ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.75_80dup (p.Cys27_Leu28insIleCys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.75_80dup (p.Cys27_Leu28insIleCys)
Variation ID: 55692 Accession: VCV000055692.13
- Type and length
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Duplication, 6 bp
- Location
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Cytogenetic: 17q21.31 17: 43124016-43124017 (GRCh38) [ NCBI UCSC ] 17: 41276033-41276034 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Jan 25, 2018 May 1, 2024 Aug 17, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.75_80dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Cys27_Leu28insIleCys inframe insertion NM_001407571.1:c.-114_-109dup NM_001407581.1:c.75_80dup NP_001394510.1:p.Cys27_Leu28insIleCys inframe indel NM_001407582.1:c.75_80dup NP_001394511.1:p.Cys27_Leu28insIleCys inframe indel NM_001407583.1:c.75_80dup NP_001394512.1:p.Cys27_Leu28insIleCys inframe indel NM_001407585.1:c.75_80dup NP_001394514.1:p.Cys27_Leu28insIleCys inframe indel NM_001407587.1:c.75_80dup NP_001394516.1:p.Cys27_Leu28insIleCys inframe indel NM_001407590.1:c.75_80dup NP_001394519.1:p.Cys27_Leu28insIleCys inframe indel NM_001407591.1:c.75_80dup NP_001394520.1:p.Cys27_Leu28insIleCys inframe indel NM_001407593.1:c.75_80dup NP_001394522.1:p.Cys27_Leu28insIleCys inframe indel NM_001407594.1:c.75_80dup NP_001394523.1:p.Cys27_Leu28insIleCys inframe indel NM_001407596.1:c.75_80dup NP_001394525.1:p.Cys27_Leu28insIleCys inframe indel NM_001407597.1:c.75_80dup NP_001394526.1:p.Cys27_Leu28insIleCys inframe indel NM_001407598.1:c.75_80dup NP_001394527.1:p.Cys27_Leu28insIleCys inframe indel NM_001407602.1:c.75_80dup NP_001394531.1:p.Cys27_Leu28insIleCys inframe indel NM_001407603.1:c.75_80dup NP_001394532.1:p.Cys27_Leu28insIleCys inframe indel NM_001407605.1:c.75_80dup NP_001394534.1:p.Cys27_Leu28insIleCys inframe indel NM_001407610.1:c.75_80dup NP_001394539.1:p.Cys27_Leu28insIleCys inframe indel NM_001407611.1:c.75_80dup NP_001394540.1:p.Cys27_Leu28insIleCys inframe indel NM_001407612.1:c.75_80dup NP_001394541.1:p.Cys27_Leu28insIleCys inframe indel NM_001407613.1:c.75_80dup NP_001394542.1:p.Cys27_Leu28insIleCys inframe indel NM_001407614.1:c.75_80dup NP_001394543.1:p.Cys27_Leu28insIleCys inframe indel NM_001407615.1:c.75_80dup NP_001394544.1:p.Cys27_Leu28insIleCys inframe indel NM_001407616.1:c.75_80dup NP_001394545.1:p.Cys27_Leu28insIleCys inframe indel NM_001407617.1:c.75_80dup NP_001394546.1:p.Cys27_Leu28insIleCys inframe indel NM_001407618.1:c.75_80dup NP_001394547.1:p.Cys27_Leu28insIleCys inframe indel NM_001407619.1:c.75_80dup NP_001394548.1:p.Cys27_Leu28insIleCys inframe indel NM_001407620.1:c.75_80dup NP_001394549.1:p.Cys27_Leu28insIleCys inframe indel NM_001407621.1:c.75_80dup NP_001394550.1:p.Cys27_Leu28insIleCys inframe indel NM_001407622.1:c.75_80dup