This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4231del (p.Met1411fs)
Germline
Classification
Help
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.
(1)
Help
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.
Pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4231del (p.Met1411fs)
Variation ID: 2573305 Accession: VCV002573305.1
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43082530 (GRCh38) [ NCBI UCSC ] 17: 41234547 (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 Jul 29, 2023 Jul 29, 2023 Mar 1, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4231del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Met1411fs frameshift NM_001407571.1:c.4018del NP_001394500.1:p.Met1340fs frameshift NM_001407581.1:c.4231del NP_001394510.1:p.Met1411fs frameshift NM_001407582.1:c.4231del NP_001394511.1:p.Met1411fs frameshift NM_001407583.1:c.4231del NP_001394512.1:p.Met1411fs frameshift NM_001407585.1:c.4231del NP_001394514.1:p.Met1411fs frameshift NM_001407587.1:c.4228del NP_001394516.1:p.Met1410fs frameshift NM_001407590.1:c.4228del NP_001394519.1:p.Met1410fs frameshift NM_001407591.1:c.4228del NP_001394520.1:p.Met1410fs frameshift NM_001407593.1:c.4231del NP_001394522.1:p.Met1411fs frameshift NM_001407594.1:c.4231del NP_001394523.1:p.Met1411fs frameshift NM_001407596.1:c.4231del NP_001394525.1:p.Met1411fs frameshift NM_001407597.1:c.4231del NP_001394526.1:p.Met1411fs frameshift NM_001407598.1:c.4231del NP_001394527.1:p.Met1411fs frameshift NM_001407602.1:c.4231del NP_001394531.1:p.Met1411fs frameshift NM_001407603.1:c.4231del NP_001394532.1:p.Met1411fs frameshift NM_001407605.1:c.4231del NP_001394534.1:p.Met1411fs frameshift NM_001407610.1:c.4228del NP_001394539.1:p.Met1410fs frameshift NM_001407611.1:c.4228del NP_001394540.1:p.Met1410fs frameshift NM_001407612.1:c.4228del NP_001394541.1:p.Met1410fs frameshift NM_001407613.1:c.4228del NP_001394542.1:p.Met1410fs frameshift NM_001407614.1:c.4228del NP_001394543.1:p.Met1410fs frameshift NM_001407615.1:c.4228del NP_001394544.1:p.Met1410fs frameshift NM_001407616.1:c.4231del NP_001394545.1:p.Met1411fs frameshift NM_001407617.1:c.4231del NP_001394546.1:p.Met1411fs frameshift NM_001407618.1:c.4231del NP_001394547.1:p.Met1411fs frameshift NM_001407619.1:c.4231del NP_001394548.1:p.Met1411fs frameshift NM_001407620.1:c.4231del NP_001394549.1:p.Met1411fs frameshift NM_001407621.1:c.4231del NP_001394550.1:p.Met1411fs frameshift NM_001407622.1:c.4231del NP_001394551.1:p.Met1411fs frameshift NM_001407623.1:c.4231del NP_001394552.1:p.Met1411fs frameshift NM_001407624.1:c.4228del NP_001394553.1:p.Met1410fs frameshift NM_001407625.1:c.4228del NP_001394554.1:p.Met1410fs frameshift NM_001407626.1:c.4228del NP_001394555.1:p.Met1410fs frameshift NM_001407627.1:c.4225del NP_001394556.1:p.Met1409fs frameshift NM_001407628.1:c.4225del NP_001394557.1:p.Met1409fs frameshift NM_001407629.1:c.4225del NP_001394558.1:p.Met1409fs frameshift NM_001407630.1:c.4225del NP_001394559.1:p.Met1409fs frameshift NM_001407631.1:c.4225del NP_001394560.1:p.Met1409fs frameshift NM_001407632.1:c.4225del NP_001394561.1:p.Met1409fs