ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val)
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(8); 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.734A>T (p.Asp245Val)
Variation ID: 55682 Accession: VCV000055682.38
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094797 (GRCh38) [ NCBI UCSC ] 17: 41246814 (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 Jan 8, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.734A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp245Val missense NM_001407571.1:c.521A>T NP_001394500.1:p.Asp174Val missense NM_001407581.1:c.734A>T NP_001394510.1:p.Asp245Val missense NM_001407582.1:c.734A>T NP_001394511.1:p.Asp245Val missense NM_001407583.1:c.734A>T NP_001394512.1:p.Asp245Val missense NM_001407585.1:c.734A>T NP_001394514.1:p.Asp245Val missense NM_001407587.1:c.731A>T NP_001394516.1:p.Asp244Val missense NM_001407590.1:c.731A>T NP_001394519.1:p.Asp244Val missense NM_001407591.1:c.731A>T NP_001394520.1:p.Asp244Val missense NM_001407593.1:c.734A>T NP_001394522.1:p.Asp245Val missense NM_001407594.1:c.734A>T NP_001394523.1:p.Asp245Val missense NM_001407596.1:c.734A>T NP_001394525.1:p.Asp245Val missense NM_001407597.1:c.734A>T NP_001394526.1:p.Asp245Val missense NM_001407598.1:c.734A>T NP_001394527.1:p.Asp245Val missense NM_001407602.1:c.734A>T NP_001394531.1:p.Asp245Val missense NM_001407603.1:c.734A>T NP_001394532.1:p.Asp245Val missense NM_001407605.1:c.734A>T NP_001394534.1:p.Asp245Val missense NM_001407610.1:c.731A>T NP_001394539.1:p.Asp244Val missense NM_001407611.1:c.731A>T NP_001394540.1:p.Asp244Val missense NM_001407612.1:c.731A>T NP_001394541.1:p.Asp244Val missense NM_001407613.1:c.731A>T NP_001394542.1:p.Asp244Val missense NM_001407614.1:c.731A>T NP_001394543.1:p.Asp244Val missense NM_001407615.1:c.731A>T NP_001394544.1:p.Asp244Val missense NM_001407616.1:c.734A>T NP_001394545.1:p.Asp245Val missense NM_001407617.1:c.734A>T NP_001394546.1:p.Asp245Val missense NM_001407618.1:c.734A>T NP_001394547.1:p.Asp245Val missense NM_001407619.1:c.734A>T NP_001394548.1:p.Asp245Val missense NM_001407620.1:c.734A>T NP_001394549.1:p.Asp245Val missense NM_001407621.1:c.734A>T NP_001394550.1:p.Asp245Val missense NM_001407622.1:c.734A>T NP_001394551.1:p.Asp245Val missense NM_001407623.1:c.734A>T NP_001394552.1:p.Asp245Val missense NM_001407624.1:c.734A>T NP_001394553.1:p.Asp245Val missense NM_001407625.1:c.734A>T NP_001394554.1:p.Asp245Val missense NM_001407626.1:c.734A>T NP_001394555.1:p.Asp245Val missense NM_001407627.1:c.731A>T NP_001394556.1:p.Asp244Val missense NM_001407628.1:c.731A>T NP_001394557.1:p.Asp244Val missense NM_001407629.1:c.731A>T NP_001394558.1:p.Asp244Val missense NM_001407630.1:c.731A>T NP_001394559.1:p.Asp244Val missense NM_001407631.1:c.731A>T NP_001394560.1:p.Asp244Val missense NM_001407632.1:c.731A>T NP_001394561.1:p.Asp244Val missense NM_001407633.1:c.731A>T NP_001394562.1:p.Asp244Val missense NM_001407634.1:c.731A>T NP_001394563.1:p.Asp244Val missense NM_001407635.1:c.731A>T NP_001394564.1:p.Asp244Val missense NM_001407636.1:c.731A>T NP_001394565.1:p.Asp244Val missense NM_001407637.1:c.731A>T NP_001394566.1:p.Asp244Val missense NM_001407638.1:c.731A>T NP_001394567.1:p.Asp244Val missense NM_001407639.1:c.734A>T NP_001394568.1:p.Asp245Val missense NM_001407640.1:c.734A>T NP_001394569.1:p.Asp245Val missense NM_001407641.1:c.734A>T NP_001394570.1:p.Asp245Val missense NM_001407642.1:c.734A>T NP_001394571.1:p.Asp245Val missense NM_001407644.1:c.731A>T NP_001394573.1:p.Asp244Val missense NM_001407645.1:c.731A>T NP_001394574.1:p.Asp244Val missense NM_001407646.1:c.725A>T NP_001394575.1:p.Asp242Val missense NM_001407647.1:c.725A>T NP_001394576.1:p.Asp242Val missense NM_001407648.1:c.611A>T NP_001394577.1:p.Asp204Val missense NM_001407649.1:c.608A>T NP_001394578.1:p.Asp203Val missense NM_001407652.1:c.734A>T NP_001394581.1:p.Asp245Val missense NM_001407653.1:c.656A>T NP_001394582.1:p.Asp219Val missense NM_001407654.1:c.656A>T NP_001394583.1:p.Asp219Val missense NM_001407655.1:c.656A>T NP_001394584.1:p.Asp219Val missense