ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.45dup (p.Asn16Ter)
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.45dup (p.Asn16Ter)
Variation ID: 570400 Accession: VCV000570400.33
- Type and length
-
Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43124051-43124052 (GRCh38) [ NCBI UCSC ] 17: 41276068-41276069 (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 Oct 10, 2018 Feb 14, 2024 Nov 5, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.45dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn16Ter nonsense NM_001407571.1:c.-145dup NM_001407581.1:c.44dup NP_001394510.1:p.Asn16Terfs frameshift nonsense NM_001407582.1:c.44dup NP_001394511.1:p.Asn16Terfs frameshift nonsense NM_001407583.1:c.44dup NP_001394512.1:p.Asn16Terfs frameshift nonsense NM_001407585.1:c.44dup NP_001394514.1:p.Asn16Terfs frameshift nonsense NM_001407587.1:c.44dup NP_001394516.1:p.Asn16Terfs frameshift nonsense NM_001407590.1:c.44dup NP_001394519.1:p.Asn16Terfs frameshift nonsense NM_001407591.1:c.44dup NP_001394520.1:p.Asn16Terfs frameshift nonsense NM_001407593.1:c.44dup NP_001394522.1:p.Asn16Terfs frameshift nonsense NM_001407594.1:c.44dup NP_001394523.1:p.Asn16Terfs frameshift nonsense NM_001407596.1:c.44dup NP_001394525.1:p.Asn16Terfs frameshift nonsense NM_001407597.1:c.44dup NP_001394526.1:p.Asn16Terfs frameshift nonsense NM_001407598.1:c.44dup NP_001394527.1:p.Asn16Terfs frameshift nonsense NM_001407602.1:c.44dup NP_001394531.1:p.Asn16Terfs frameshift nonsense NM_001407603.1:c.44dup NP_001394532.1:p.Asn16Terfs frameshift nonsense NM_001407605.1:c.44dup NP_001394534.1:p.Asn16Terfs frameshift nonsense NM_001407610.1:c.44dup NP_001394539.1:p.Asn16Terfs frameshift nonsense NM_001407611.1:c.44dup NP_001394540.1:p.Asn16Terfs frameshift nonsense NM_001407612.1:c.44dup NP_001394541.1:p.Asn16Terfs frameshift nonsense NM_001407613.1:c.44dup NP_001394542.1:p.Asn16Terfs frameshift nonsense NM_001407614.1:c.44dup NP_001394543.1:p.Asn16Terfs frameshift nonsense NM_001407615.1:c.44dup NP_001394544.1:p.Asn16Terfs frameshift nonsense NM_001407616.1:c.44dup NP_001394545.1:p.Asn16Terfs frameshift nonsense NM_001407617.1:c.44dup NP_001394546.1:p.Asn16Terfs frameshift nonsense NM_001407618.1:c.44dup NP_001394547.1:p.Asn16Terfs frameshift nonsense NM_001407619.1:c.44dup NP_001394548.1:p.Asn16Terfs frameshift nonsense NM_001407620.1:c.44dup NP_001394549.1:p.Asn16Terfs frameshift nonsense NM_001407621.1:c.44dup NP_001394550.1:p.Asn16Terfs frameshift nonsense NM_001407622.1:c.44dup NP_001394551.1:p.Asn16Terfs frameshift nonsense NM_001407623.1:c.44dup NP_001394552.1:p.Asn16Terfs frameshift nonsense NM_001407624.1:c.44dup NP_001394553.1:p.Asn16Terfs frameshift nonsense NM_001407625.1:c.44dup NP_001394554.1:p.Asn16Terfs frameshift nonsense NM_001407626.1:c.44dup NP_001394555.1:p.Asn16Terfs frameshift nonsense NM_001407627.1:c.44dup NP_001394556.1:p.Asn16Terfs frameshift nonsense NM_001407628.1:c.44dup NP_001394557.1:p.Asn16Terfs frameshift nonsense NM_001407629.1:c.44dup NP_001394558.1:p.Asn16Terfs frameshift nonsense NM_001407630.1:c.44dup