frameshift NM_001407633.1:c.4228del NP_001394562.1:p.Met1410fs frameshift NM_001407634.1:c.4228del NP_001394563.1:p.Met1410fs frameshift NM_001407635.1:c.4228del NP_001394564.1:p.Met1410fs frameshift NM_001407636.1:c.4228del NP_001394565.1:p.Met1410fs frameshift NM_001407637.1:c.4228del NP_001394566.1:p.Met1410fs frameshift NM_001407638.1:c.4228del NP_001394567.1:p.Met1410fs frameshift NM_001407639.1:c.4228del NP_001394568.1:p.Met1410fs frameshift NM_001407640.1:c.4228del NP_001394569.1:p.Met1410fs frameshift NM_001407641.1:c.4228del NP_001394570.1:p.Met1410fs frameshift NM_001407642.1:c.4228del NP_001394571.1:p.Met1410fs frameshift NM_001407644.1:c.4225del NP_001394573.1:p.Met1409fs frameshift NM_001407645.1:c.4225del NP_001394574.1:p.Met1409fs frameshift NM_001407646.1:c.4219del NP_001394575.1:p.Met1407fs frameshift NM_001407647.1:c.4219del NP_001394576.1:p.Met1407fs frameshift NM_001407648.1:c.4108del NP_001394577.1:p.Met1370fs frameshift NM_001407649.1:c.4105del NP_001394578.1:p.Met1369fs frameshift NM_001407652.1:c.4231del NP_001394581.1:p.Met1411fs frameshift NM_001407653.1:c.4153del NP_001394582.1:p.Met1385fs frameshift NM_001407654.1:c.4153del NP_001394583.1:p.Met1385fs frameshift NM_001407655.1:c.4153del NP_001394584.1:p.Met1385fs frameshift NM_001407656.1:c.4150del NP_001394585.1:p.Met1384fs frameshift NM_001407657.1:c.4153del NP_001394586.1:p.Met1385fs frameshift NM_001407658.1:c.4153del NP_001394587.1:p.Met1385fs frameshift NM_001407659.1:c.4147del NP_001394588.1:p.Met1383fs frameshift NM_001407660.1:c.4147del NP_001394589.1:p.Met1383fs frameshift NM_001407661.1:c.4150del NP_001394590.1:p.Met1384fs frameshift NM_001407662.1:c.4150del NP_001394591.1:p.Met1384fs frameshift NM_001407663.1:c.4150del NP_001394592.1:p.Met1384fs frameshift NM_001407664.1:c.4108del NP_001394593.1:p.Met1370fs frameshift NM_001407665.1:c.4108del NP_001394594.1:p.Met1370fs frameshift NM_001407666.1:c.4108del NP_001394595.1:p.Met1370fs frameshift NM_001407667.1:c.4108del NP_001394596.1:p.Met1370fs frameshift NM_001407668.1:c.4108del NP_001394597.1:p.Met1370fs frameshift NM_001407669.1:c.4108del NP_001394598.1:p.Met1370fs frameshift NM_001407670.1:c.4105del NP_001394599.1:p.Met1369fs frameshift NM_001407671.1:c.4105del NP_001394600.1:p.Met1369fs frameshift NM_001407672.1:c.4105del NP_001394601.1:p.Met1369fs frameshift NM_001407673.1:c.4105del NP_001394602.1:p.Met1369fs frameshift NM_001407674.1:c.4105del NP_001394603.1:p.Met1369fs frameshift NM_001407675.1:c.4105del NP_001394604.1:p.Met1369fs frameshift NM_001407676.1:c.4105del NP_001394605.1:p.Met1369fs frameshift NM_001407677.1:c.4108del NP_001394606.1:p.Met1370fs frameshift NM_001407678.1:c.4108del NP_001394607.1:p.Met1370fs frameshift NM_001407679.1:c.4108del NP_001394608.1:p.Met1370fs frameshift NM_001407680.1:c.4108del NP_001394609.1:p.Met1370fs frameshift NM_001407681.1:c.4105del NP_001394610.1:p.Met1369fs frameshift NM_001407682.1:c.4105del NP_001394611.1:p.Met1369fs frameshift NM_001407683.1:c.4105del NP_001394612.1:p.Met1369fs frameshift NM_001407684.1:c.4231del NP_001394613.1:p.Met1411fs frameshift NM_001407685.1:c.4102del