Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)
Variation ID: 252385 Accession: VCV000252385.15
- Type and length
-
Deletion, 2 bp
- Location
-
Cytogenetic: 17q21.31 17: 43067631-43067632 (GRCh38) [ NCBI UCSC ] 17: 41219648-41219649 (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 Aug 1, 2016 May 1, 2024 Sep 8, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5050_5051del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1684fs frameshift NM_001407571.1:c.4837_4838delAC NP_001394500.1:p.Thr1613Tyrfs frameshift NM_001407581.1:c.5116_5117delAC NP_001394510.1:p.Thr1706Tyrfs frameshift NM_001407582.1:c.5116_5117delAC NP_001394511.1:p.Thr1706Tyrfs frameshift NM_001407583.1:c.5113_5114delAC NP_001394512.1:p.Thr1705Tyrfs frameshift NM_001407585.1:c.5113_5114delAC NP_001394514.1:p.Thr1705Tyrfs frameshift NM_001407587.1:c.5113_5114delAC NP_001394516.1:p.Thr1705Tyrfs frameshift NM_001407590.1:c.5110_5111delAC NP_001394519.1:p.Thr1704Tyrfs frameshift NM_001407591.1:c.5110_5111delAC NP_001394520.1:p.Thr1704Tyrfs frameshift NM_001407593.1:c.5050_5051delAC NP_001394522.1:p.Thr1684Tyrfs frameshift NM_001407594.1:c.5050_5051delAC NP_001394523.1:p.Thr1684Tyrfs frameshift NM_001407596.1:c.5050_5051delAC NP_001394525.1:p.Thr1684Tyrfs frameshift NM_001407597.1:c.5050_5051delAC NP_001394526.1:p.Thr1684Tyrfs frameshift NM_001407598.1:c.5050_5051delAC NP_001394527.1:p.Thr1684Tyrfs frameshift NM_001407602.1:c.5050_5051delAC NP_001394531.1:p.Thr1684Tyrfs frameshift NM_001407603.1:c.5050_5051delAC NP_001394532.1:p.Thr1684Tyrfs frameshift NM_001407605.1:c.5050_5051delAC NP_001394534.1:p.Thr1684Tyrfs frameshift NM_001407610.1:c.5047_5048delAC NP_001394539.1:p.Thr1683Tyrfs frameshift NM_001407611.1:c.5047_5048delAC NP_001394540.1:p.Thr1683Tyrfs frameshift NM_001407612.1:c.5047_5048delAC NP_001394541.1:p.Thr1683Tyrfs frameshift NM_001407613.1:c.5047_5048delAC NP_001394542.1:p.Thr1683Tyrfs frameshift NM_001407614.1:c.5047_5048delAC NP_001394543.1:p.Thr1683Tyrfs frameshift NM_001407615.1:c.5047_5048delAC NP_001394544.1:p.Thr1683Tyrfs frameshift NM_001407616.1:c.5047_5048delAC NP_001394545.1:p.Thr1683Tyrfs frameshift NM_001407617.1:c.5047_5048delAC NP_001394546.1:p.Thr1683Tyrfs frameshift NM_001407618.1:c.5047_5048delAC NP_001394547.1:p.Thr1683Tyrfs frameshift NM_001407619.1:c.5047_5048delAC NP_001394548.1:p.Thr1683Tyrfs frameshift NM_001407620.1:c.5047_5048delAC NP_001394549.1:p.Thr1683Tyrfs frameshift NM_001407621.1:c.5047_5048delAC NP_001394550.1:p.Thr1683Tyrfs frameshift NM_001407622.1:c.5047_5048delAC NP_001394551.1:p.Thr1683Tyrfs frameshift NM_001407623.1:c.5047_5048delAC NP_001394552.1:p.Thr1683Tyrfs