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.4554del (p.Asn1519fs)
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.4554del (p.Asn1519fs)
Variation ID: 2573323 Accession: VCV002573323.1
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074452 (GRCh38) [ NCBI UCSC ] 17: 41226469 (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 Feb 13, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4554del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn1519fs frameshift NM_001407571.1:c.4341del NP_001394500.1:p.Asn1448fs frameshift NM_001407581.1:c.4620del NP_001394510.1:p.Asn1541fs frameshift NM_001407582.1:c.4620del NP_001394511.1:p.Asn1541fs frameshift NM_001407583.1:c.4617del NP_001394512.1:p.Asn1540fs frameshift NM_001407585.1:c.4617del NP_001394514.1:p.Asn1540fs frameshift NM_001407587.1:c.4617del NP_001394516.1:p.Asn1540fs frameshift NM_001407590.1:c.4614del NP_001394519.1:p.Asn1539fs frameshift NM_001407591.1:c.4614del NP_001394520.1:p.Asn1539fs frameshift NM_001407593.1:c.4554del NP_001394522.1:p.Asn1519fs frameshift NM_001407594.1:c.4554del NP_001394523.1:p.Asn1519fs frameshift NM_001407596.1:c.4554del NP_001394525.1:p.Asn1519fs frameshift NM_001407597.1:c.4554del NP_001394526.1:p.Asn1519fs frameshift NM_001407598.1:c.4554del NP_001394527.1:p.Asn1519fs frameshift NM_001407602.1:c.4554del NP_001394531.1:p.Asn1519fs frameshift NM_001407603.1:c.4554del NP_001394532.1:p.Asn1519fs frameshift NM_001407605.1:c.4554del NP_001394534.1:p.Asn1519fs frameshift NM_001407610.1:c.4551del NP_001394539.1:p.Asn1518fs frameshift NM_001407611.1:c.4551del NP_001394540.1:p.Asn1518fs frameshift NM_001407612.1:c.4551del NP_001394541.1:p.Asn1518fs frameshift NM_001407613.1:c.4551del NP_001394542.1:p.Asn1518fs frameshift NM_001407614.1:c.4551del NP_001394543.1:p.Asn1518fs frameshift NM_001407615.1:c.4551del NP_001394544.1:p.Asn1518fs frameshift NM_001407616.1:c.4551del NP_001394545.1:p.Asn1518fs frameshift NM_001407617.1:c.4551del NP_001394546.1:p.Asn1518fs frameshift NM_001407618.1:c.4551del NP_001394547.1:p.Asn1518fs frameshift NM_001407619.1:c.4551del NP_001394548.1:p.Asn1518fs frameshift NM_001407620.1:c.4551del NP_001394549.1:p.Asn1518fs frameshift NM_001407621.1:c.4551del NP_001394550.1:p.Asn1518fs frameshift NM_001407622.1:c.4551del NP_001394551.1:p.Asn1518fs frameshift NM_001407623.1:c.4551del NP_001394552.1:p.Asn1518fs frameshift NM_001407624.1:c.4551del NP_001394553.1:p.Asn1518fs frameshift NM_001407625.1:c.4551del NP_001394554.1:p.Asn1518fs frameshift NM_001407626.1:c.4551del NP_001394555.1:p.Asn1518fs frameshift NM_001407627.1:c.4548del NP_001394556.1:p.Asn1517fs frameshift NM_001407628.1:c.4548del NP_001394557.1:p.Asn1517fs frameshift NM_001407629.1:c.4548del NP_001394558.1:p.Asn1517fs frameshift NM_001407630.1:c.4548del NP_001394559.1:p.Asn1517fs frameshift NM_001407631.1:c.4548del NP_001394560.1:p.Asn1517fs frameshift NM_001407632.1:c.4548del NP_001394561.1:p.Asn1517fs frameshift NM_001407633.1:c.4548del NP_001394562.1:p.Asn1517fs frameshift NM_001407634.1:c.4548del NP_001394563.1:p.Asn1517fs frameshift