NP_001394614.1:p.Met1368fs frameshift NM_001407686.1:c.4102del NP_001394615.1:p.Met1368fs frameshift NM_001407687.1:c.4102del NP_001394616.1:p.Met1368fs frameshift NM_001407688.1:c.4105del NP_001394617.1:p.Met1369fs frameshift NM_001407689.1:c.4105del NP_001394618.1:p.Met1369fs frameshift NM_001407690.1:c.4102del NP_001394619.1:p.Met1368fs frameshift NM_001407691.1:c.4102del NP_001394620.1:p.Met1368fs frameshift NM_001407692.1:c.4090del NP_001394621.1:p.Met1364fs frameshift NM_001407694.1:c.4090del NP_001394623.1:p.Met1364fs frameshift NM_001407695.1:c.4090del NP_001394624.1:p.Met1364fs frameshift NM_001407696.1:c.4090del NP_001394625.1:p.Met1364fs frameshift NM_001407697.1:c.4090del NP_001394626.1:p.Met1364fs frameshift NM_001407698.1:c.4090del NP_001394627.1:p.Met1364fs frameshift NM_001407724.1:c.4090del NP_001394653.1:p.Met1364fs frameshift NM_001407725.1:c.4090del NP_001394654.1:p.Met1364fs frameshift NM_001407726.1:c.4090del NP_001394655.1:p.Met1364fs frameshift NM_001407727.1:c.4090del NP_001394656.1:p.Met1364fs frameshift NM_001407728.1:c.4090del NP_001394657.1:p.Met1364fs frameshift NM_001407729.1:c.4090del NP_001394658.1:p.Met1364fs frameshift NM_001407730.1:c.4090del NP_001394659.1:p.Met1364fs frameshift NM_001407731.1:c.4090del NP_001394660.1:p.Met1364fs frameshift NM_001407732.1:c.4090del NP_001394661.1:p.Met1364fs frameshift NM_001407733.1:c.4090del NP_001394662.1:p.Met1364fs frameshift NM_001407734.1:c.4090del NP_001394663.1:p.Met1364fs frameshift NM_001407735.1:c.4090del NP_001394664.1:p.Met1364fs frameshift NM_001407736.1:c.4090del NP_001394665.1:p.Met1364fs frameshift NM_001407737.1:c.4090del NP_001394666.1:p.Met1364fs frameshift NM_001407738.1:c.4090del NP_001394667.1:p.Met1364fs frameshift NM_001407739.1:c.4090del NP_001394668.1:p.Met1364fs frameshift NM_001407740.1:c.4087del NP_001394669.1:p.Met1363fs frameshift NM_001407741.1:c.4087del NP_001394670.1:p.Met1363fs frameshift NM_001407742.1:c.4087del NP_001394671.1:p.Met1363fs frameshift NM_001407743.1:c.4087del NP_001394672.1:p.Met1363fs frameshift NM_001407744.1:c.4087del NP_001394673.1:p.Met1363fs frameshift NM_001407745.1:c.4087del NP_001394674.1:p.Met1363fs frameshift NM_001407746.1:c.4087del NP_001394675.1:p.Met1363fs frameshift NM_001407747.1:c.4087del NP_001394676.1:p.Met1363fs frameshift NM_001407748.1:c.4087del NP_001394677.1:p.Met1363fs frameshift NM_001407749.1:c.4087del NP_001394678.1:p.Met1363fs frameshift NM_001407750.1:c.4087del NP_001394679.1:p.Met1363fs frameshift NM_001407751.1:c.4087del NP_001394680.1:p.Met1363fs frameshift NM_001407752.1:c.4087del NP_001394681.1:p.Met1363fs frameshift NM_001407838.1:c.4087del NP_001394767.1:p.Met1363fs frameshift NM_001407839.1:c.4087del NP_001394768.1:p.Met1363fs frameshift NM_001407841.1:c.4087del NP_001394770.1:p.Met1363fs frameshift NM_001407842.1:c.4087del NP_001394771.1:p.Met1363fs frameshift NM_001407843.1:c.4087del NP_001394772.1:p.Met1363fs frameshift NM_001407844.1:c.4087del NP_001394773.1:p.Met1363fs frameshift NM_001407845.1:c.4087del NP_001394774.1:p.Met1363fs frameshift NM_001407846.1:c.4087del NP_001394775.1:p.Met1363fs frameshift