NP_001394551.1:p.Cys27_Leu28insIleCys inframe indel NM_001407623.1:c.75_80dup NP_001394552.1:p.Cys27_Leu28insIleCys inframe indel NM_001407624.1:c.75_80dup NP_001394553.1:p.Cys27_Leu28insIleCys inframe indel NM_001407625.1:c.75_80dup NP_001394554.1:p.Cys27_Leu28insIleCys inframe indel NM_001407626.1:c.75_80dup NP_001394555.1:p.Cys27_Leu28insIleCys inframe indel NM_001407627.1:c.75_80dup NP_001394556.1:p.Cys27_Leu28insIleCys inframe indel NM_001407628.1:c.75_80dup NP_001394557.1:p.Cys27_Leu28insIleCys inframe indel NM_001407629.1:c.75_80dup NP_001394558.1:p.Cys27_Leu28insIleCys inframe indel NM_001407630.1:c.75_80dup NP_001394559.1:p.Cys27_Leu28insIleCys inframe indel NM_001407631.1:c.75_80dup NP_001394560.1:p.Cys27_Leu28insIleCys inframe indel NM_001407632.1:c.75_80dup NP_001394561.1:p.Cys27_Leu28insIleCys inframe indel NM_001407633.1:c.75_80dup NP_001394562.1:p.Cys27_Leu28insIleCys inframe indel NM_001407634.1:c.75_80dup NP_001394563.1:p.Cys27_Leu28insIleCys inframe indel NM_001407635.1:c.75_80dup NP_001394564.1:p.Cys27_Leu28insIleCys inframe indel NM_001407636.1:c.75_80dup NP_001394565.1:p.Cys27_Leu28insIleCys inframe indel NM_001407637.1:c.75_80dup NP_001394566.1:p.Cys27_Leu28insIleCys inframe indel NM_001407638.1:c.75_80dup NP_001394567.1:p.Cys27_Leu28insIleCys inframe indel NM_001407639.1:c.75_80dup NP_001394568.1:p.Cys27_Leu28insIleCys inframe indel NM_001407640.1:c.75_80dup NP_001394569.1:p.Cys27_Leu28insIleCys inframe indel NM_001407641.1:c.75_80dup NP_001394570.1:p.Cys27_Leu28insIleCys inframe indel NM_001407642.1:c.75_80dup NP_001394571.1:p.Cys27_Leu28insIleCys inframe indel NM_001407644.1:c.75_80dup NP_001394573.1:p.Cys27_Leu28insIleCys inframe indel NM_001407645.1:c.75_80dup NP_001394574.1:p.Cys27_Leu28insIleCys inframe indel NM_001407646.1:c.75_80dup NP_001394575.1:p.Cys27_Leu28insIleCys inframe indel NM_001407647.1:c.75_80dup NP_001394576.1:p.Cys27_Leu28insIleCys inframe indel NM_001407648.1:c.75_80dup NP_001394577.1:p.Cys27_Leu28insIleCys inframe indel NM_001407649.1:c.75_80dup NP_001394578.1:p.Cys27_Leu28insIleCys inframe indel NM_001407652.1:c.75_80dup NP_001394581.1:p.Cys27_Leu28insIleCys inframe indel NM_001407653.1:c.75_80dup NP_001394582.1:p.Cys27_Leu28insIleCys inframe indel NM_001407654.1:c.75_80dup NP_001394583.1:p.Cys27_Leu28insIleCys inframe indel NM_001407655.1:c.75_80dup NP_001394584.1:p.Cys27_Leu28insIleCys inframe indel NM_001407656.1:c.75_80dup NP_001394585.1:p.Cys27_Leu28insIleCys inframe indel NM_001407657.1:c.75_80dup NP_001394586.1:p.Cys27_Leu28insIleCys inframe indel NM_001407658.1:c.75_80dup NP_001394587.1:p.Cys27_Leu28insIleCys inframe indel NM_001407659.1:c.75_80dup NP_001394588.1:p.Cys27_Leu28insIleCys inframe indel NM_001407660.1:c.75_80dup NP_001394589.1:p.Cys27_Leu28insIleCys inframe indel NM_001407661.1:c.75_80dup NP_001394590.1:p.Cys27_Leu28insIleCys inframe