NM_001407635.1:c.4548del NP_001394564.1:p.Asn1517fs frameshift NM_001407636.1:c.4548del NP_001394565.1:p.Asn1517fs frameshift NM_001407637.1:c.4548del NP_001394566.1:p.Asn1517fs frameshift NM_001407638.1:c.4548del NP_001394567.1:p.Asn1517fs frameshift NM_001407639.1:c.4548del NP_001394568.1:p.Asn1517fs frameshift NM_001407640.1:c.4548del NP_001394569.1:p.Asn1517fs frameshift NM_001407641.1:c.4548del NP_001394570.1:p.Asn1517fs frameshift NM_001407642.1:c.4548del NP_001394571.1:p.Asn1517fs frameshift NM_001407644.1:c.4545del NP_001394573.1:p.Asn1516fs frameshift NM_001407645.1:c.4545del NP_001394574.1:p.Asn1516fs frameshift NM_001407646.1:c.4542del NP_001394575.1:p.Asn1515fs frameshift NM_001407647.1:c.4539del NP_001394576.1:p.Asn1514fs frameshift NM_001407648.1:c.4497del NP_001394577.1:p.Asn1500fs frameshift NM_001407649.1:c.4494del NP_001394578.1:p.Asn1499fs frameshift NM_001407652.1:c.4554del NP_001394581.1:p.Asn1519fs frameshift NM_001407653.1:c.4476del NP_001394582.1:p.Asn1493fs frameshift NM_001407654.1:c.4476del NP_001394583.1:p.Asn1493fs frameshift NM_001407655.1:c.4476del NP_001394584.1:p.Asn1493fs frameshift NM_001407656.1:c.4473del NP_001394585.1:p.Asn1492fs frameshift NM_001407657.1:c.4473del NP_001394586.1:p.Asn1492fs frameshift NM_001407658.1:c.4473del NP_001394587.1:p.Asn1492fs frameshift NM_001407659.1:c.4470del NP_001394588.1:p.Asn1491fs frameshift NM_001407660.1:c.4470del NP_001394589.1:p.Asn1491fs frameshift NM_001407661.1:c.4470del NP_001394590.1:p.Asn1491fs frameshift NM_001407662.1:c.4470del NP_001394591.1:p.Asn1491fs frameshift NM_001407663.1:c.4470del NP_001394592.1:p.Asn1491fs frameshift NM_001407664.1:c.4431del NP_001394593.1:p.Asn1478fs frameshift NM_001407665.1:c.4431del NP_001394594.1:p.Asn1478fs frameshift NM_001407666.1:c.4431del NP_001394595.1:p.Asn1478fs frameshift NM_001407667.1:c.4431del NP_001394596.1:p.Asn1478fs frameshift NM_001407668.1:c.4431del NP_001394597.1:p.Asn1478fs frameshift NM_001407669.1:c.4431del NP_001394598.1:p.Asn1478fs frameshift NM_001407670.1:c.4428del NP_001394599.1:p.Asn1477fs frameshift NM_001407671.1:c.4428del NP_001394600.1:p.Asn1477fs frameshift NM_001407672.1:c.4428del NP_001394601.1:p.Asn1477fs frameshift NM_001407673.1:c.4428del NP_001394602.1:p.Asn1477fs frameshift NM_001407674.1:c.4428del NP_001394603.1:p.Asn1477fs frameshift NM_001407675.1:c.4428del NP_001394604.1:p.Asn1477fs frameshift NM_001407676.1:c.4428del NP_001394605.1:p.Asn1477fs frameshift NM_001407677.1:c.4428del NP_001394606.1:p.Asn1477fs frameshift NM_001407678.1:c.4428del NP_001394607.1:p.Asn1477fs frameshift NM_001407679.1:c.4428del NP_001394608.1:p.Asn1477fs frameshift NM_001407680.1:c.4428del NP_001394609.1:p.Asn1477fs frameshift NM_001407681.1:c.4425del NP_001394610.1:p.Asn1476fs frameshift NM_001407682.1:c.4425del NP_001394611.1:p.Asn1476fs frameshift NM_001407683.1:c.4425del NP_001394612.1:p.Asn1476fs frameshift NM_001407684.1:c.4554del NP_001394613.1:p.Asn1519fs frameshift NM_001407685.1:c.4425del NP_001394614.1:p.Asn1476fs frameshift NM_001407686.1:c.4425del NP_001394615.1:p.Asn1476fs frameshift