NM_001407847.1:c.4084del NP_001394776.1:p.Met1362fs frameshift NM_001407848.1:c.4084del NP_001394777.1:p.Met1362fs frameshift NM_001407849.1:c.4084del NP_001394778.1:p.Met1362fs frameshift NM_001407850.1:c.4087del NP_001394779.1:p.Met1363fs frameshift NM_001407851.1:c.4087del NP_001394780.1:p.Met1363fs frameshift NM_001407852.1:c.4087del NP_001394781.1:p.Met1363fs frameshift NM_001407853.1:c.4018del NP_001394782.1:p.Met1340fs frameshift NM_001407854.1:c.4231del NP_001394783.1:p.Met1411fs frameshift NM_001407858.1:c.4231del NP_001394787.1:p.Met1411fs frameshift NM_001407859.1:c.4231del NP_001394788.1:p.Met1411fs frameshift NM_001407860.1:c.4228del NP_001394789.1:p.Met1410fs frameshift NM_001407861.1:c.4228del NP_001394790.1:p.Met1410fs frameshift NM_001407862.1:c.4030del NP_001394791.1:p.Met1344fs frameshift NM_001407863.1:c.4108del NP_001394792.1:p.Met1370fs frameshift NM_001407874.1:c.4027del NP_001394803.1:p.Met1343fs frameshift NM_001407875.1:c.4027del NP_001394804.1:p.Met1343fs frameshift NM_001407879.1:c.4021del NP_001394808.1:p.Met1341fs frameshift NM_001407881.1:c.4021del NP_001394810.1:p.Met1341fs frameshift NM_001407882.1:c.4021del NP_001394811.1:p.Met1341fs frameshift NM_001407884.1:c.4021del NP_001394813.1:p.Met1341fs frameshift NM_001407885.1:c.4021del NP_001394814.1:p.Met1341fs frameshift NM_001407886.1:c.4021del NP_001394815.1:p.Met1341fs frameshift NM_001407887.1:c.4021del NP_001394816.1:p.Met1341fs frameshift NM_001407889.1:c.4021del NP_001394818.1:p.Met1341fs frameshift NM_001407894.1:c.4018del NP_001394823.1:p.Met1340fs frameshift NM_001407895.1:c.4018del NP_001394824.1:p.Met1340fs frameshift NM_001407896.1:c.4018del NP_001394825.1:p.Met1340fs frameshift NM_001407897.1:c.4018del NP_001394826.1:p.Met1340fs frameshift NM_001407898.1:c.4018del NP_001394827.1:p.Met1340fs frameshift NM_001407899.1:c.4018del NP_001394828.1:p.Met1340fs frameshift NM_001407900.1:c.4021del NP_001394829.1:p.Met1341fs frameshift NM_001407902.1:c.4021del NP_001394831.1:p.Met1341fs frameshift NM_001407904.1:c.4021del NP_001394833.1:p.Met1341fs frameshift NM_001407906.1:c.4021del NP_001394835.1:p.Met1341fs frameshift NM_001407907.1:c.4018del NP_001394836.1:p.Met1340fs frameshift NM_001407908.1:c.4018del NP_001394837.1:p.Met1340fs frameshift NM_001407909.1:c.4018del NP_001394838.1:p.Met1340fs frameshift NM_001407910.1:c.4018del NP_001394839.1:p.Met1340fs frameshift NM_001407915.1:c.4015del NP_001394844.1:p.Met1339fs frameshift NM_001407916.1:c.4018del NP_001394845.1:p.Met1340fs frameshift NM_001407917.1:c.4018del NP_001394846.1:p.Met1340fs frameshift NM_001407918.1:c.4018del NP_001394847.1:p.Met1340fs frameshift NM_001407919.1:c.4108del NP_001394848.1:p.Met1370fs frameshift NM_001407920.1:c.3967del NP_001394849.1:p.Met1323fs frameshift NM_001407921.1:c.3967del NP_001394850.1:p.Met1323fs frameshift NM_001407922.1:c.3967del NP_001394851.1:p.Met1323fs frameshift NM_001407923.1:c.3967del NP_001394852.1:p.Met1323fs frameshift NM_001407924.1:c.3967del NP_001394853.1:p.Met1323fs frameshift NM_001407925.1:c.3967del NP_001394854.1:p.Met1323fs frameshift NM_001407926.1:c.3967del