indel NM_001407662.1:c.75_80dup NP_001394591.1:p.Cys27_Leu28insIleCys inframe indel NM_001407663.1:c.75_80dup NP_001394592.1:p.Cys27_Leu28insIleCys inframe indel NM_001407664.1:c.75_80dup NP_001394593.1:p.Cys27_Leu28insIleCys inframe indel NM_001407665.1:c.75_80dup NP_001394594.1:p.Cys27_Leu28insIleCys inframe indel NM_001407666.1:c.75_80dup NP_001394595.1:p.Cys27_Leu28insIleCys inframe indel NM_001407667.1:c.75_80dup NP_001394596.1:p.Cys27_Leu28insIleCys inframe indel NM_001407668.1:c.75_80dup NP_001394597.1:p.Cys27_Leu28insIleCys inframe indel NM_001407669.1:c.75_80dup NP_001394598.1:p.Cys27_Leu28insIleCys inframe indel NM_001407670.1:c.75_80dup NP_001394599.1:p.Cys27_Leu28insIleCys inframe indel NM_001407671.1:c.75_80dup NP_001394600.1:p.Cys27_Leu28insIleCys inframe indel NM_001407672.1:c.75_80dup NP_001394601.1:p.Cys27_Leu28insIleCys inframe indel NM_001407673.1:c.75_80dup NP_001394602.1:p.Cys27_Leu28insIleCys inframe indel NM_001407674.1:c.75_80dup NP_001394603.1:p.Cys27_Leu28insIleCys inframe indel NM_001407675.1:c.75_80dup NP_001394604.1:p.Cys27_Leu28insIleCys inframe indel NM_001407676.1:c.75_80dup NP_001394605.1:p.Cys27_Leu28insIleCys inframe indel NM_001407677.1:c.75_80dup NP_001394606.1:p.Cys27_Leu28insIleCys inframe indel NM_001407678.1:c.75_80dup NP_001394607.1:p.Cys27_Leu28insIleCys inframe indel NM_001407679.1:c.75_80dup NP_001394608.1:p.Cys27_Leu28insIleCys inframe indel NM_001407680.1:c.75_80dup NP_001394609.1:p.Cys27_Leu28insIleCys inframe indel NM_001407681.1:c.75_80dup NP_001394610.1:p.Cys27_Leu28insIleCys inframe indel NM_001407682.1:c.75_80dup NP_001394611.1:p.Cys27_Leu28insIleCys inframe indel NM_001407683.1:c.75_80dup NP_001394612.1:p.Cys27_Leu28insIleCys inframe indel NM_001407684.1:c.75_80dup NP_001394613.1:p.Cys27_Leu28insIleCys inframe indel NM_001407685.1:c.75_80dup NP_001394614.1:p.Cys27_Leu28insIleCys inframe indel NM_001407686.1:c.75_80dup NP_001394615.1:p.Cys27_Leu28insIleCys inframe indel NM_001407687.1:c.75_80dup NP_001394616.1:p.Cys27_Leu28insIleCys inframe indel NM_001407688.1:c.75_80dup NP_001394617.1:p.Cys27_Leu28insIleCys inframe indel NM_001407689.1:c.75_80dup NP_001394618.1:p.Cys27_Leu28insIleCys inframe indel NM_001407690.1:c.75_80dup NP_001394619.1:p.Cys27_Leu28insIleCys inframe indel NM_001407691.1:c.75_80dup NP_001394620.1:p.Cys27_Leu28insIleCys inframe indel NM_001407694.1:c.-183_-178dup NM_001407695.1:c.-187_-182dup NM_001407696.1:c.-328_-323dup NM_001407697.1:c.-212_-207dup NM_001407698.1:c.-13_-8dup NM_001407724.1:c.-183_-178dup NM_001407725.1:c.-186_-181dup NM_001407726.1:c.-132_-127dup NM_001407727.1:c.-183_-178dup NM_001407730.1:c.-186_-181dup NM_001407731.1:c.-183_-178dup NM_001407732.1:c.-13_-8dup NM_001407733.1:c.-183_-178dup NM_001407734.1:c.-186_-181dup NM_001407736.1:c.-13_-8dup NM_001407738.1:c.-13_-8dup NM_001407739.1:c.-186_-181dup NM_001407740.1:c.