NM_001407687.1:c.4425del NP_001394616.1:p.Asn1476fs frameshift NM_001407688.1:c.4425del NP_001394617.1:p.Asn1476fs frameshift NM_001407689.1:c.4425del NP_001394618.1:p.Asn1476fs frameshift NM_001407690.1:c.4422del NP_001394619.1:p.Asn1475fs frameshift NM_001407691.1:c.4422del NP_001394620.1:p.Asn1475fs frameshift NM_001407692.1:c.4413del NP_001394621.1:p.Asn1472fs frameshift NM_001407694.1:c.4413del NP_001394623.1:p.Asn1472fs frameshift NM_001407695.1:c.4413del NP_001394624.1:p.Asn1472fs frameshift NM_001407696.1:c.4413del NP_001394625.1:p.Asn1472fs frameshift NM_001407697.1:c.4413del NP_001394626.1:p.Asn1472fs frameshift NM_001407698.1:c.4413del NP_001394627.1:p.Asn1472fs frameshift NM_001407724.1:c.4413del NP_001394653.1:p.Asn1472fs frameshift NM_001407725.1:c.4413del NP_001394654.1:p.Asn1472fs frameshift NM_001407726.1:c.4413del NP_001394655.1:p.Asn1472fs frameshift NM_001407727.1:c.4413del NP_001394656.1:p.Asn1472fs frameshift NM_001407728.1:c.4413del NP_001394657.1:p.Asn1472fs frameshift NM_001407729.1:c.4413del NP_001394658.1:p.Asn1472fs frameshift NM_001407730.1:c.4413del NP_001394659.1:p.Asn1472fs frameshift NM_001407731.1:c.4413del NP_001394660.1:p.Asn1472fs frameshift NM_001407732.1:c.4410del NP_001394661.1:p.Asn1471fs frameshift NM_001407733.1:c.4410del NP_001394662.1:p.Asn1471fs frameshift NM_001407734.1:c.4410del NP_001394663.1:p.Asn1471fs frameshift NM_001407735.1:c.4410del NP_001394664.1:p.Asn1471fs frameshift NM_001407736.1:c.4410del NP_001394665.1:p.Asn1471fs frameshift NM_001407737.1:c.4410del NP_001394666.1:p.Asn1471fs frameshift NM_001407738.1:c.4410del NP_001394667.1:p.Asn1471fs frameshift NM_001407739.1:c.4410del NP_001394668.1:p.Asn1471fs frameshift NM_001407740.1:c.4410del NP_001394669.1:p.Asn1471fs frameshift NM_001407741.1:c.4410del NP_001394670.1:p.Asn1471fs frameshift NM_001407742.1:c.4410del NP_001394671.1:p.Asn1471fs frameshift NM_001407743.1:c.4410del NP_001394672.1:p.Asn1471fs frameshift NM_001407744.1:c.4410del NP_001394673.1:p.Asn1471fs frameshift NM_001407745.1:c.4410del NP_001394674.1:p.Asn1471fs frameshift NM_001407746.1:c.4410del NP_001394675.1:p.Asn1471fs frameshift NM_001407747.1:c.4410del NP_001394676.1:p.Asn1471fs frameshift NM_001407748.1:c.4410del NP_001394677.1:p.Asn1471fs frameshift NM_001407749.1:c.4410del NP_001394678.1:p.Asn1471fs frameshift NM_001407750.1:c.4410del NP_001394679.1:p.Asn1471fs frameshift NM_001407751.1:c.4410del NP_001394680.1:p.Asn1471fs frameshift NM_001407752.1:c.4410del NP_001394681.1:p.Asn1471fs frameshift NM_001407838.1:c.4407del NP_001394767.1:p.Asn1470fs frameshift NM_001407839.1:c.4407del NP_001394768.1:p.Asn1470fs frameshift NM_001407841.1:c.4407del NP_001394770.1:p.Asn1470fs frameshift NM_001407842.1:c.4407del NP_001394771.1:p.Asn1470fs frameshift NM_001407843.1:c.4407del NP_001394772.1:p.Asn1470fs frameshift NM_001407844.1:c.4407del NP_001394773.1:p.Asn1470fs frameshift NM_001407845.1:c.4407del NP_001394774.1:p.Asn1470fs frameshift NM_001407846.1:c.4407del NP_001394775.1:p.Asn1470fs frameshift NM_001407847.1:c.4407del NP_001394776.1:p.Asn1470fs frameshift