NM_001407656.1:c.656A>T NP_001394585.1:p.Asp219Val missense NM_001407657.1:c.656A>T NP_001394586.1:p.Asp219Val missense NM_001407658.1:c.656A>T NP_001394587.1:p.Asp219Val missense NM_001407659.1:c.653A>T NP_001394588.1:p.Asp218Val missense NM_001407660.1:c.653A>T NP_001394589.1:p.Asp218Val missense NM_001407661.1:c.653A>T NP_001394590.1:p.Asp218Val missense NM_001407662.1:c.653A>T NP_001394591.1:p.Asp218Val missense NM_001407663.1:c.656A>T NP_001394592.1:p.Asp219Val missense NM_001407664.1:c.611A>T NP_001394593.1:p.Asp204Val missense NM_001407665.1:c.611A>T NP_001394594.1:p.Asp204Val missense NM_001407666.1:c.611A>T NP_001394595.1:p.Asp204Val missense NM_001407667.1:c.611A>T NP_001394596.1:p.Asp204Val missense NM_001407668.1:c.611A>T NP_001394597.1:p.Asp204Val missense NM_001407669.1:c.611A>T NP_001394598.1:p.Asp204Val missense NM_001407670.1:c.608A>T NP_001394599.1:p.Asp203Val missense NM_001407671.1:c.608A>T NP_001394600.1:p.Asp203Val missense NM_001407672.1:c.608A>T NP_001394601.1:p.Asp203Val missense NM_001407673.1:c.608A>T NP_001394602.1:p.Asp203Val missense NM_001407674.1:c.611A>T NP_001394603.1:p.Asp204Val missense NM_001407675.1:c.611A>T NP_001394604.1:p.Asp204Val missense NM_001407676.1:c.611A>T NP_001394605.1:p.Asp204Val missense NM_001407677.1:c.611A>T NP_001394606.1:p.Asp204Val missense NM_001407678.1:c.611A>T NP_001394607.1:p.Asp204Val missense NM_001407679.1:c.611A>T NP_001394608.1:p.Asp204Val missense NM_001407680.1:c.611A>T NP_001394609.1:p.Asp204Val missense NM_001407681.1:c.611A>T NP_001394610.1:p.Asp204Val missense NM_001407682.1:c.611A>T NP_001394611.1:p.Asp204Val missense NM_001407683.1:c.611A>T NP_001394612.1:p.Asp204Val missense NM_001407684.1:c.734A>T NP_001394613.1:p.Asp245Val missense NM_001407685.1:c.608A>T NP_001394614.1:p.Asp203Val missense NM_001407686.1:c.608A>T NP_001394615.1:p.Asp203Val missense NM_001407687.1:c.608A>T NP_001394616.1:p.Asp203Val missense NM_001407688.1:c.608A>T NP_001394617.1:p.Asp203Val missense NM_001407689.1:c.608A>T NP_001394618.1:p.Asp203Val missense NM_001407690.1:c.608A>T NP_001394619.1:p.Asp203Val missense NM_001407691.1:c.608A>T NP_001394620.1:p.Asp203Val missense NM_001407692.1:c.593A>T NP_001394621.1:p.Asp198Val missense NM_001407694.1:c.593A>T NP_001394623.1:p.Asp198Val missense NM_001407695.1:c.593A>T NP_001394624.1:p.Asp198Val missense NM_001407696.1:c.593A>T NP_001394625.1:p.Asp198Val missense NM_001407697.1:c.593A>T NP_001394626.1:p.Asp198Val missense NM_001407698.1:c.593A>T NP_001394627.1:p.Asp198Val missense NM_001407724.1:c.593A>T NP_001394653.1:p.Asp198Val missense NM_001407725.1:c.593A>T NP_001394654.1:p.Asp198Val missense NM_001407726.1:c.593A>T NP_001394655.1:p.Asp198Val missense NM_001407727.1:c.593A>T NP_001394656.1:p.Asp198Val missense NM_001407728.1:c.593A>T NP_001394657.1:p.Asp198Val missense NM_001407729.1:c.593A>T NP_001394658.1:p.Asp198Val missense NM_001407730.1:c.593A>T NP_001394659.1:p.Asp198Val missense NM_001407731.1:c.593A>T NP_001394660.1:p.Asp198Val missense NM_001407732.1:c.593A>T NP_001394661.1:p.Asp198Val missense NM_001407733.1:c.593A>T NP_001394662.1:p.Asp198Val missense NM_001407734.1:c.593A>T NP_001394663.1:p.Asp198Val missense NM_001407735.1:c.593A>T NP_001394664.1:p.Asp198Val missense NM_001407736.1:c.593A>T NP_001394665.1:p.Asp198Val missense NM_001407737.1:c.593A>T NP_001394666.1:p.Asp198Val missense NM_001407738.1:c.593A>T NP_001394667.1:p.Asp198Val missense NM_001407739.1:c.593A>T NP_001394668.1:p.Asp198Val missense NM_001407740.1:c.590A>T NP_001394669.1:p.Asp197Val missense NM_001407741.1:c.590A>T NP_001394670.1:p.Asp197Val missense NM_001407742.1:c.590A>T NP_001394671.1:p.Asp197Val missense NM_001407743.1:c.590A>T NP_001394672.1:p.Asp197Val missense NM_001407744.1:c.590A>T NP_001394673.1:p.Asp197Val missense NM_001407745.1:c.590A>T NP_001394674.1:p.Asp197Val missense NM_001407746.1:c.590A>T NP_001394675.1:p.Asp197Val missense NM_001407747.1:c.590A>T NP_001394676.1:p.Asp197Val missense NM_001407748.1:c.590A>T NP_001394677.1:p.Asp197Val missense NM_001407749.1:c.590A>T NP_001394678.1:p.Asp197Val