.1:c.404-2079C>A intron variant NM_001408512.1:c.283+1633C>A intron variant NM_001408513.1:c.577+1633C>A intron variant NM_001408514.1:c.577+1633C>A intron variant NM_007297.4:c.2279C>A NP_009228.2:p.Ala760Glu missense NM_007298.4:c.787+1633C>A intron variant NM_007299.4:c.787+1633C>A intron variant NM_007300.4:c.2420C>A NP_009231.2:p.Ala807Glu missense NR_027676.1:n.2556C>A NC_000017.11:g.43093111G>T NC_000017.10:g.41245128G>T NG_005905.2:g.124873C>A LRG_292:g.124873C>A LRG_292t1:c.2420C>A LRG_292p1:p.Ala807Glu U14680.1:n.2539C>A - Protein change
- A807E, A760E, A679E, A739E, A740E, A804E, A695E, A719E, A759E, A806E, A511E, A680E, A696E, A765E, A780E, A781E, A639E, A718E, A736E, A737E, A766E
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093110:G:T
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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 |
13037 | 14843 |
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) |
no assertion criteria provided
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May 26, 2005 | RCV000111855.2 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Mar 23, 2023 | RCV001015490.8 | |
Uncertain significance (1) |
criteria provided, single submitter
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Nov 28, 2017 | RCV001346971.8 |
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
(Apr 11, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV001176329.4
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The p.A807E variant (also known as c.2420C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide … (more)
The p.A807E variant (also known as c.2420C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 2420. The alanine at codon 807 is replaced by glutamic acid, an amino acid with dissimilar properties. In one study, this alteration was reported in 1/76 Chinese familial breast and/or ovarian cancer patients (Kim YC et al. Oncotarget, 2016 Feb;7:9600-12). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (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: SCV003847678.1
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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Uncertain significance
(Nov 28, 2017)
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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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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001541209.4
First in ClinVar: Mar 22, 2021 Last updated: Feb 14, 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 54566). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glutamic acid at codon 807 of the BRCA1 protein (p.Ala807Glu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and glutamic acid. (less)
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Uncertain significance
(May 26, 2005)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
somatic
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144425.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Chinese
Geographic origin: China
|
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 |
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. | Bhaskaran SP | International journal of cancer | 2019 | PMID: 30702160 |
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients. | Kim YC | Oncotarget | 2016 | PMID: 26848529 |
Text-mined citations for rs273899683 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.