NM_001407848.1:c.4407del NP_001394777.1:p.Asn1470fs frameshift NM_001407849.1:c.4407del NP_001394778.1:p.Asn1470fs frameshift NM_001407850.1:c.4407del NP_001394779.1:p.Asn1470fs frameshift NM_001407851.1:c.4407del NP_001394780.1:p.Asn1470fs frameshift NM_001407852.1:c.4407del NP_001394781.1:p.Asn1470fs frameshift NM_001407853.1:c.4407del NP_001394782.1:p.Asn1470fs frameshift NM_001407854.1:c.4554del NP_001394783.1:p.Asn1519fs frameshift NM_001407858.1:c.4551del NP_001394787.1:p.Asn1518fs frameshift NM_001407859.1:c.4551del NP_001394788.1:p.Asn1518fs frameshift NM_001407860.1:c.4551del NP_001394789.1:p.Asn1518fs frameshift NM_001407861.1:c.4548del NP_001394790.1:p.Asn1517fs frameshift NM_001407862.1:c.4353del NP_001394791.1:p.Asn1452fs frameshift NM_001407863.1:c.4428del NP_001394792.1:p.Asn1477fs frameshift NM_001407874.1:c.4347del NP_001394803.1:p.Asn1450fs frameshift NM_001407875.1:c.4347del NP_001394804.1:p.Asn1450fs frameshift NM_001407879.1:c.4344del NP_001394808.1:p.Asn1449fs frameshift NM_001407881.1:c.4344del NP_001394810.1:p.Asn1449fs frameshift NM_001407882.1:c.4344del NP_001394811.1:p.Asn1449fs frameshift NM_001407884.1:c.4344del NP_001394813.1:p.Asn1449fs frameshift NM_001407885.1:c.4344del NP_001394814.1:p.Asn1449fs frameshift NM_001407886.1:c.4344del NP_001394815.1:p.Asn1449fs frameshift NM_001407887.1:c.4344del NP_001394816.1:p.Asn1449fs frameshift NM_001407889.1:c.4344del NP_001394818.1:p.Asn1449fs frameshift NM_001407894.1:c.4341del NP_001394823.1:p.Asn1448fs frameshift NM_001407895.1:c.4341del NP_001394824.1:p.Asn1448fs frameshift NM_001407896.1:c.4341del NP_001394825.1:p.Asn1448fs frameshift NM_001407897.1:c.4341del NP_001394826.1:p.Asn1448fs frameshift NM_001407898.1:c.4341del NP_001394827.1:p.Asn1448fs frameshift NM_001407899.1:c.4341del NP_001394828.1:p.Asn1448fs frameshift NM_001407900.1:c.4341del NP_001394829.1:p.Asn1448fs frameshift NM_001407902.1:c.4341del NP_001394831.1:p.Asn1448fs frameshift NM_001407904.1:c.4341del NP_001394833.1:p.Asn1448fs frameshift NM_001407906.1:c.4341del NP_001394835.1:p.Asn1448fs frameshift NM_001407907.1:c.4341del NP_001394836.1:p.Asn1448fs frameshift NM_001407908.1:c.4341del NP_001394837.1:p.Asn1448fs frameshift NM_001407909.1:c.4341del NP_001394838.1:p.Asn1448fs frameshift NM_001407910.1:c.4341del NP_001394839.1:p.Asn1448fs frameshift NM_001407915.1:c.4338del NP_001394844.1:p.Asn1447fs frameshift NM_001407916.1:c.4338del NP_001394845.1:p.Asn1447fs frameshift NM_001407917.1:c.4338del NP_001394846.1:p.Asn1447fs frameshift NM_001407918.1:c.4338del NP_001394847.1:p.Asn1447fs frameshift NM_001407919.1:c.4431del NP_001394848.1:p.Asn1478fs frameshift NM_001407920.1:c.4290del NP_001394849.1:p.Asn1431fs frameshift NM_001407921.1:c.4290del NP_001394850.1:p.Asn1431fs frameshift NM_001407922.1:c.4290del NP_001394851.1:p.Asn1431fs frameshift NM_001407923.1:c.4290del NP_001394852.1:p.Asn1431fs frameshift NM_001407924.1:c.4290del NP_001394853.1:p.Asn1431fs frameshift NM_001407925.1:c.4290del NP_001394854.1:p.Asn1431fs frameshift NM_001407926.1:c.4290del NP_001394855.1:p.Asn1431fs frameshift