missense NM_001407750.1:c.593A>T NP_001394679.1:p.Asp198Val missense NM_001407751.1:c.593A>T NP_001394680.1:p.Asp198Val missense NM_001407752.1:c.593A>T NP_001394681.1:p.Asp198Val missense NM_001407838.1:c.590A>T NP_001394767.1:p.Asp197Val missense NM_001407839.1:c.590A>T NP_001394768.1:p.Asp197Val missense NM_001407841.1:c.590A>T NP_001394770.1:p.Asp197Val missense NM_001407842.1:c.590A>T NP_001394771.1:p.Asp197Val missense NM_001407843.1:c.590A>T NP_001394772.1:p.Asp197Val missense NM_001407844.1:c.590A>T NP_001394773.1:p.Asp197Val missense NM_001407845.1:c.590A>T NP_001394774.1:p.Asp197Val missense NM_001407846.1:c.590A>T NP_001394775.1:p.Asp197Val missense NM_001407847.1:c.590A>T NP_001394776.1:p.Asp197Val missense NM_001407848.1:c.590A>T NP_001394777.1:p.Asp197Val missense NM_001407849.1:c.590A>T NP_001394778.1:p.Asp197Val missense NM_001407850.1:c.593A>T NP_001394779.1:p.Asp198Val missense NM_001407851.1:c.593A>T NP_001394780.1:p.Asp198Val missense NM_001407852.1:c.593A>T NP_001394781.1:p.Asp198Val missense NM_001407853.1:c.521A>T NP_001394782.1:p.Asp174Val missense NM_001407854.1:c.734A>T NP_001394783.1:p.Asp245Val missense NM_001407858.1:c.734A>T NP_001394787.1:p.Asp245Val missense NM_001407859.1:c.734A>T NP_001394788.1:p.Asp245Val missense NM_001407860.1:c.731A>T NP_001394789.1:p.Asp244Val missense NM_001407861.1:c.731A>T NP_001394790.1:p.Asp244Val missense NM_001407862.1:c.533A>T NP_001394791.1:p.Asp178Val missense NM_001407863.1:c.611A>T NP_001394792.1:p.Asp204Val missense NM_001407874.1:c.530A>T NP_001394803.1:p.Asp177Val missense NM_001407875.1:c.530A>T NP_001394804.1:p.Asp177Val missense NM_001407879.1:c.524A>T NP_001394808.1:p.Asp175Val missense NM_001407881.1:c.524A>T NP_001394810.1:p.Asp175Val missense NM_001407882.1:c.524A>T NP_001394811.1:p.Asp175Val missense NM_001407884.1:c.524A>T NP_001394813.1:p.Asp175Val missense NM_001407885.1:c.524A>T NP_001394814.1:p.Asp175Val missense NM_001407886.1:c.524A>T NP_001394815.1:p.Asp175Val missense NM_001407887.1:c.524A>T NP_001394816.1:p.Asp175Val missense NM_001407889.1:c.524A>T NP_001394818.1:p.Asp175Val missense NM_001407894.1:c.521A>T NP_001394823.1:p.Asp174Val missense NM_001407895.1:c.521A>T NP_001394824.1:p.Asp174Val missense NM_001407896.1:c.521A>T NP_001394825.1:p.Asp174Val missense NM_001407897.1:c.521A>T NP_001394826.1:p.Asp174Val missense NM_001407898.1:c.521A>T NP_001394827.1:p.Asp174Val missense NM_001407899.1:c.521A>T NP_001394828.1:p.Asp174Val missense NM_001407900.1:c.524A>T NP_001394829.1:p.Asp175Val missense NM_001407902.1:c.524A>T NP_001394831.1:p.Asp175Val missense NM_001407904.1:c.524A>T NP_001394833.1:p.Asp175Val missense NM_001407906.1:c.524A>T NP_001394835.1:p.Asp175Val missense NM_001407907.1:c.524A>T NP_001394836.1:p.Asp175Val missense NM_001407908.1:c.524A>T NP_001394837.1:p.Asp175Val missense NM_001407909.1:c.524A>T NP_001394838.1:p.Asp175Val missense NM_001407910.1:c.524A>T NP_001394839.1:p.Asp175Val missense NM_001407915.1:c.521A>T NP_001394844.1:p.Asp174Val missense NM_001407916.1:c.521A>T NP_001394845.1:p.Asp174Val missense NM_001407917.1:c.521A>T NP_001394846.1:p.Asp174Val missense NM_001407918.1:c.521A>T NP_001394847.1:p.Asp174Val missense NM_001407919.1:c.611A>T NP_001394848.1:p.Asp204Val missense NM_001407920.1:c.470A>T NP_001394849.1:p.Asp157Val missense NM_001407921.1:c.470A>T NP_001394850.1:p.Asp157Val missense NM_001407922.1:c.470A>T NP_001394851.1:p.Asp157Val missense NM_001407923.1:c.470A>T NP_001394852.1:p.Asp157Val missense NM_001407924.1:c.470A>T NP_001394853.1:p.Asp157Val missense NM_001407925.1:c.470A>T NP_001394854.1:p.Asp157Val missense NM_001407926.1:c.470A>T NP_001394855.1:p.Asp157Val missense NM_001407927.1:c.470A>T NP_001394856.1:p.Asp157Val missense NM_001407928.1:c.470A>T NP_001394857.1:p.Asp157Val missense NM_001407929.1:c.470A>T NP_001394858.1:p.Asp157Val missense NM_001407930.1:c.467A>T NP_001394859.1:p.Asp156Val missense NM_001407931.1:c.467A>T NP_001394860.1:p.Asp156Val missense NM_001407932.1:c.467A>T NP_001394861.1:p.Asp156Val missense NM_001407933.1:c.470A>T