-186_-181dup NM_001407741.1:c.-190_-185dup NM_001407742.1:c.-13_-8dup NM_001407744.1:c.-13_-8dup NM_001407748.1:c.-186_-181dup NM_001407749.1:c.-183_-178dup NM_001407750.1:c.-13_-8dup NM_001407751.1:c.-132_-127dup NM_001407752.1:c.-186_-181dup NM_001407838.1:c.-186_-181dup NM_001407841.1:c.-63_-58dup NM_001407842.1:c.-183_-178dup NM_001407843.1:c.-183_-178dup NM_001407845.1:c.-13_-8dup NM_001407846.1:c.-212_-207dup NM_001407847.1:c.-186_-181dup NM_001407849.1:c.-13_-8dup NM_001407850.1:c.-186_-181dup NM_001407852.1:c.-13_-8dup NM_001407853.1:c.-114_-109dup NM_001407854.1:c.75_80dup NP_001394783.1:p.Cys27_Leu28insIleCys inframe indel NM_001407858.1:c.75_80dup NP_001394787.1:p.Cys27_Leu28insIleCys inframe indel NM_001407859.1:c.75_80dup NP_001394788.1:p.Cys27_Leu28insIleCys inframe indel NM_001407860.1:c.75_80dup NP_001394789.1:p.Cys27_Leu28insIleCys inframe indel NM_001407861.1:c.75_80dup NP_001394790.1:p.Cys27_Leu28insIleCys inframe indel NM_001407862.1:c.75_80dup NP_001394791.1:p.Cys27_Leu28insIleCys inframe indel NM_001407863.1:c.75_80dup NP_001394792.1:p.Cys27_Leu28insIleCys inframe indel NM_001407874.1:c.75_80dup NP_001394803.1:p.Cys27_Leu28insIleCys inframe indel NM_001407875.1:c.75_80dup NP_001394804.1:p.Cys27_Leu28insIleCys inframe indel NM_001407879.1:c.-114_-109dup NM_001407881.1:c.-60_-55dup NM_001407882.1:c.-114_-109dup NM_001407884.1:c.-114_-109dup NM_001407886.1:c.-114_-109dup NM_001407887.1:c.-114_-109dup NM_001407889.1:c.-230_-225dup NM_001407894.1:c.-114_-109dup NM_001407895.1:c.-114_-109dup NM_001407897.1:c.-114_-109dup NM_001407898.1:c.-60_-55dup NM_001407899.1:c.-114_-109dup NM_001407902.1:c.-60_-55dup NM_001407904.1:c.-114_-109dup NM_001407906.1:c.-114_-109dup NM_001407907.1:c.-114_-109dup NM_001407908.1:c.-114_-109dup NM_001407909.1:c.-114_-109dup NM_001407910.1:c.-114_-109dup NM_001407915.1:c.-114_-109dup NM_001407916.1:c.-114_-109dup NM_001407917.1:c.-233_-228dup NM_001407918.1:c.-114_-109dup NM_001407919.1:c.75_80dup NP_001394848.1:p.Cys27_Leu28insIleCys inframe indel NM_001407920.1:c.-212_-207dup NM_001407921.1:c.-186_-181dup NM_001407923.1:c.-186_-181dup NM_001407924.1:c.-13_-8dup NM_001407925.1:c.-13_-8dup NM_001407927.1:c.-186_-181dup NM_001407928.1:c.-13_-8dup NM_001407929.1:c.-13_-8dup NM_001407930.1:c.-183_-178dup NM_001407932.1:c.-13_-8dup NM_001407933.1:c.-186_-181dup NM_001407934.1:c.-190_-185dup NM_001407936.1:c.-13_-8dup NM_001407937.1:c.75_80dup NP_001394866.1:p.Cys27_Leu28insIleCys inframe indel NM_001407938.1:c.75_80dup NP_001394867.1:p.Cys27_Leu28insIleCys inframe indel NM_001407939.1:c.75_80dup NP_001394868.1:p.Cys27_Leu28insIleCys inframe indel NM_001407940.1:c.75_80dup NP_001394869.1:p.Cys27_Leu28insIleCys inframe indel NM_001407941.1:c.75_80dup NP_001394870.1:p.Cys27_Leu28insIleCys inframe indel NM_001407942.1:c.-183_-178dup NM_001407943.1:c.-186_-181dup NM_001407944.1:c.