NM_001407927.1:c.4287del NP_001394856.1:p.Asn1430fs frameshift NM_001407928.1:c.4287del NP_001394857.1:p.Asn1430fs frameshift NM_001407929.1:c.4287del NP_001394858.1:p.Asn1430fs frameshift NM_001407930.1:c.4287del NP_001394859.1:p.Asn1430fs frameshift NM_001407931.1:c.4287del NP_001394860.1:p.Asn1430fs frameshift NM_001407932.1:c.4287del NP_001394861.1:p.Asn1430fs frameshift NM_001407933.1:c.4287del NP_001394862.1:p.Asn1430fs frameshift NM_001407934.1:c.4284del NP_001394863.1:p.Asn1429fs frameshift NM_001407935.1:c.4284del NP_001394864.1:p.Asn1429fs frameshift NM_001407936.1:c.4284del NP_001394865.1:p.Asn1429fs frameshift NM_001407937.1:c.4431del NP_001394866.1:p.Asn1478fs frameshift NM_001407938.1:c.4431del NP_001394867.1:p.Asn1478fs frameshift NM_001407939.1:c.4428del NP_001394868.1:p.Asn1477fs frameshift NM_001407940.1:c.4428del NP_001394869.1:p.Asn1477fs frameshift NM_001407941.1:c.4425del NP_001394870.1:p.Asn1476fs frameshift NM_001407942.1:c.4413del NP_001394871.1:p.Asn1472fs frameshift NM_001407943.1:c.4410del NP_001394872.1:p.Asn1471fs frameshift NM_001407944.1:c.4410del NP_001394873.1:p.Asn1471fs frameshift NM_001407945.1:c.4410del NP_001394874.1:p.Asn1471fs frameshift NM_001407946.1:c.4221del NP_001394875.1:p.Asn1408fs frameshift NM_001407947.1:c.4221del NP_001394876.1:p.Asn1408fs frameshift NM_001407948.1:c.4221del NP_001394877.1:p.Asn1408fs frameshift NM_001407949.1:c.4221del NP_001394878.1:p.Asn1408fs frameshift NM_001407950.1:c.4218del NP_001394879.1:p.Asn1407fs frameshift NM_001407951.1:c.4218del NP_001394880.1:p.Asn1407fs frameshift NM_001407952.1:c.4218del NP_001394881.1:p.Asn1407fs frameshift NM_001407953.1:c.4218del NP_001394882.1:p.Asn1407fs frameshift NM_001407954.1:c.4218del NP_001394883.1:p.Asn1407fs frameshift NM_001407955.1:c.4218del NP_001394884.1:p.Asn1407fs frameshift NM_001407956.1:c.4215del NP_001394885.1:p.Asn1406fs frameshift NM_001407957.1:c.4215del NP_001394886.1:p.Asn1406fs frameshift NM_001407958.1:c.4215del NP_001394887.1:p.Asn1406fs frameshift NM_001407959.1:c.4173del NP_001394888.1:p.Asn1392fs frameshift NM_001407960.1:c.4170del NP_001394889.1:p.Asn1391fs frameshift NM_001407962.1:c.4170del NP_001394891.1:p.Asn1391fs frameshift NM_001407963.1:c.4167del NP_001394892.1:p.Asn1390fs frameshift NM_001407964.1:c.4214-3214del intron variant NM_001407965.1:c.4047del NP_001394894.1:p.Asn1350fs frameshift NM_001407966.1:c.3666del NP_001394895.1:p.Asn1223fs frameshift NM_001407967.1:c.3663del NP_001394896.1:p.Asn1222fs frameshift NM_001407968.1:c.1950del NP_001394897.1:p.Asn651fs frameshift NM_001407969.1:c.1947del NP_001394898.1:p.Asn650fs frameshift NM_001407970.1:c.1311del NP_001394899.1:p.Asn438fs frameshift NM_001407971.1:c.1311del NP_001394900.1:p.Asn438fs frameshift NM_001407972.1:c.1308del NP_001394901.1:p.Asn437fs frameshift NM_001407973.1:c.1245del NP_001394902.1:p.Asn416fs frameshift NM_001407974.1:c.1245del NP_001394903.1:p.Asn416fs frameshift NM_001407975.1:c.1245del NP_001394904.1:p.Asn416fs frameshift NM_001407976.1:c.1245del NP_001394905.1:p.Asn416fs frameshift NM_001407977.1:c.1245del