NP_001394559.1:p.Asn16Terfs frameshift nonsense NM_001407631.1:c.44dup NP_001394560.1:p.Asn16Terfs frameshift nonsense NM_001407632.1:c.44dup NP_001394561.1:p.Asn16Terfs frameshift nonsense NM_001407633.1:c.44dup NP_001394562.1:p.Asn16Terfs frameshift nonsense NM_001407634.1:c.44dup NP_001394563.1:p.Asn16Terfs frameshift nonsense NM_001407635.1:c.44dup NP_001394564.1:p.Asn16Terfs frameshift nonsense NM_001407636.1:c.44dup NP_001394565.1:p.Asn16Terfs frameshift nonsense NM_001407637.1:c.44dup NP_001394566.1:p.Asn16Terfs frameshift nonsense NM_001407638.1:c.44dup NP_001394567.1:p.Asn16Terfs frameshift nonsense NM_001407639.1:c.44dup NP_001394568.1:p.Asn16Terfs frameshift nonsense NM_001407640.1:c.44dup NP_001394569.1:p.Asn16Terfs frameshift nonsense NM_001407641.1:c.44dup NP_001394570.1:p.Asn16Terfs frameshift nonsense NM_001407642.1:c.44dup NP_001394571.1:p.Asn16Terfs frameshift nonsense NM_001407644.1:c.44dup NP_001394573.1:p.Asn16Terfs frameshift nonsense NM_001407645.1:c.44dup NP_001394574.1:p.Asn16Terfs frameshift nonsense NM_001407646.1:c.44dup NP_001394575.1:p.Asn16Terfs frameshift nonsense NM_001407647.1:c.44dup NP_001394576.1:p.Asn16Terfs frameshift nonsense NM_001407648.1:c.44dup NP_001394577.1:p.Asn16Terfs frameshift nonsense NM_001407649.1:c.44dup NP_001394578.1:p.Asn16Terfs frameshift nonsense NM_001407652.1:c.44dup NP_001394581.1:p.Asn16Terfs frameshift nonsense NM_001407653.1:c.44dup NP_001394582.1:p.Asn16Terfs frameshift nonsense NM_001407654.1:c.44dup NP_001394583.1:p.Asn16Terfs frameshift nonsense NM_001407655.1:c.44dup NP_001394584.1:p.Asn16Terfs frameshift nonsense NM_001407656.1:c.44dup NP_001394585.1:p.Asn16Terfs frameshift nonsense NM_001407657.1:c.44dup NP_001394586.1:p.Asn16Terfs frameshift nonsense NM_001407658.1:c.44dup NP_001394587.1:p.Asn16Terfs frameshift nonsense NM_001407659.1:c.44dup NP_001394588.1:p.Asn16Terfs frameshift nonsense NM_001407660.1:c.44dup NP_001394589.1:p.Asn16Terfs frameshift nonsense NM_001407661.1:c.44dup NP_001394590.1:p.Asn16Terfs frameshift nonsense NM_001407662.1:c.44dup NP_001394591.1:p.Asn16Terfs frameshift nonsense NM_001407663.1:c.44dup NP_001394592.1:p.Asn16Terfs frameshift nonsense NM_001407664.1:c.44dup NP_001394593.1:p.Asn16Terfs frameshift nonsense NM_001407665.1:c.44dup NP_001394594.1:p.Asn16Terfs frameshift nonsense NM_001407666.1:c.44dup NP_001394595.1:p.Asn16Terfs frameshift nonsense NM_001407667.1:c.44dup NP_001394596.1:p.Asn16Terfs frameshift nonsense NM_001407668.1:c.44dup NP_001394597.1:p.Asn16Terfs frameshift nonsense NM_001407669.1:c.44dup NP_001394598.1:p.Asn16Terfs frameshift nonsense NM_001407670.1:c.44dup NP_001394599.1:p.Asn16Terfs frameshift nonsense NM_001407671.1:c.44dup NP_001394600.1:p.Asn16Terfs frameshift nonsense NM_001407672.1:c.44dup NP_001394601.1:p.Asn16Terfs frameshift nonsense NM_001407673.1:c.44dup NP_001394602.1:p.Asn16Terfs frameshift nonsense NM_001407674.1:c.44dup NP_001394603.1:p.Asn16Terfs frameshift nonsense NM_001407675.1:c.44dup NP_001394604.1:p.Asn16Terfs frameshift nonsense NM_001407676.1:c.44dup