-186_-181dup NM_001407945.1:c.-13_-8dup NM_001407946.1:c.-114_-109dup NM_001407947.1:c.-114_-109dup NM_001407948.1:c.-114_-109dup NM_001407949.1:c.-114_-109dup NM_001407950.1:c.-114_-109dup NM_001407951.1:c.-114_-109dup NM_001407952.1:c.-114_-109dup NM_001407953.1:c.-114_-109dup NM_001407954.1:c.-233_-228dup NM_001407955.1:c.-114_-109dup NM_001407956.1:c.-114_-109dup NM_001407957.1:c.-114_-109dup NM_001407958.1:c.-114_-109dup NM_001407965.1:c.-345_-340dup NM_001407968.1:c.75_80dup NP_001394897.1:p.Cys27_Leu28insIleCys inframe indel NM_001407969.1:c.75_80dup NP_001394898.1:p.Cys27_Leu28insIleCys inframe indel NM_001407970.1:c.75_80dup NP_001394899.1:p.Cys27_Leu28insIleCys inframe indel NM_001407971.1:c.75_80dup NP_001394900.1:p.Cys27_Leu28insIleCys inframe indel NM_001407972.1:c.75_80dup NP_001394901.1:p.Cys27_Leu28insIleCys inframe indel NM_001407973.1:c.75_80dup NP_001394902.1:p.Cys27_Leu28insIleCys inframe indel NM_001407974.1:c.75_80dup NP_001394903.1:p.Cys27_Leu28insIleCys inframe indel NM_001407975.1:c.75_80dup NP_001394904.1:p.Cys27_Leu28insIleCys inframe indel NM_001407976.1:c.75_80dup NP_001394905.1:p.Cys27_Leu28insIleCys inframe indel NM_001407977.1:c.75_80dup NP_001394906.1:p.Cys27_Leu28insIleCys inframe indel NM_001407978.1:c.75_80dup NP_001394907.1:p.Cys27_Leu28insIleCys inframe indel NM_001407979.1:c.75_80dup NP_001394908.1:p.Cys27_Leu28insIleCys inframe indel NM_001407980.1:c.75_80dup NP_001394909.1:p.Cys27_Leu28insIleCys inframe indel NM_001407981.1:c.75_80dup NP_001394910.1:p.Cys27_Leu28insIleCys inframe indel NM_001407982.1:c.75_80dup NP_001394911.1:p.Cys27_Leu28insIleCys inframe indel NM_001407983.1:c.75_80dup NP_001394912.1:p.Cys27_Leu28insIleCys inframe indel NM_001407984.1:c.75_80dup NP_001394913.1:p.Cys27_Leu28insIleCys inframe indel NM_001407985.1:c.75_80dup NP_001394914.1:p.Cys27_Leu28insIleCys inframe indel NM_001407986.1:c.75_80dup NP_001394915.1:p.Cys27_Leu28insIleCys inframe indel NM_001407990.1:c.75_80dup NP_001394919.1:p.Cys27_Leu28insIleCys inframe indel NM_001407991.1:c.75_80dup NP_001394920.1:p.Cys27_Leu28insIleCys inframe indel NM_001407992.1:c.75_80dup NP_001394921.1:p.Cys27_Leu28insIleCys inframe indel NM_001407993.1:c.75_80dup NP_001394922.1:p.Cys27_Leu28insIleCys inframe indel NM_001408392.1:c.75_80dup NP_001395321.1:p.Cys27_Leu28insIleCys inframe indel NM_001408396.1:c.75_80dup NP_001395325.1:p.Cys27_Leu28insIleCys inframe indel NM_001408397.1:c.75_80dup NP_001395326.1:p.Cys27_Leu28insIleCys inframe indel NM_001408398.1:c.75_80dup NP_001395327.1:p.Cys27_Leu28insIleCys inframe indel NM_001408399.1:c.75_80dup NP_001395328.1:p.Cys27_Leu28insIleCys inframe indel NM_001408400.1:c.75_80dup NP_001395329.1:p.Cys27_Leu28insIleCys inframe indel NM_001408401.1:c.75_80dup NP_001395330.1:p.Cys27_Leu28insIleCys inframe indel NM_001408402.1:c.75_80dup NP_001395331.1:p.Cys27_Leu28insIleCys