NP_001394855.1:p.Met1323fs frameshift NM_001407927.1:c.3967del NP_001394856.1:p.Met1323fs frameshift NM_001407928.1:c.3967del NP_001394857.1:p.Met1323fs frameshift NM_001407929.1:c.3967del NP_001394858.1:p.Met1323fs frameshift NM_001407930.1:c.3964del NP_001394859.1:p.Met1322fs frameshift NM_001407931.1:c.3964del NP_001394860.1:p.Met1322fs frameshift NM_001407932.1:c.3964del NP_001394861.1:p.Met1322fs frameshift NM_001407933.1:c.3964del NP_001394862.1:p.Met1322fs frameshift NM_001407934.1:c.3961del NP_001394863.1:p.Met1321fs frameshift NM_001407935.1:c.3964del NP_001394864.1:p.Met1322fs frameshift NM_001407936.1:c.3964del NP_001394865.1:p.Met1322fs frameshift NM_001407937.1:c.4108del NP_001394866.1:p.Met1370fs frameshift NM_001407938.1:c.4108del NP_001394867.1:p.Met1370fs frameshift NM_001407939.1:c.4108del NP_001394868.1:p.Met1370fs frameshift NM_001407940.1:c.4105del NP_001394869.1:p.Met1369fs frameshift NM_001407941.1:c.4105del NP_001394870.1:p.Met1369fs frameshift NM_001407942.1:c.4090del NP_001394871.1:p.Met1364fs frameshift NM_001407943.1:c.4087del NP_001394872.1:p.Met1363fs frameshift NM_001407944.1:c.4090del NP_001394873.1:p.Met1364fs frameshift NM_001407945.1:c.4090del NP_001394874.1:p.Met1364fs frameshift NM_001407946.1:c.3898del NP_001394875.1:p.Met1300fs frameshift NM_001407947.1:c.3898del NP_001394876.1:p.Met1300fs frameshift NM_001407948.1:c.3898del NP_001394877.1:p.Met1300fs frameshift NM_001407949.1:c.3898del NP_001394878.1:p.Met1300fs frameshift NM_001407950.1:c.3898del NP_001394879.1:p.Met1300fs frameshift NM_001407951.1:c.3898del NP_001394880.1:p.Met1300fs frameshift NM_001407952.1:c.3895del NP_001394881.1:p.Met1299fs frameshift NM_001407953.1:c.3895del NP_001394882.1:p.Met1299fs frameshift NM_001407954.1:c.3895del NP_001394883.1:p.Met1299fs frameshift NM_001407955.1:c.3895del NP_001394884.1:p.Met1299fs frameshift NM_001407956.1:c.3892del NP_001394885.1:p.Met1298fs frameshift NM_001407957.1:c.3895del NP_001394886.1:p.Met1299fs frameshift NM_001407958.1:c.3895del NP_001394887.1:p.Met1299fs frameshift NM_001407959.1:c.3850del NP_001394888.1:p.Met1284fs frameshift NM_001407960.1:c.3850del NP_001394889.1:p.Met1284fs frameshift NM_001407962.1:c.3847del NP_001394891.1:p.Met1283fs frameshift NM_001407963.1:c.3847del NP_001394892.1:p.Met1283fs frameshift NM_001407964.1:c.4087del NP_001394893.1:p.Met1363fs frameshift NM_001407965.1:c.3724del NP_001394894.1:p.Met1242fs frameshift NM_001407966.1:c.3343del NP_001394895.1:p.Met1115fs frameshift NM_001407967.1:c.3343del NP_001394896.1:p.Met1115fs frameshift NM_001407968.1:c.1627del NP_001394897.1:p.Met543fs frameshift NM_001407969.1:c.1624del NP_001394898.1:p.Met542fs frameshift NM_001407970.1:c.922del NP_001394899.1:p.Met308fs frameshift NM_001407971.1:c.922del NP_001394900.1:p.Met308fs frameshift NM_001407972.1:c.919del NP_001394901.1:p.Met307fs frameshift NM_001407973.1:c.922del NP_001394902.1:p.Met308fs frameshift NM_001407974.1:c.922del NP_001394903.1:p.Met308fs frameshift NM_001407975.1:c.922del NP_001394904.1:p.Met308fs frameshift NM_001407976.1:c.922del NP_001394905.1:p.Met308fs frameshift NM_001407977.1:c.922del