NP_001394862.1:p.Asp157Val missense NM_001407934.1:c.467A>T NP_001394863.1:p.Asp156Val missense NM_001407935.1:c.470A>T NP_001394864.1:p.Asp157Val missense NM_001407936.1:c.467A>T NP_001394865.1:p.Asp156Val missense NM_001407937.1:c.611A>T NP_001394866.1:p.Asp204Val missense NM_001407938.1:c.611A>T NP_001394867.1:p.Asp204Val missense NM_001407939.1:c.611A>T NP_001394868.1:p.Asp204Val missense NM_001407940.1:c.608A>T NP_001394869.1:p.Asp203Val missense NM_001407941.1:c.608A>T NP_001394870.1:p.Asp203Val missense NM_001407942.1:c.593A>T NP_001394871.1:p.Asp198Val missense NM_001407943.1:c.590A>T NP_001394872.1:p.Asp197Val missense NM_001407944.1:c.593A>T NP_001394873.1:p.Asp198Val missense NM_001407945.1:c.593A>T NP_001394874.1:p.Asp198Val missense NM_001407946.1:c.401A>T NP_001394875.1:p.Asp134Val missense NM_001407947.1:c.401A>T NP_001394876.1:p.Asp134Val missense NM_001407948.1:c.401A>T NP_001394877.1:p.Asp134Val missense NM_001407949.1:c.401A>T NP_001394878.1:p.Asp134Val missense NM_001407950.1:c.401A>T NP_001394879.1:p.Asp134Val missense NM_001407951.1:c.401A>T NP_001394880.1:p.Asp134Val missense NM_001407952.1:c.401A>T NP_001394881.1:p.Asp134Val missense NM_001407953.1:c.401A>T NP_001394882.1:p.Asp134Val missense NM_001407954.1:c.398A>T NP_001394883.1:p.Asp133Val missense NM_001407955.1:c.398A>T NP_001394884.1:p.Asp133Val missense NM_001407956.1:c.398A>T NP_001394885.1:p.Asp133Val missense NM_001407957.1:c.401A>T NP_001394886.1:p.Asp134Val missense NM_001407958.1:c.398A>T NP_001394887.1:p.Asp133Val missense NM_001407959.1:c.353A>T NP_001394888.1:p.Asp118Val missense NM_001407960.1:c.353A>T NP_001394889.1:p.Asp118Val missense NM_001407962.1:c.350A>T NP_001394891.1:p.Asp117Val missense NM_001407963.1:c.353A>T NP_001394892.1:p.Asp118Val missense NM_001407964.1:c.590A>T NP_001394893.1:p.Asp197Val missense NM_001407965.1:c.230A>T NP_001394894.1:p.Asp77Val missense NM_001407966.1:c.-155A>T NM_001407967.1:c.-155A>T NM_001407968.1:c.734A>T NP_001394897.1:p.Asp245Val missense NM_001407969.1:c.734A>T NP_001394898.1:p.Asp245Val missense NM_001407970.1:c.734A>T NP_001394899.1:p.Asp245Val missense NM_001407971.1:c.734A>T NP_001394900.1:p.Asp245Val missense NM_001407972.1:c.731A>T NP_001394901.1:p.Asp244Val missense NM_001407973.1:c.734A>T NP_001394902.1:p.Asp245Val missense NM_001407974.1:c.734A>T NP_001394903.1:p.Asp245Val missense NM_001407975.1:c.734A>T NP_001394904.1:p.Asp245Val missense NM_001407976.1:c.734A>T NP_001394905.1:p.Asp245Val missense NM_001407977.1:c.734A>T NP_001394906.1:p.Asp245Val missense NM_001407978.1:c.734A>T NP_001394907.1:p.Asp245Val missense NM_001407979.1:c.734A>T NP_001394908.1:p.Asp245Val missense NM_001407980.1:c.734A>T NP_001394909.1:p.Asp245Val missense NM_001407981.1:c.734A>T NP_001394910.1:p.Asp245Val missense NM_001407982.1:c.734A>T NP_001394911.1:p.Asp245Val missense NM_001407983.1:c.734A>T NP_001394912.1:p.Asp245Val missense NM_001407984.1:c.731A>T NP_001394913.1:p.Asp244Val missense NM_001407985.1:c.731A>T NP_001394914.1:p.Asp244Val missense NM_001407986.1:c.731A>T NP_001394915.1:p.Asp244Val missense NM_001407990.1:c.734A>T NP_001394919.1:p.Asp245Val missense NM_001407991.1:c.731A>T NP_001394920.1:p.Asp244Val missense NM_001407992.1:c.731A>T NP_001394921.1:p.Asp244Val missense NM_001407993.1:c.734A>T NP_001394922.1:p.Asp245Val missense NM_001408392.1:c.731A>T NP_001395321.1:p.Asp244Val missense NM_001408396.1:c.731A>T NP_001395325.1:p.Asp244Val missense NM_001408397.1:c.731A>T NP_001395326.1:p.Asp244Val missense NM_001408398.1:c.731A>T NP_001395327.1:p.Asp244Val missense NM_001408399.1:c.731A>T NP_001395328.1:p.Asp244Val missense NM_001408400.1:c.731A>T NP_001395329.1:p.Asp244Val missense NM_001408401.1:c.731A>T NP_001395330.1:p.Asp244Val missense NM_001408402.1:c.731A>T NP_001395331.1:p.Asp244Val missense NM_001408403.1:c.734A>T NP_001395332.1:p.Asp245Val missense NM_001408404.1:c.734A>T NP_001395333.1:p.Asp245Val missense NM_001408406.1:c.734A>T NP_001395335.1:p.Asp245Val missense NM_001408407.1:c.731A>T NP_001395336.1:p.Asp244Val missense NM_001408408.1:c.725A>T