inframe indel NM_001408403.1:c.75_80dup NP_001395332.1:p.Cys27_Leu28insIleCys inframe indel NM_001408404.1:c.75_80dup NP_001395333.1:p.Cys27_Leu28insIleCys inframe indel NM_001408406.1:c.75_80dup NP_001395335.1:p.Cys27_Leu28insIleCys inframe indel NM_001408407.1:c.75_80dup NP_001395336.1:p.Cys27_Leu28insIleCys inframe indel NM_001408408.1:c.75_80dup NP_001395337.1:p.Cys27_Leu28insIleCys inframe indel NM_001408409.1:c.75_80dup NP_001395338.1:p.Cys27_Leu28insIleCys inframe indel NM_001408410.1:c.-186_-181dup NM_001408411.1:c.75_80dup NP_001395340.1:p.Cys27_Leu28insIleCys inframe indel NM_001408412.1:c.75_80dup NP_001395341.1:p.Cys27_Leu28insIleCys inframe indel NM_001408413.1:c.75_80dup NP_001395342.1:p.Cys27_Leu28insIleCys inframe indel NM_001408414.1:c.75_80dup NP_001395343.1:p.Cys27_Leu28insIleCys inframe indel NM_001408415.1:c.75_80dup NP_001395344.1:p.Cys27_Leu28insIleCys inframe indel NM_001408416.1:c.75_80dup NP_001395345.1:p.Cys27_Leu28insIleCys inframe indel NM_001408418.1:c.75_80dup NP_001395347.1:p.Cys27_Leu28insIleCys inframe indel NM_001408419.1:c.75_80dup NP_001395348.1:p.Cys27_Leu28insIleCys inframe indel NM_001408420.1:c.75_80dup NP_001395349.1:p.Cys27_Leu28insIleCys inframe indel NM_001408421.1:c.75_80dup NP_001395350.1:p.Cys27_Leu28insIleCys inframe indel NM_001408422.1:c.75_80dup NP_001395351.1:p.Cys27_Leu28insIleCys inframe indel NM_001408423.1:c.75_80dup NP_001395352.1:p.Cys27_Leu28insIleCys inframe indel NM_001408424.1:c.75_80dup NP_001395353.1:p.Cys27_Leu28insIleCys inframe indel NM_001408425.1:c.75_80dup NP_001395354.1:p.Cys27_Leu28insIleCys inframe indel NM_001408426.1:c.75_80dup NP_001395355.1:p.Cys27_Leu28insIleCys inframe indel NM_001408427.1:c.75_80dup NP_001395356.1:p.Cys27_Leu28insIleCys inframe indel NM_001408428.1:c.75_80dup NP_001395357.1:p.Cys27_Leu28insIleCys inframe indel NM_001408429.1:c.75_80dup NP_001395358.1:p.Cys27_Leu28insIleCys inframe indel NM_001408430.1:c.75_80dup NP_001395359.1:p.Cys27_Leu28insIleCys inframe indel NM_001408431.1:c.75_80dup NP_001395360.1:p.Cys27_Leu28insIleCys inframe indel NM_001408432.1:c.75_80dup NP_001395361.1:p.Cys27_Leu28insIleCys inframe indel NM_001408433.1:c.75_80dup NP_001395362.1:p.Cys27_Leu28insIleCys inframe indel NM_001408434.1:c.75_80dup NP_001395363.1:p.Cys27_Leu28insIleCys inframe indel NM_001408435.1:c.75_80dup NP_001395364.1:p.Cys27_Leu28insIleCys inframe indel NM_001408436.1:c.75_80dup NP_001395365.1:p.Cys27_Leu28insIleCys inframe indel NM_001408437.1:c.75_80dup NP_001395366.1:p.Cys27_Leu28insIleCys inframe indel NM_001408438.1:c.75_80dup NP_001395367.1:p.Cys27_Leu28insIleCys inframe indel NM_001408439.1:c.75_80dup NP_001395368.1:p.Cys27_Leu28insIleCys inframe indel NM_001408440.1:c.75_80dup NP_001395369.1:p.Cys27_Leu28insIleCys inframe indel NM_001408441.1:c.75_80dup NP_001395370.1:p.Cys27_Leu28insIleCys inframe indel