NP_001394906.1:p.Met308fs frameshift NM_001407978.1:c.922del NP_001394907.1:p.Met308fs frameshift NM_001407979.1:c.919del NP_001394908.1:p.Met307fs frameshift NM_001407980.1:c.919del NP_001394909.1:p.Met307fs frameshift NM_001407981.1:c.919del NP_001394910.1:p.Met307fs frameshift NM_001407982.1:c.919del NP_001394911.1:p.Met307fs frameshift NM_001407983.1:c.919del NP_001394912.1:p.Met307fs frameshift NM_001407984.1:c.919del NP_001394913.1:p.Met307fs frameshift NM_001407985.1:c.919del NP_001394914.1:p.Met307fs frameshift NM_001407986.1:c.919del NP_001394915.1:p.Met307fs frameshift NM_001407990.1:c.919del NP_001394919.1:p.Met307fs frameshift NM_001407991.1:c.919del NP_001394920.1:p.Met307fs frameshift NM_001407992.1:c.919del NP_001394921.1:p.Met307fs frameshift NM_001407993.1:c.922del NP_001394922.1:p.Met308fs frameshift NM_001408392.1:c.919del NP_001395321.1:p.Met307fs frameshift NM_001408396.1:c.919del NP_001395325.1:p.Met307fs frameshift NM_001408397.1:c.919del NP_001395326.1:p.Met307fs frameshift NM_001408398.1:c.919del NP_001395327.1:p.Met307fs frameshift NM_001408399.1:c.919del NP_001395328.1:p.Met307fs frameshift NM_001408400.1:c.916del NP_001395329.1:p.Met306fs frameshift NM_001408401.1:c.916del NP_001395330.1:p.Met306fs frameshift NM_001408402.1:c.916del NP_001395331.1:p.Met306fs frameshift NM_001408403.1:c.919del NP_001395332.1:p.Met307fs frameshift NM_001408404.1:c.919del NP_001395333.1:p.Met307fs frameshift NM_001408406.1:c.913del NP_001395335.1:p.Met305fs frameshift NM_001408407.1:c.916del NP_001395336.1:p.Met306fs frameshift NM_001408408.1:c.913del NP_001395337.1:p.Met305fs frameshift NM_001408409.1:c.844del NP_001395338.1:p.Met282fs frameshift NM_001408410.1:c.781del NP_001395339.1:p.Met261fs frameshift NM_001408411.1:c.844del NP_001395340.1:p.Met282fs frameshift NM_001408412.1:c.844del NP_001395341.1:p.Met282fs frameshift NM_001408413.1:c.841del NP_001395342.1:p.Met281fs frameshift NM_001408414.1:c.844del NP_001395343.1:p.Met282fs frameshift NM_001408415.1:c.844del NP_001395344.1:p.Met282fs frameshift NM_001408416.1:c.841del NP_001395345.1:p.Met281fs frameshift NM_001408418.1:c.805del NP_001395347.1:p.Met269fs frameshift NM_001408419.1:c.805del NP_001395348.1:p.Met269fs frameshift NM_001408420.1:c.805del NP_001395349.1:p.Met269fs frameshift NM_001408421.1:c.802del NP_001395350.1:p.Met268fs frameshift NM_001408422.1:c.805del NP_001395351.1:p.Met269fs frameshift NM_001408423.1:c.805del NP_001395352.1:p.Met269fs frameshift NM_001408424.1:c.802del NP_001395353.1:p.Met268fs frameshift NM_001408425.1:c.799del NP_001395354.1:p.Met267fs frameshift NM_001408426.1:c.799del NP_001395355.1:p.Met267fs frameshift NM_001408427.1:c.799del NP_001395356.1:p.Met267fs frameshift NM_001408428.1:c.799del NP_001395357.1:p.Met267fs frameshift NM_001408429.1:c.799del NP_001395358.1:p.Met267fs frameshift NM_001408430.1:c.799del NP_001395359.1:p.Met267fs frameshift NM_001408431.1:c.802del NP_001395360.1:p.Met268fs frameshift NM_001408432.1:c.796del NP_001395361.1:p.Met266fs frameshift NM_001408433.1:c.796del NP_001395362.1:p.Met266fs frameshift NM_001408434.1:c.796del