NP_001394906.1:p.Asn416fs frameshift NM_001407978.1:c.1245del NP_001394907.1:p.Asn416fs frameshift NM_001407979.1:c.1242del NP_001394908.1:p.Asn415fs frameshift NM_001407980.1:c.1242del NP_001394909.1:p.Asn415fs frameshift NM_001407981.1:c.1242del NP_001394910.1:p.Asn415fs frameshift NM_001407982.1:c.1242del NP_001394911.1:p.Asn415fs frameshift NM_001407983.1:c.1242del NP_001394912.1:p.Asn415fs frameshift NM_001407984.1:c.1242del NP_001394913.1:p.Asn415fs frameshift NM_001407985.1:c.1242del NP_001394914.1:p.Asn415fs frameshift NM_001407986.1:c.1242del NP_001394915.1:p.Asn415fs frameshift NM_001407990.1:c.1242del NP_001394919.1:p.Asn415fs frameshift NM_001407991.1:c.1242del NP_001394920.1:p.Asn415fs frameshift NM_001407992.1:c.1242del NP_001394921.1:p.Asn415fs frameshift NM_001407993.1:c.1242del NP_001394922.1:p.Asn415fs frameshift NM_001408392.1:c.1239del NP_001395321.1:p.Asn414fs frameshift NM_001408396.1:c.1239del NP_001395325.1:p.Asn414fs frameshift NM_001408397.1:c.1239del NP_001395326.1:p.Asn414fs frameshift NM_001408398.1:c.1239del NP_001395327.1:p.Asn414fs frameshift NM_001408399.1:c.1239del NP_001395328.1:p.Asn414fs frameshift NM_001408400.1:c.1239del NP_001395329.1:p.Asn414fs frameshift NM_001408401.1:c.1239del NP_001395330.1:p.Asn414fs frameshift NM_001408402.1:c.1239del NP_001395331.1:p.Asn414fs frameshift NM_001408403.1:c.1239del NP_001395332.1:p.Asn414fs frameshift NM_001408404.1:c.1239del NP_001395333.1:p.Asn414fs frameshift NM_001408406.1:c.1236del NP_001395335.1:p.Asn413fs frameshift NM_001408407.1:c.1236del NP_001395336.1:p.Asn413fs frameshift NM_001408408.1:c.1236del NP_001395337.1:p.Asn413fs frameshift NM_001408409.1:c.1233del NP_001395338.1:p.Asn412fs frameshift NM_001408410.1:c.1170del NP_001395339.1:p.Asn391fs frameshift NM_001408411.1:c.1167del NP_001395340.1:p.Asn390fs frameshift NM_001408412.1:c.1164del NP_001395341.1:p.Asn389fs frameshift NM_001408413.1:c.1164del NP_001395342.1:p.Asn389fs frameshift NM_001408414.1:c.1164del NP_001395343.1:p.Asn389fs frameshift NM_001408415.1:c.1164del NP_001395344.1:p.Asn389fs frameshift NM_001408416.1:c.1164del NP_001395345.1:p.Asn389fs frameshift NM_001408418.1:c.1128del NP_001395347.1:p.Asn377fs frameshift NM_001408419.1:c.1128del NP_001395348.1:p.Asn377fs frameshift NM_001408420.1:c.1128del NP_001395349.1:p.Asn377fs frameshift NM_001408421.1:c.1125del NP_001395350.1:p.Asn376fs frameshift NM_001408422.1:c.1125del NP_001395351.1:p.Asn376fs frameshift NM_001408423.1:c.1125del NP_001395352.1:p.Asn376fs frameshift NM_001408424.1:c.1125del NP_001395353.1:p.Asn376fs frameshift NM_001408425.1:c.1122del NP_001395354.1:p.Asn375fs frameshift NM_001408426.1:c.1122del NP_001395355.1:p.Asn375fs frameshift NM_001408427.1:c.1122del NP_001395356.1:p.Asn375fs frameshift NM_001408428.1:c.1122del NP_001395357.1:p.Asn375fs frameshift NM_001408429.1:c.1122del NP_001395358.1:p.Asn375fs frameshift NM_001408430.1:c.1122del NP_001395359.1:p.Asn375fs frameshift NM_001408431.1:c.1122del NP_001395360.1:p.Asn375fs frameshift NM_001408432.1:c.1119del NP_001395361.1:p.Asn374fs frameshift NM_001408433.1:c.1119del