NM_001408442.1:c.75_80dup NP_001395371.1:p.Cys27_Leu28insIleCys inframe indel NM_001408443.1:c.75_80dup NP_001395372.1:p.Cys27_Leu28insIleCys inframe indel NM_001408444.1:c.75_80dup NP_001395373.1:p.Cys27_Leu28insIleCys inframe indel NM_001408445.1:c.75_80dup NP_001395374.1:p.Cys27_Leu28insIleCys inframe indel NM_001408446.1:c.75_80dup NP_001395375.1:p.Cys27_Leu28insIleCys inframe indel NM_001408447.1:c.75_80dup NP_001395376.1:p.Cys27_Leu28insIleCys inframe indel NM_001408448.1:c.75_80dup NP_001395377.1:p.Cys27_Leu28insIleCys inframe indel NM_001408450.1:c.75_80dup NP_001395379.1:p.Cys27_Leu28insIleCys inframe indel NM_001408451.1:c.75_80dup NP_001395380.1:p.Ile26_Trp27insCysIle inframe indel NM_001408452.1:c.-186_-181dup NM_001408454.1:c.-13_-8dup NM_001408455.1:c.-183_-178dup NM_001408456.1:c.-183_-178dup NM_001408459.1:c.-13_-8dup NM_001408460.1:c.-13_-8dup NM_001408461.1:c.-13_-8dup NM_001408462.1:c.-186_-181dup NM_001408463.1:c.-186_-181dup NM_001408464.1:c.-13_-8dup NM_001408465.1:c.-187_-182dup NM_001408466.1:c.-186_-181dup NM_001408467.1:c.-13_-8dup NM_001408468.1:c.-183_-178dup NM_001408472.1:c.75_80dup NP_001395401.1:p.Cys27_Leu28insIleCys inframe indel NM_001408473.1:c.75_80dup NP_001395402.1:p.Cys27_Leu28insIleCys inframe indel NM_001408474.1:c.75_80dup NP_001395403.1:p.Cys27_Leu28insIleCys inframe indel NM_001408475.1:c.75_80dup NP_001395404.1:p.Cys27_Leu28insIleCys inframe indel NM_001408476.1:c.75_80dup NP_001395405.1:p.Cys27_Leu28insIleCys inframe indel NM_001408478.1:c.-114_-109dup NM_001408479.1:c.-114_-109dup NM_001408480.1:c.-114_-109dup NM_001408481.1:c.-114_-109dup NM_001408482.1:c.-259_-254dup NM_001408483.1:c.-114_-109dup NM_001408484.1:c.-114_-109dup NM_001408485.1:c.-114_-109dup NM_001408489.1:c.-114_-109dup NM_001408490.1:c.-114_-109dup NM_001408491.1:c.-114_-109dup NM_001408492.1:c.-230_-225dup NM_001408493.1:c.-114_-109dup NM_001408494.1:c.75_80dup NP_001395423.1:p.Cys27_Leu28insIleCys inframe indel NM_001408495.1:c.75_80dup NP_001395424.1:p.Cys27_Leu28insIleCys inframe indel NM_001408496.1:c.-13_-8dup NM_001408497.1:c.-190_-185dup NM_001408498.1:c.-13_-8dup NM_001408499.1:c.-186_-181dup NM_001408500.1:c.-186_-181dup NM_001408501.1:c.-183_-178dup NM_001408502.1:c.-114_-109dup NM_001408503.1:c.-186_-181dup NM_001408504.1:c.-186_-181dup NM_001408506.1:c.-114_-109dup NM_001408507.1:c.-114_-109dup NM_001408508.1:c.-114_-109dup NM_001408509.1:c.-114_-109dup NM_001408513.1:c.-233_-228dup NM_001408514.1:c.-114_-109dup NM_007294.3:c.75_80dupCATCTG inframe indel NM_007297.4:c.-13_-8dup 5 prime UTR NM_007298.4:c.75_80dup NP_009229.2:p.Cys27_Leu28insIleCys inframe indel NM_007299.4:c.75_80dup NP_009230.2:p.Cys27_Leu28insIleCys inframe insertion NM_007300.4:c.75_80dup NP_009231.2:p.Cys27_Leu28insIleCys inframe insertion NM_007304.2:c.75_80dup NP_009235.2:p.Cys27_Leu28insIleCys inframe indel NR_027676.2:n.277_282dup non-coding transcript variant NC_000017.11:g.43124017_43124022dup NC_000017.10:g.41276034_41276039dup NG_005905.2:g.93962_93967dup LRG_292:g.93962_93967dup LRG_292t1:c.75_80dup LRG_292p1:p.Cys27_Leu28insIleCys - Protein change