NP_001394605.1:p.Asn16Terfs frameshift nonsense NM_001407677.1:c.44dup NP_001394606.1:p.Asn16Terfs frameshift nonsense NM_001407678.1:c.44dup NP_001394607.1:p.Asn16Terfs frameshift nonsense NM_001407679.1:c.44dup NP_001394608.1:p.Asn16Terfs frameshift nonsense NM_001407680.1:c.44dup NP_001394609.1:p.Asn16Terfs frameshift nonsense NM_001407681.1:c.44dup NP_001394610.1:p.Asn16Terfs frameshift nonsense NM_001407682.1:c.44dup NP_001394611.1:p.Asn16Terfs frameshift nonsense NM_001407683.1:c.44dup NP_001394612.1:p.Asn16Terfs frameshift nonsense NM_001407684.1:c.44dup NP_001394613.1:p.Asn16Terfs frameshift nonsense NM_001407685.1:c.44dup NP_001394614.1:p.Asn16Terfs frameshift nonsense NM_001407686.1:c.44dup NP_001394615.1:p.Asn16Terfs frameshift nonsense NM_001407687.1:c.44dup NP_001394616.1:p.Asn16Terfs frameshift nonsense NM_001407688.1:c.44dup NP_001394617.1:p.Asn16Terfs frameshift nonsense NM_001407689.1:c.44dup NP_001394618.1:p.Asn16Terfs frameshift nonsense NM_001407690.1:c.44dup NP_001394619.1:p.Asn16Terfs frameshift nonsense NM_001407691.1:c.44dup NP_001394620.1:p.Asn16Terfs frameshift nonsense NM_001407694.1:c.-214dup NM_001407695.1:c.-218dup NM_001407696.1:c.-359dup NM_001407697.1:c.-243dup NM_001407698.1:c.-44dup NM_001407724.1:c.-214dup NM_001407725.1:c.-217dup NM_001407726.1:c.-163dup NM_001407727.1:c.-214dup NM_001407730.1:c.-217dup NM_001407731.1:c.-214dup NM_001407732.1:c.-44dup NM_001407733.1:c.-214dup NM_001407734.1:c.-217dup NM_001407736.1:c.-44dup NM_001407738.1:c.-44dup NM_001407739.1:c.-217dup NM_001407740.1:c.-217dup NM_001407741.1:c.-221dup NM_001407742.1:c.-44dup NM_001407744.1:c.-44dup NM_001407748.1:c.-217dup NM_001407749.1:c.-214dup NM_001407750.1:c.-44dup NM_001407751.1:c.-163dup NM_001407752.1:c.-217dup NM_001407838.1:c.-217dup NM_001407841.1:c.-94dup NM_001407842.1:c.-214dup NM_001407843.1:c.-214dup NM_001407845.1:c.-44dup NM_001407846.1:c.-243dup NM_001407847.1:c.-217dup NM_001407849.1:c.-44dup NM_001407850.1:c.-217dup NM_001407852.1:c.-44dup NM_001407853.1:c.-145dup NM_001407854.1:c.44dup NP_001394783.1:p.Asn16Terfs frameshift nonsense NM_001407858.1:c.44dup NP_001394787.1:p.Asn16Terfs frameshift nonsense NM_001407859.1:c.44dup NP_001394788.1:p.Asn16Terfs frameshift nonsense NM_001407860.1:c.44dup NP_001394789.1:p.Asn16Terfs frameshift nonsense NM_001407861.1:c.44dup NP_001394790.1:p.Asn16Terfs frameshift nonsense NM_001407862.1:c.44dup NP_001394791.1:p.Asn16Terfs frameshift nonsense NM_001407863.1:c.44dup NP_001394792.1:p.Asn16Terfs frameshift nonsense NM_001407874.1:c.44dup NP_001394803.1:p.Asn16Terfs frameshift nonsense NM_001407875.1:c.44dup NP_001394804.1:p.Asn16Terfs frameshift nonsense NM_001407879.1:c.-145dup NM_001407881.1:c.-91dup NM_001407882.1:c.-145dup NM_001407884.1:c.-145dup NM_001407886.1:c.-145dup NM_001407887.1:c.-145dup NM_001407889.1:c.-261dup NM_001407894.1:c.-145dup NM_001407895.1:c.-145dup NM_001407897.1:c.-145dup NM_001407898.1:c.-91dup NM_001407899.1:c.-145dup NM_001407902.1:c.-91dup NM_001407904.1:c.-145dup NM_001407906.1:c.-145dup NM_001407907.1:c.-145dup NM_001407908.1:c.