NP_001395362.1:p.Asn374fs frameshift NM_001408434.1:c.1119del NP_001395363.1:p.Asn374fs frameshift NM_001408435.1:c.1119del NP_001395364.1:p.Asn374fs frameshift NM_001408436.1:c.1119del NP_001395365.1:p.Asn374fs frameshift NM_001408437.1:c.1119del NP_001395366.1:p.Asn374fs frameshift NM_001408438.1:c.1119del NP_001395367.1:p.Asn374fs frameshift NM_001408439.1:c.1119del NP_001395368.1:p.Asn374fs frameshift NM_001408440.1:c.1119del NP_001395369.1:p.Asn374fs frameshift NM_001408441.1:c.1119del NP_001395370.1:p.Asn374fs frameshift NM_001408442.1:c.1119del NP_001395371.1:p.Asn374fs frameshift NM_001408443.1:c.1119del NP_001395372.1:p.Asn374fs frameshift NM_001408444.1:c.1119del NP_001395373.1:p.Asn374fs frameshift NM_001408445.1:c.1116del NP_001395374.1:p.Asn373fs frameshift NM_001408446.1:c.1116del NP_001395375.1:p.Asn373fs frameshift NM_001408447.1:c.1116del NP_001395376.1:p.Asn373fs frameshift NM_001408448.1:c.1116del NP_001395377.1:p.Asn373fs frameshift NM_001408450.1:c.1116del NP_001395379.1:p.Asn373fs frameshift NM_001408451.1:c.1110del NP_001395380.1:p.Asn371fs frameshift NM_001408452.1:c.1104del NP_001395381.1:p.Asn369fs frameshift NM_001408453.1:c.1104del NP_001395382.1:p.Asn369fs frameshift NM_001408454.1:c.1104del NP_001395383.1:p.Asn369fs frameshift NM_001408455.1:c.1104del NP_001395384.1:p.Asn369fs frameshift NM_001408456.1:c.1104del NP_001395385.1:p.Asn369fs frameshift NM_001408457.1:c.1104del NP_001395386.1:p.Asn369fs frameshift NM_001408458.1:c.1101del NP_001395387.1:p.Asn368fs frameshift NM_001408459.1:c.1101del NP_001395388.1:p.Asn368fs frameshift NM_001408460.1:c.1101del NP_001395389.1:p.Asn368fs frameshift NM_001408461.1:c.1101del NP_001395390.1:p.Asn368fs frameshift NM_001408462.1:c.1101del NP_001395391.1:p.Asn368fs frameshift NM_001408463.1:c.1101del NP_001395392.1:p.Asn368fs frameshift NM_001408464.1:c.1101del NP_001395393.1:p.Asn368fs frameshift NM_001408465.1:c.1101del NP_001395394.1:p.Asn368fs frameshift NM_001408466.1:c.1101del NP_001395395.1:p.Asn368fs frameshift NM_001408467.1:c.1101del NP_001395396.1:p.Asn368fs frameshift NM_001408468.1:c.1098del NP_001395397.1:p.Asn367fs frameshift NM_001408469.1:c.1098del NP_001395398.1:p.Asn367fs frameshift NM_001408470.1:c.1098del NP_001395399.1:p.Asn367fs frameshift NM_001408472.1:c.1242del NP_001395401.1:p.Asn415fs frameshift NM_001408473.1:c.1239del NP_001395402.1:p.Asn414fs frameshift NM_001408474.1:c.1044del NP_001395403.1:p.Asn349fs frameshift NM_001408475.1:c.1041del NP_001395404.1:p.Asn348fs frameshift NM_001408476.1:c.1041del NP_001395405.1:p.Asn348fs frameshift NM_001408478.1:c.1035del NP_001395407.1:p.Asn346fs frameshift NM_001408479.1:c.1035del NP_001395408.1:p.Asn346fs frameshift NM_001408480.1:c.1035del NP_001395409.1:p.Asn346fs frameshift NM_001408481.1:c.1032del NP_001395410.1:p.Asn345fs frameshift NM_001408482.1:c.1032del NP_001395411.1:p.Asn345fs frameshift NM_001408483.1:c.1032del NP_001395412.1:p.Asn345fs frameshift NM_001408484.1:c.1032del NP_001395413.1:p.Asn345fs frameshift NM_001408485.1:c.1032del NP_001395414.1:p.Asn345fs frameshift