- Other names
- -
- Canonical SPDI
- NC_000017.11:43124016:CAGATG:CAGATGCAGATG
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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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not provided (1) |
no classification provided
|
- | RCV000576916.9 | |
Uncertain significance (1) |
criteria provided, single submitter
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Aug 17, 2023 | RCV001303563.15 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jun 2, 2023 | RCV002390200.10 |
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 02, 2023)
|
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: SCV002672566.3
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.75_80dupCATCTG variant (also known as p.I26_C27dup), located in coding exon 1 of the BRCA1 gene, results from an in-frame duplication of CATCTG at nucleotide … (more)
The c.75_80dupCATCTG variant (also known as p.I26_C27dup), located in coding exon 1 of the BRCA1 gene, results from an in-frame duplication of CATCTG at nucleotide positions 75 to 80. This results in the duplication of 2 extra residues (IC) between codons 26 and 27. This amino acid region is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on internal structural analysis, this variant is predicted to be deleterious (Brzovic PS et al. Nat Struct Biol 2001 Oct;8(10):833-7). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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Uncertain significance
(Aug 17, 2023)
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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: SCV001492812.4
First in ClinVar: Mar 07, 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 55692). This variant has been observed in individual(s) with ovarian cancer (PMID: 10686936). This variant is not present in population databases (gnomAD no frequency). This variant, c.75_80dup, results in the insertion of 2 amino acid(s) of the BRCA1 protein (Splice site), but otherwise preserves the integrity of the reading frame. (less)
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not provided
(-)
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no classification provided
Method: literature only
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000679315.1
First in ClinVar: Jan 25, 2018 Last updated: Jan 25, 2018 |
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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
HelpText-mined citations for rs397509315 ...
HelpRecord last updated Oct 13, 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.