-145dup NM_001407909.1:c.-145dup NM_001407910.1:c.-145dup NM_001407915.1:c.-145dup NM_001407916.1:c.-145dup NM_001407917.1:c.-264dup NM_001407918.1:c.-145dup NM_001407919.1:c.44dup NP_001394848.1:p.Asn16Terfs frameshift nonsense NM_001407920.1:c.-243dup NM_001407921.1:c.-217dup NM_001407923.1:c.-217dup NM_001407924.1:c.-44dup NM_001407925.1:c.-44dup NM_001407927.1:c.-217dup NM_001407928.1:c.-44dup NM_001407929.1:c.-44dup NM_001407930.1:c.-214dup NM_001407932.1:c.-44dup NM_001407933.1:c.-217dup NM_001407934.1:c.-221dup NM_001407936.1:c.-44dup NM_001407937.1:c.44dup NP_001394866.1:p.Asn16Terfs frameshift nonsense NM_001407938.1:c.44dup NP_001394867.1:p.Asn16Terfs frameshift nonsense NM_001407939.1:c.44dup NP_001394868.1:p.Asn16Terfs frameshift nonsense NM_001407940.1:c.44dup NP_001394869.1:p.Asn16Terfs frameshift nonsense NM_001407941.1:c.44dup NP_001394870.1:p.Asn16Terfs frameshift nonsense NM_001407942.1:c.-214dup NM_001407943.1:c.-217dup NM_001407944.1:c.-217dup NM_001407945.1:c.-44dup NM_001407946.1:c.-145dup NM_001407947.1:c.-145dup NM_001407948.1:c.-145dup NM_001407949.1:c.-145dup NM_001407950.1:c.-145dup NM_001407951.1:c.-145dup NM_001407952.1:c.-145dup NM_001407953.1:c.-145dup NM_001407954.1:c.-264dup NM_001407955.1:c.-145dup NM_001407956.1:c.-145dup NM_001407957.1:c.-145dup NM_001407958.1:c.-145dup NM_001407965.1:c.-376dup NM_001407968.1:c.44dup NP_001394897.1:p.Asn16Terfs frameshift nonsense NM_001407969.1:c.44dup NP_001394898.1:p.Asn16Terfs frameshift nonsense NM_001407970.1:c.44dup NP_001394899.1:p.Asn16Terfs frameshift nonsense NM_001407971.1:c.44dup NP_001394900.1:p.Asn16Terfs frameshift nonsense NM_001407972.1:c.44dup NP_001394901.1:p.Asn16Terfs frameshift nonsense NM_001407973.1:c.44dup NP_001394902.1:p.Asn16Terfs frameshift nonsense NM_001407974.1:c.44dup NP_001394903.1:p.Asn16Terfs frameshift nonsense NM_001407975.1:c.44dup NP_001394904.1:p.Asn16Terfs frameshift nonsense NM_001407976.1:c.44dup NP_001394905.1:p.Asn16Terfs frameshift nonsense NM_001407977.1:c.44dup NP_001394906.1:p.Asn16Terfs frameshift nonsense NM_001407978.1:c.44dup NP_001394907.1:p.Asn16Terfs frameshift nonsense NM_001407979.1:c.44dup NP_001394908.1:p.Asn16Terfs frameshift nonsense NM_001407980.1:c.44dup NP_001394909.1:p.Asn16Terfs frameshift nonsense NM_001407981.1:c.44dup NP_001394910.1:p.Asn16Terfs frameshift nonsense NM_001407982.1:c.44dup NP_001394911.1:p.Asn16Terfs frameshift nonsense NM_001407983.1:c.44dup NP_001394912.1:p.Asn16Terfs frameshift nonsense NM_001407984.1:c.44dup NP_001394913.1:p.Asn16Terfs frameshift nonsense NM_001407985.1:c.44dup NP_001394914.1:p.Asn16Terfs frameshift nonsense NM_001407986.1:c.44dup NP_001394915.1:p.Asn16Terfs frameshift nonsense NM_001407990.1:c.44dup NP_001394919.1:p.Asn16Terfs frameshift nonsense NM_001407991.1:c.44dup NP_001394920.1:p.Asn16Terfs frameshift nonsense NM_001407992.1:c.44dup NP_001394921.1:p.Asn16Terfs frameshift nonsense NM_001407993.1:c.44dup NP_001394922.1:p.Asn16Terfs frameshift nonsense NM_001408392.1:c.44dup NP_001395321.1:p.Asn16Terfs frameshift nonsense