NM_001408489.1:c.1032del NP_001395418.1:p.Asn345fs frameshift NM_001408490.1:c.1032del NP_001395419.1:p.Asn345fs frameshift NM_001408491.1:c.1032del NP_001395420.1:p.Asn345fs frameshift NM_001408492.1:c.1029del NP_001395421.1:p.Asn344fs frameshift NM_001408493.1:c.1029del NP_001395422.1:p.Asn344fs frameshift NM_001408494.1:c.1005del NP_001395423.1:p.Asn336fs frameshift NM_001408495.1:c.999del NP_001395424.1:p.Asn334fs frameshift NM_001408496.1:c.981del NP_001395425.1:p.Asn328fs frameshift NM_001408497.1:c.981del NP_001395426.1:p.Asn328fs frameshift NM_001408498.1:c.981del NP_001395427.1:p.Asn328fs frameshift NM_001408499.1:c.981del NP_001395428.1:p.Asn328fs frameshift NM_001408500.1:c.981del NP_001395429.1:p.Asn328fs frameshift NM_001408501.1:c.981del NP_001395430.1:p.Asn328fs frameshift NM_001408502.1:c.978del NP_001395431.1:p.Asn327fs frameshift NM_001408503.1:c.978del NP_001395432.1:p.Asn327fs frameshift NM_001408504.1:c.978del NP_001395433.1:p.Asn327fs frameshift NM_001408505.1:c.975del NP_001395434.1:p.Asn326fs frameshift NM_001408506.1:c.918del NP_001395435.1:p.Asn307fs frameshift NM_001408507.1:c.915del NP_001395436.1:p.Asn306fs frameshift NM_001408508.1:c.906del NP_001395437.1:p.Asn303fs frameshift NM_001408509.1:c.903del NP_001395438.1:p.Asn302fs frameshift NM_001408510.1:c.864del NP_001395439.1:p.Asn289fs frameshift NM_001408511.1:c.861del NP_001395440.1:p.Asn288fs frameshift NM_001408512.1:c.741del NP_001395441.1:p.Asn248fs frameshift NM_001408513.1:c.836-3214del intron variant NM_001408514.1:c.838+7952del intron variant NM_007297.4:c.4413del NP_009228.2:p.Asn1472fs frameshift NM_007298.4:c.1242del NP_009229.2:p.Asn415fs frameshift NM_007299.4:c.1242del NP_009230.2:p.Asn415fs frameshift NM_007300.4:c.4617del NP_009231.2:p.Asn1540fs frameshift NM_007304.2:c.1242delG NP_009235.2:p.Asn415Ilefs frameshift NR_027676.2:n.4731delG NC_000017.11:g.43074452del NC_000017.10:g.41226469del NG_005905.2:g.143532del LRG_292:g.143532del LRG_292t1:c.4554del LRG_292p1:p.Asn1519Ilefs - Protein change
- N1222fs, N1223fs, N1350fs, N1390fs, N1391fs, N1392fs, N1406fs, N1407fs, N1408fs, N1429fs, N1430fs, N1431fs, N1447fs, N1448fs, N1449fs, N1450fs, N1452fs, N1470fs, N1471fs, N1472fs, N1475fs, N1476fs, N1477fs, N1478fs, N1491fs, N1492fs, N1493fs, N1499fs, N1500fs, N1514fs, N1515fs, N1516fs, N1517fs, N1518fs, N1519fs, N1539fs, N1540fs, N1541fs, N248fs, N288fs, N289fs, N302fs, N303fs, N306fs, N307fs, N326fs, N327fs, N328fs, N334fs, N336fs, N344fs, N345fs, N346fs, N348fs, N349fs, N367fs, N368fs, N369fs, N371fs, N373fs, N374fs, N375fs, N376fs, N377fs, N389fs, N390fs, N391fs, N412fs, N413fs, N414fs, N415fs, N416fs, N437fs, N438fs, N650fs, N651fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074451:C:
-
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 |
13041 | 14847 | |
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
|
Feb 13, 2023 | RCV003317012.1 |
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
(Feb 13, 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: SCV004020179.1
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.