NP_001395337.1:p.Asp242Val missense NM_001408409.1:c.656A>T NP_001395338.1:p.Asp219Val missense NM_001408410.1:c.593A>T NP_001395339.1:p.Asp198Val missense NM_001408411.1:c.656A>T NP_001395340.1:p.Asp219Val missense NM_001408412.1:c.656A>T NP_001395341.1:p.Asp219Val missense NM_001408413.1:c.653A>T NP_001395342.1:p.Asp218Val missense NM_001408414.1:c.656A>T NP_001395343.1:p.Asp219Val missense NM_001408415.1:c.656A>T NP_001395344.1:p.Asp219Val missense NM_001408416.1:c.653A>T NP_001395345.1:p.Asp218Val missense NM_001408425.1:c.611A>T NP_001395354.1:p.Asp204Val missense NM_001408426.1:c.611A>T NP_001395355.1:p.Asp204Val missense NM_001408427.1:c.611A>T NP_001395356.1:p.Asp204Val missense NM_001408428.1:c.611A>T NP_001395357.1:p.Asp204Val missense NM_001408429.1:c.611A>T NP_001395358.1:p.Asp204Val missense NM_001408430.1:c.611A>T NP_001395359.1:p.Asp204Val missense NM_001408432.1:c.608A>T NP_001395361.1:p.Asp203Val missense NM_001408433.1:c.608A>T NP_001395362.1:p.Asp203Val missense NM_001408434.1:c.608A>T NP_001395363.1:p.Asp203Val missense NM_001408435.1:c.608A>T NP_001395364.1:p.Asp203Val missense NM_001408436.1:c.611A>T NP_001395365.1:p.Asp204Val missense NM_001408437.1:c.611A>T NP_001395366.1:p.Asp204Val missense NM_001408438.1:c.611A>T NP_001395367.1:p.Asp204Val missense NM_001408439.1:c.611A>T NP_001395368.1:p.Asp204Val missense NM_001408440.1:c.611A>T NP_001395369.1:p.Asp204Val missense NM_001408441.1:c.611A>T NP_001395370.1:p.Asp204Val missense NM_001408442.1:c.611A>T NP_001395371.1:p.Asp204Val missense NM_001408443.1:c.611A>T NP_001395372.1:p.Asp204Val missense NM_001408444.1:c.611A>T NP_001395373.1:p.Asp204Val missense NM_001408445.1:c.608A>T NP_001395374.1:p.Asp203Val missense NM_001408446.1:c.608A>T NP_001395375.1:p.Asp203Val missense NM_001408447.1:c.608A>T NP_001395376.1:p.Asp203Val missense NM_001408448.1:c.608A>T NP_001395377.1:p.Asp203Val missense NM_001408450.1:c.608A>T NP_001395379.1:p.Asp203Val missense NM_001408451.1:c.599A>T NP_001395380.1:p.Asp200Val missense NM_001408452.1:c.593A>T NP_001395381.1:p.Asp198Val missense NM_001408453.1:c.593A>T NP_001395382.1:p.Asp198Val missense NM_001408454.1:c.593A>T NP_001395383.1:p.Asp198Val missense NM_001408455.1:c.593A>T NP_001395384.1:p.Asp198Val missense NM_001408456.1:c.593A>T NP_001395385.1:p.Asp198Val missense NM_001408457.1:c.593A>T NP_001395386.1:p.Asp198Val missense NM_001408458.1:c.593A>T NP_001395387.1:p.Asp198Val missense NM_001408459.1:c.593A>T NP_001395388.1:p.Asp198Val missense NM_001408460.1:c.593A>T NP_001395389.1:p.Asp198Val missense NM_001408461.1:c.593A>T NP_001395390.1:p.Asp198Val missense NM_001408462.1:c.590A>T NP_001395391.1:p.Asp197Val missense NM_001408463.1:c.590A>T NP_001395392.1:p.Asp197Val missense NM_001408464.1:c.590A>T NP_001395393.1:p.Asp197Val missense NM_001408465.1:c.590A>T NP_001395394.1:p.Asp197Val missense NM_001408466.1:c.593A>T NP_001395395.1:p.Asp198Val missense NM_001408467.1:c.593A>T NP_001395396.1:p.Asp198Val missense NM_001408468.1:c.590A>T NP_001395397.1:p.Asp197Val missense NM_001408469.1:c.593A>T NP_001395398.1:p.Asp198Val missense NM_001408470.1:c.590A>T NP_001395399.1:p.Asp197Val missense NM_001408472.1:c.734A>T NP_001395401.1:p.Asp245Val missense NM_001408473.1:c.731A>T NP_001395402.1:p.Asp244Val missense NM_001408474.1:c.533A>T NP_001395403.1:p.Asp178Val missense NM_001408475.1:c.530A>T NP_001395404.1:p.Asp177Val missense NM_001408476.1:c.533A>T NP_001395405.1:p.Asp178Val missense NM_001408478.1:c.524A>T NP_001395407.1:p.Asp175Val missense NM_001408479.1:c.524A>T NP_001395408.1:p.Asp175Val missense NM_001408480.1:c.524A>T NP_001395409.1:p.Asp175Val missense NM_001408481.1:c.524A>T NP_001395410.1:p.Asp175Val missense NM_001408482.1:c.524A>T NP_001395411.1:p.Asp175Val missense NM_001408483.1:c.524A>T NP_001395412.1:p.Asp175Val missense NM_001408484.1:c.524A>T NP_001395413.1:p.Asp175Val missense NM_001408485.1:c.524A>T NP_001395414.1:p.Asp175Val missense NM_001408489.1:c.524A>T NP_001395418.1:p.Asp175Val missense NM_001408490.1:c.521A>T NP_001395419.1:p.Asp174Val missense