NM_001408396.1:c.44dup NP_001395325.1:p.Asn16Terfs frameshift nonsense NM_001408397.1:c.44dup NP_001395326.1:p.Asn16Terfs frameshift nonsense NM_001408398.1:c.44dup NP_001395327.1:p.Asn16Terfs frameshift nonsense NM_001408399.1:c.44dup NP_001395328.1:p.Asn16Terfs frameshift nonsense NM_001408400.1:c.44dup NP_001395329.1:p.Asn16Terfs frameshift nonsense NM_001408401.1:c.44dup NP_001395330.1:p.Asn16Terfs frameshift nonsense NM_001408402.1:c.44dup NP_001395331.1:p.Asn16Terfs frameshift nonsense NM_001408403.1:c.44dup NP_001395332.1:p.Asn16Terfs frameshift nonsense NM_001408404.1:c.44dup NP_001395333.1:p.Asn16Terfs frameshift nonsense NM_001408406.1:c.44dup NP_001395335.1:p.Asn16Terfs frameshift nonsense NM_001408407.1:c.44dup NP_001395336.1:p.Asn16Terfs frameshift nonsense NM_001408408.1:c.44dup NP_001395337.1:p.Asn16Terfs frameshift nonsense NM_001408409.1:c.44dup NP_001395338.1:p.Asn16Terfs frameshift nonsense NM_001408410.1:c.-217dup NM_001408411.1:c.44dup NP_001395340.1:p.Asn16Terfs frameshift nonsense NM_001408412.1:c.44dup NP_001395341.1:p.Asn16Terfs frameshift nonsense NM_001408413.1:c.44dup NP_001395342.1:p.Asn16Terfs frameshift nonsense NM_001408414.1:c.44dup NP_001395343.1:p.Asn16Terfs frameshift nonsense NM_001408415.1:c.44dup NP_001395344.1:p.Asn16Terfs frameshift nonsense NM_001408416.1:c.44dup NP_001395345.1:p.Asn16Terfs frameshift nonsense NM_001408418.1:c.44dup NP_001395347.1:p.Asn16Terfs frameshift nonsense NM_001408419.1:c.44dup NP_001395348.1:p.Asn16Terfs frameshift nonsense NM_001408420.1:c.44dup NP_001395349.1:p.Asn16Terfs frameshift nonsense NM_001408421.1:c.44dup NP_001395350.1:p.Asn16Terfs frameshift nonsense NM_001408422.1:c.44dup NP_001395351.1:p.Asn16Terfs frameshift nonsense NM_001408423.1:c.44dup NP_001395352.1:p.Asn16Terfs frameshift nonsense NM_001408424.1:c.44dup NP_001395353.1:p.Asn16Terfs frameshift nonsense NM_001408425.1:c.44dup NP_001395354.1:p.Asn16Terfs frameshift nonsense NM_001408426.1:c.44dup NP_001395355.1:p.Asn16Terfs frameshift nonsense NM_001408427.1:c.44dup NP_001395356.1:p.Asn16Terfs frameshift nonsense NM_001408428.1:c.44dup NP_001395357.1:p.Asn16Terfs frameshift nonsense NM_001408429.1:c.44dup NP_001395358.1:p.Asn16Terfs frameshift nonsense NM_001408430.1:c.44dup NP_001395359.1:p.Asn16Terfs frameshift nonsense NM_001408431.1:c.44dup NP_001395360.1:p.Asn16Terfs frameshift nonsense NM_001408432.1:c.44dup NP_001395361.1:p.Asn16Terfs frameshift nonsense NM_001408433.1:c.44dup NP_001395362.1:p.Asn16Terfs frameshift nonsense NM_001408434.1:c.44dup NP_001395363.1:p.Asn16Terfs frameshift nonsense NM_001408435.1:c.44dup NP_001395364.1:p.Asn16Terfs frameshift nonsense NM_001408436.1:c.44dup NP_001395365.1:p.Asn16Terfs frameshift nonsense NM_001408437.1:c.44dup NP_001395366.1:p.Asn16Terfs frameshift nonsense NM_001408438.1:c.44dup NP_001395367.1:p.Asn16Terfs frameshift nonsense NM_001408439.1:c.44dup NP_001395368.1:p.Asn16Terfs frameshift nonsense NM_001408440.1:c.44dup NP_001395369.1:p.Asn16Terfs frameshift nonsense NM_001408441.1:c.44dup NP_001395370.1:p.Asn16Terfs frameshift