NP_001395363.1:p.Met266fs frameshift NM_001408435.1:c.796del NP_001395364.1:p.Met266fs frameshift NM_001408436.1:c.799del NP_001395365.1:p.Met267fs frameshift NM_001408437.1:c.799del NP_001395366.1:p.Met267fs frameshift NM_001408438.1:c.799del NP_001395367.1:p.Met267fs frameshift NM_001408439.1:c.799del NP_001395368.1:p.Met267fs frameshift NM_001408440.1:c.799del NP_001395369.1:p.Met267fs frameshift NM_001408441.1:c.796del NP_001395370.1:p.Met266fs frameshift NM_001408442.1:c.796del NP_001395371.1:p.Met266fs frameshift NM_001408443.1:c.796del NP_001395372.1:p.Met266fs frameshift NM_001408444.1:c.796del NP_001395373.1:p.Met266fs frameshift NM_001408445.1:c.796del NP_001395374.1:p.Met266fs frameshift NM_001408446.1:c.796del NP_001395375.1:p.Met266fs frameshift NM_001408447.1:c.796del NP_001395376.1:p.Met266fs frameshift NM_001408448.1:c.796del NP_001395377.1:p.Met266fs frameshift NM_001408450.1:c.796del NP_001395379.1:p.Met266fs frameshift NM_001408451.1:c.787del NP_001395380.1:p.Met263fs frameshift NM_001408452.1:c.781del NP_001395381.1:p.Met261fs frameshift NM_001408453.1:c.781del NP_001395382.1:p.Met261fs frameshift NM_001408454.1:c.781del NP_001395383.1:p.Met261fs frameshift NM_001408455.1:c.781del NP_001395384.1:p.Met261fs frameshift NM_001408456.1:c.781del NP_001395385.1:p.Met261fs frameshift NM_001408457.1:c.781del NP_001395386.1:p.Met261fs frameshift NM_001408458.1:c.781del NP_001395387.1:p.Met261fs frameshift NM_001408459.1:c.781del NP_001395388.1:p.Met261fs frameshift NM_001408460.1:c.781del NP_001395389.1:p.Met261fs frameshift NM_001408461.1:c.781del NP_001395390.1:p.Met261fs frameshift NM_001408462.1:c.778del NP_001395391.1:p.Met260fs frameshift NM_001408463.1:c.778del NP_001395392.1:p.Met260fs frameshift NM_001408464.1:c.778del NP_001395393.1:p.Met260fs frameshift NM_001408465.1:c.778del NP_001395394.1:p.Met260fs frameshift NM_001408466.1:c.778del NP_001395395.1:p.Met260fs frameshift NM_001408467.1:c.778del NP_001395396.1:p.Met260fs frameshift NM_001408468.1:c.778del NP_001395397.1:p.Met260fs frameshift NM_001408469.1:c.778del NP_001395398.1:p.Met260fs frameshift NM_001408470.1:c.775del NP_001395399.1:p.Met259fs frameshift NM_001408472.1:c.919del NP_001395401.1:p.Met307fs frameshift NM_001408473.1:c.919del NP_001395402.1:p.Met307fs frameshift NM_001408474.1:c.721del NP_001395403.1:p.Met241fs frameshift NM_001408475.1:c.718del NP_001395404.1:p.Met240fs frameshift NM_001408476.1:c.721del NP_001395405.1:p.Met241fs frameshift NM_001408478.1:c.712del NP_001395407.1:p.Met238fs frameshift NM_001408479.1:c.712del NP_001395408.1:p.Met238fs frameshift NM_001408480.1:c.712del NP_001395409.1:p.Met238fs frameshift NM_001408481.1:c.712del NP_001395410.1:p.Met238fs frameshift NM_001408482.1:c.712del NP_001395411.1:p.Met238fs frameshift NM_001408483.1:c.712del NP_001395412.1:p.Met238fs frameshift NM_001408484.1:c.712del NP_001395413.1:p.Met238fs frameshift NM_001408485.1:c.712del NP_001395414.1:p.Met238fs frameshift NM_001408489.1:c.709del NP_001395418.1:p.Met237fs frameshift NM_001408490.1:c.709del NP_001395419.1:p.Met237fs frameshift NM_001408491.1:c.709del NP_001395420.1:p.Met237fs