NM_001408491.1:c.521A>T NP_001395420.1:p.Asp174Val missense NM_001408492.1:c.524A>T NP_001395421.1:p.Asp175Val missense NM_001408493.1:c.521A>T NP_001395422.1:p.Asp174Val missense NM_001408496.1:c.470A>T NP_001395425.1:p.Asp157Val missense NM_001408497.1:c.470A>T NP_001395426.1:p.Asp157Val missense NM_001408498.1:c.470A>T NP_001395427.1:p.Asp157Val missense NM_001408499.1:c.470A>T NP_001395428.1:p.Asp157Val missense NM_001408500.1:c.470A>T NP_001395429.1:p.Asp157Val missense NM_001408501.1:c.470A>T NP_001395430.1:p.Asp157Val missense NM_001408502.1:c.401A>T NP_001395431.1:p.Asp134Val missense NM_001408503.1:c.467A>T NP_001395432.1:p.Asp156Val missense NM_001408504.1:c.467A>T NP_001395433.1:p.Asp156Val missense NM_001408505.1:c.467A>T NP_001395434.1:p.Asp156Val missense NM_001408508.1:c.398A>T NP_001395437.1:p.Asp133Val missense NM_001408509.1:c.398A>T NP_001395438.1:p.Asp133Val missense NM_001408510.1:c.353A>T NP_001395439.1:p.Asp118Val missense NM_001408512.1:c.230A>T NP_001395441.1:p.Asp77Val missense NM_001408513.1:c.524A>T NP_001395442.1:p.Asp175Val missense NM_001408514.1:c.524A>T NP_001395443.1:p.Asp175Val missense NM_007297.4:c.593A>T NP_009228.2:p.Asp198Val missense NM_007298.4:c.734A>T NP_009229.2:p.Asp245Val missense NM_007299.4:c.734A>T NP_009230.2:p.Asp245Val missense NM_007300.4:c.734A>T NP_009231.2:p.Asp245Val missense NM_007304.2:c.734A>T NP_009235.2:p.Asp245Val missense NR_027676.2:n.911A>T non-coding transcript variant NC_000017.11:g.43094797T>A NC_000017.10:g.41246814T>A NG_005905.2:g.123187A>T LRG_292:g.123187A>T LRG_292t1:c.734A>T LRG_292p1:p.Asp245Val P38398:p.Asp245Val U14680.1:n.853A>T - Protein change
- D245V, D198V, D133V, D175V, D200V, D218V, D219V, D117V, D118V, D156V, D157V, D244V, D134V, D174V, D177V, D197V, D203V, D242V, D178V, D204V, D77V
- Other names
- p.D245V:GAT>GTT
- Canonical SPDI
- NC_000017.11:43094796:T:A
-
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.
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
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 | ||
---|---|---|---|---|---|---|
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 |
12876 | 14661 |
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. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
Jan 8, 2024 | RCV000049112.14 | |
Uncertain significance (4) |
criteria provided, multiple submitters, no conflicts
|
Nov 20, 2023 | RCV000112778.6 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
|
Dec 20, 2023 | RCV000129392.15 | |
Uncertain significance (4) |
criteria provided, multiple submitters, no conflicts
|
Jun 1, 2023 | RCV000766561.11 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Jun 9, 2020 | RCV001201209.2 |
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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Uncertain significance
(Jun 09, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001372291.1
First in ClinVar: Jul 16, 2020 Last updated: Jul 16, 2020 |
Comment:
Variant summary: BRCA1 c.734A>T (p.Asp245Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging … (more)
Variant summary: BRCA1 c.734A>T (p.Asp245Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 250038 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.734A>T has been reported in the literature in patients with a family history or women diagnosed with breast or ovarian cancer (Jarhelle_2016, Wojcik_2016). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer Syndrome. In a cDNA-based functional assay, to classify the BRCA1 VUSs based on their ability of functionally complement BRCA1-deficient mouse embryonic stem cells, the variant was found to be neutral (Bouwman_2013). Five ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
|
|
Uncertain significance
(Dec 16, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000488015.2
First in ClinVar: Sep 24, 2016 Last updated: Dec 24, 2022 |
|
|
Uncertain significance
(Sep 22, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000210086.12
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; … (more)
Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Published functional studies demonstrate no damaging effect (Bouwman et al., 2013); Also known as 853A>T; Observed in individuals with a personal and/or family history of breast and/or ovarian cancer (Jarhelle et al., 2016; Wojcik et al., 2016; Foglietta et al., 2020); This variant is associated with the following publications: (PMID: 27495310, 26843898, 22703879, 32806537, 31131967, 9926942, 9582019, 9788437, 20215511, 23867111) (less)
|
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Likely benign
(Mar 23, 2023)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003847981.1
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
|
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
|
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Uncertain significance
(May 11, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001358887.3
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces aspartic acid with valine at codon 245 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant … (more)
This missense variant replaces aspartic acid with valine at codon 245 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). A functional study has shown this variant has neutral effect on DNA interstrand crosslink (ICL) repair (PMID: 23867111). This variant has been reported in multiple individuals affected with breast or ovarian cancer, as well as one unaffected individual (PMID: 26843898, 32806537, 33471991; LOVD DB-ID: BRCA1_001285) and an individual with family history of breast or ovarian cancer (PMID: 27495310). This variant has been identified in 3/250038 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
|
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Uncertain significance
(Jun 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600436.4
First in ClinVar: Jun 01, 2016 Last updated: Jan 06, 2024 |
Comment:
In the published literature, the variant has been reported in individuals with personal or family history of breast or ovarian cancer (PMID: 32806537 (2020), 27495310 … (more)
In the published literature, the variant has been reported in individuals with personal or family history of breast or ovarian cancer (PMID: 32806537 (2020), 27495310 (2016), 26843898 (2016), 25415331 (2014)). In a large-scale breast cancer association study, the variant was observed in individuals with breast cancer as well as in an unaffected individual (PMID: 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/BRCA1)). A functional study has reported that this variant does not have a deleterious effect on BRCA1 protein function (PMID: 23867111 (2013)). The frequency of this variant in the general population, 0.000027 (3/113104 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant. (less)
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Uncertain significance
(Jan 08, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000077125.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 245 of the BRCA1 protein … (more)
This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 245 of the BRCA1 protein (p.Asp245Val). This variant is present in population databases (rs80356865, gnomAD 0.003%). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 26843898, 27495310). ClinVar contains an entry for this variant (Variation ID: 55682). 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 with a negative predictive value of 95%. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 23867111). 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. (less)
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Uncertain Significance
(Nov 20, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004818416.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Comment:
This missense variant replaces aspartic acid with valine at codon 245 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant … (more)