nonsense NM_001408442.1:c.44dup NP_001395371.1:p.Asn16Terfs frameshift nonsense NM_001408443.1:c.44dup NP_001395372.1:p.Asn16Terfs frameshift nonsense NM_001408444.1:c.44dup NP_001395373.1:p.Asn16Terfs frameshift nonsense NM_001408445.1:c.44dup NP_001395374.1:p.Asn16Terfs frameshift nonsense NM_001408446.1:c.44dup NP_001395375.1:p.Asn16Terfs frameshift nonsense NM_001408447.1:c.44dup NP_001395376.1:p.Asn16Terfs frameshift nonsense NM_001408448.1:c.44dup NP_001395377.1:p.Asn16Terfs frameshift nonsense NM_001408450.1:c.44dup NP_001395379.1:p.Asn16Terfs frameshift nonsense NM_001408451.1:c.44dup NP_001395380.1:p.Asn16Terfs frameshift nonsense NM_001408452.1:c.-217dup NM_001408454.1:c.-44dup NM_001408455.1:c.-214dup NM_001408456.1:c.-214dup NM_001408459.1:c.-44dup NM_001408460.1:c.-44dup NM_001408461.1:c.-44dup NM_001408462.1:c.-217dup NM_001408463.1:c.-217dup NM_001408464.1:c.-44dup NM_001408465.1:c.-218dup NM_001408466.1:c.-217dup NM_001408467.1:c.-44dup NM_001408468.1:c.-214dup NM_001408472.1:c.44dup NP_001395401.1:p.Asn16Terfs frameshift nonsense NM_001408473.1:c.44dup NP_001395402.1:p.Asn16Terfs frameshift nonsense NM_001408474.1:c.44dup NP_001395403.1:p.Asn16Terfs frameshift nonsense NM_001408475.1:c.44dup NP_001395404.1:p.Asn16Terfs frameshift nonsense NM_001408476.1:c.44dup NP_001395405.1:p.Asn16Terfs frameshift nonsense NM_001408478.1:c.-145dup NM_001408479.1:c.-145dup NM_001408480.1:c.-145dup NM_001408481.1:c.-145dup NM_001408482.1:c.-290dup NM_001408483.1:c.-145dup NM_001408484.1:c.-145dup NM_001408485.1:c.-145dup NM_001408489.1:c.-145dup NM_001408490.1:c.-145dup NM_001408491.1:c.-145dup NM_001408492.1:c.-261dup NM_001408493.1:c.-145dup NM_001408494.1:c.44dup NP_001395423.1:p.Asn16Terfs frameshift nonsense NM_001408495.1:c.44dup NP_001395424.1:p.Asn16Terfs frameshift nonsense NM_001408496.1:c.-44dup NM_001408497.1:c.-221dup NM_001408498.1:c.-44dup NM_001408499.1:c.-217dup NM_001408500.1:c.-217dup NM_001408501.1:c.-214dup NM_001408502.1:c.-145dup NM_001408503.1:c.-217dup NM_001408504.1:c.-217dup NM_001408506.1:c.-145dup NM_001408507.1:c.-145dup NM_001408508.1:c.-145dup NM_001408509.1:c.-145dup NM_001408513.1:c.-264dup NM_001408514.1:c.-145dup NM_007294.3:c.45dup NP_009225.1:p.Asn16Ter frameshift nonsense NM_007294.3:c.45dupT frameshift nonsense NM_007297.4:c.-43dup 5 prime UTR NM_007298.4:c.44dup NP_009229.2:p.Asn16Terfs frameshift nonsense NM_007299.4:c.45dup NP_009230.2:p.Asn16Ter nonsense NM_007300.4:c.45dup NP_009231.2:p.Asn16Ter nonsense NM_007304.2:c.44dup NP_009235.2:p.Asn16Terfs frameshift nonsense NR_027676.2:n.247dup non-coding transcript variant NC_000017.11:g.43124053dup NC_000017.10:g.41276070dup NG_005905.2:g.93932dup LRG_292:g.93932dup LRG_292t1:c.44dup LRG_292p1:p.Asn16Terfs - Protein change
- N16*
- Other names
- NP_009225.1:p.Asn16Ter
- Canonical SPDI
- NC_000017.11:43124051:AA:AAA
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
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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Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Nov 5, 2023 | RCV000691259.18 | |