frameshift NM_001408492.1:c.709del NP_001395421.1:p.Met237fs frameshift NM_001408493.1:c.709del NP_001395422.1:p.Met237fs frameshift NM_001408494.1:c.682del NP_001395423.1:p.Met228fs frameshift NM_001408495.1:c.679del NP_001395424.1:p.Met227fs frameshift NM_001408496.1:c.658del NP_001395425.1:p.Met220fs frameshift NM_001408497.1:c.658del NP_001395426.1:p.Met220fs frameshift NM_001408498.1:c.658del NP_001395427.1:p.Met220fs frameshift NM_001408499.1:c.658del NP_001395428.1:p.Met220fs frameshift NM_001408500.1:c.658del NP_001395429.1:p.Met220fs frameshift NM_001408501.1:c.658del NP_001395430.1:p.Met220fs frameshift NM_001408502.1:c.589del NP_001395431.1:p.Met197fs frameshift NM_001408503.1:c.655del NP_001395432.1:p.Met219fs frameshift NM_001408504.1:c.655del NP_001395433.1:p.Met219fs frameshift NM_001408505.1:c.655del NP_001395434.1:p.Met219fs frameshift NM_001408506.1:c.595del NP_001395435.1:p.Met199fs frameshift NM_001408507.1:c.592del NP_001395436.1:p.Met198fs frameshift NM_001408508.1:c.583del NP_001395437.1:p.Met195fs frameshift NM_001408509.1:c.583del NP_001395438.1:p.Met195fs frameshift NM_001408510.1:c.541del NP_001395439.1:p.Met181fs frameshift NM_001408511.1:c.538del NP_001395440.1:p.Met180fs frameshift NM_001408512.1:c.418del NP_001395441.1:p.Met140fs frameshift NM_001408513.1:c.709del NP_001395442.1:p.Met237fs frameshift NM_001408514.1:c.712del NP_001395443.1:p.Met238fs frameshift NM_007297.4:c.4090del NP_009228.2:p.Met1364fs frameshift NM_007298.4:c.922del NP_009229.2:p.Met308fs frameshift NM_007299.4:c.922del NP_009230.2:p.Met308fs frameshift NM_007300.4:c.4231del NP_009231.2:p.Met1411fs frameshift NM_007304.2:c.920delA NP_009235.2:p.Met308Trpfs frameshift NR_027676.2:n.4406delA NC_000017.11:g.43082532del NC_000017.10:g.41234549del NG_005905.2:g.135454del LRG_292:g.135454del LRG_292t1:c.4229del LRG_292p1:p.Met1411Trpfs - Protein change
- M1115fs, M1242fs, M1283fs, M1284fs, M1298fs, M1299fs, M1300fs, M1321fs, M1322fs, M1323fs, M1339fs, M1340fs, M1341fs, M1343fs, M1344fs, M1362fs, M1363fs, M1364fs, M1368fs, M1369fs, M1370fs, M1383fs, M1384fs, M1385fs, M1407fs, M1409fs, M140fs, M1410fs, M1411fs, M180fs, M181fs, M195fs, M197fs, M198fs, M199fs, M219fs, M220fs, M227fs, M228fs, M237fs, M238fs, M240fs, M241fs, M259fs, M260fs, M261fs, M263fs, M266fs, M267fs, M268fs, M269fs, M281fs, M282fs, M305fs, M306fs, M307fs, M308fs, M542fs, M543fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082529:TTT:TT
-
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.
- -
- 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 | ||
|---|---|---|---|---|---|---|
| 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 |
13044 | 14850 | |
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. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
|
Mar 1, 2023 | RCV003316994.1 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Mar 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV004019443.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
|
Comment:
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. |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.