This missense variant replaces aspartic acid with valine at codon 245 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Functional study has shown this variant has neutral effect on DNA interstrand crosslink (ICL) repair (PMID: 23867111). This variant has been reported in at least four individuals affected with breast or ovarian cancer and one unaffected individual (PMID: 26843898, 32806537, 33471991; Color internal data; LOVD DB-ID: BRCA1_001285) and an individual with family history of breast or ovarian cancer (PMID: 27495310). This variant has been identified in 3/250038 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Number of individuals with the variant: 4
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Uncertain significance
(Dec 20, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000184158.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The p.D245V variant (also known as c.734A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide … (more)
The p.D245V variant (also known as c.734A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 734. The aspartic acid at codon 245 is replaced by valine, an amino acid with highly dissimilar properties. This alteration has been identified in individuals with a personal or family history of breast and/or ovarian cancer (Wojcik P et al. Hered Cancer Clin Pract, 2016 Feb;14:5; Jarhelle E et al. Fam. Cancer, 2017 01;16:1-16; Foglietta J et al. Genes (Basel), 2020 08;11; Hovland HN et al. Fam Cancer, 2022 Oct;21:389-398; Boga I et al. Eur J Breast Health, 2023 Jul;19:235-252). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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Uncertain significance
(May 01, 2016)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Department of Medical Genetics, University Hospital of North Norway
Accession: SCV000301429.1
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Number of individuals with the variant: 1
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001951938.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Uncertain significance
(Jun 20, 2002)
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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:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145672.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001975134.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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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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A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey. | Boga I | European journal of breast health | 2023 | PMID: 37415649 |
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories. | Hovland HN | Familial cancer | 2022 | PMID: 34981296 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study. | Foglietta J | Genes | 2020 | PMID: 32806537 |
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 |
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. | Jarhelle E | Familial cancer | 2017 | PMID: 27495310 |
Actionable Genes, Core Databases, and Locus-Specific Databases. | Pinard A | Human mutation | 2016 | PMID: 27600092 |
Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland. | Wojcik P | Hereditary cancer in clinical practice | 2016 | PMID: 26843898 |
Clinical application of micronucleus test: a case-control study on the prediction of breast cancer risk/susceptibility. | Bolognesi C | PloS one | 2014 | PMID: 25415331 |
A high-throughput functional complementation assay for classification of BRCA1 missense variants. | Bouwman P | Cancer discovery | 2013 | PMID: 23867111 |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. | Johnston JJ | American journal of human genetics | 2012 | PMID: 22703879 |
Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning. | Mattocks CJ | Clinical chemistry | 2010 | PMID: 20167696 |
Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. | Pavlicek A | Human molecular genetics | 2004 | PMID: 15385441 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
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Text-mined citations for rs80356865 ...
HelpRecord last updated May 01, 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.