Pathogenic (1) |
no assertion criteria provided
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Mar 2, 2020 | RCV003493705.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Nov 16, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
Accession: SCV002026051.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 3
Geographic origin: South Africa
Testing laboratory: National Health Laboratory Service (NHLS)
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Pathogenic
(Dec 19, 2022)
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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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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002819671.1
First in ClinVar: Jan 15, 2023 Last updated: Jan 15, 2023 |
Comment:
Variant summary: BRCA1 c.45dupT (p.Asn16X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.45dupT (p.Asn16X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251110 control chromosomes. c.45dupT has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (Seymour_2016, Gardiner_2019, Van der Merwe_2022). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, and both classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jul 01, 2023)
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criteria provided, single submitter
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
Accession: SCV004034094.1
First in ClinVar: Sep 16, 2023 Last updated: Sep 16, 2023 |
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Pathogenic
(Nov 05, 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: SCV000819011.7
First in ClinVar: Oct 10, 2018 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Asn16*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Asn16*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 570400). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 02, 2020)
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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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BRCAlab, Lund University
Accession: SCV004244207.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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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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Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience. | Van der Merwe NC | Frontiers in genetics | 2022 | DOI: 10.3389/fgene.2022.834265 |
Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience. | Van der Merwe NC | Frontiers in genetics | 2022 | PMID: 35464868 |
New recurring BRCA1 variant: An additional South African founder mutation? | Gardiner SA | South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde | 2019 | PMID: 31456542 |
Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient? | Seymour HJ | South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde | 2016 | PMID: 26915939 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs730881457 ...
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.