frameshift NM_001407624.1:c.5047_5048delAC NP_001394553.1:p.Thr1683Tyrfs frameshift NM_001407625.1:c.5047_5048delAC NP_001394554.1:p.Thr1683Tyrfs frameshift NM_001407626.1:c.5047_5048delAC NP_001394555.1:p.Thr1683Tyrfs frameshift NM_001407627.1:c.5044_5045delAC NP_001394556.1:p.Thr1682Tyrfs frameshift NM_001407628.1:c.5044_5045delAC NP_001394557.1:p.Thr1682Tyrfs frameshift NM_001407629.1:c.5044_5045delAC NP_001394558.1:p.Thr1682Tyrfs frameshift NM_001407630.1:c.5044_5045delAC NP_001394559.1:p.Thr1682Tyrfs frameshift NM_001407631.1:c.5044_5045delAC NP_001394560.1:p.Thr1682Tyrfs frameshift NM_001407632.1:c.5044_5045delAC NP_001394561.1:p.Thr1682Tyrfs frameshift NM_001407633.1:c.5044_5045delAC NP_001394562.1:p.Thr1682Tyrfs frameshift NM_001407634.1:c.5044_5045delAC NP_001394563.1:p.Thr1682Tyrfs frameshift NM_001407635.1:c.5044_5045delAC NP_001394564.1:p.Thr1682Tyrfs frameshift NM_001407636.1:c.5044_5045delAC NP_001394565.1:p.Thr1682Tyrfs frameshift NM_001407637.1:c.5044_5045delAC NP_001394566.1:p.Thr1682Tyrfs frameshift NM_001407638.1:c.5044_5045delAC NP_001394567.1:p.Thr1682Tyrfs frameshift NM_001407639.1:c.5044_5045delAC NP_001394568.1:p.Thr1682Tyrfs frameshift NM_001407640.1:c.5044_5045delAC NP_001394569.1:p.Thr1682Tyrfs frameshift NM_001407641.1:c.5044_5045delAC NP_001394570.1:p.Thr1682Tyrfs frameshift NM_001407642.1:c.5044_5045delAC NP_001394571.1:p.Thr1682Tyrfs frameshift NM_001407644.1:c.5041_5042delAC NP_001394573.1:p.Thr1681Tyrfs frameshift NM_001407645.1:c.5041_5042delAC NP_001394574.1:p.Thr1681Tyrfs frameshift NM_001407646.1:c.5038_5039delAC NP_001394575.1:p.Thr1680Tyrfs frameshift NM_001407647.1:c.5035_5036delAC NP_001394576.1:p.Thr1679Tyrfs frameshift NM_001407648.1:c.4993_4994delAC NP_001394577.1:p.Thr1665Tyrfs frameshift NM_001407649.1:c.4990_4991delAC NP_001394578.1:p.Thr1664Tyrfs frameshift NM_001407652.1:c.5050_5051delAC NP_001394581.1:p.Thr1684Tyrfs frameshift NM_001407653.1:c.4972_4973delAC NP_001394582.1:p.Thr1658Tyrfs frameshift NM_001407654.1:c.4972_4973delAC NP_001394583.1:p.Thr1658Tyrfs frameshift NM_001407655.1:c.4972_4973delAC NP_001394584.1:p.Thr1658Tyrfs frameshift NM_001407656.1:c.4969_4970delAC NP_001394585.1:p.Thr1657Tyrfs frameshift NM_001407657.1:c.4969_4970delAC NP_001394586.1:p.Thr1657Tyrfs frameshift NM_001407658.1:c.4969_4970delAC NP_001394587.1:p.Thr1657Tyrfs frameshift NM_001407659.1:c.4966_4967delAC NP_001394588.1:p.Thr1656Tyrfs frameshift NM_001407660.1:c.4966_4967delAC NP_001394589.1:p.Thr1656Tyrfs frameshift NM_001407661.1:c.4966_4967delAC NP_001394590.1:p.Thr1656Tyrfs frameshift NM_001407662.1:c.4966_4967delAC NP_001394591.1:p.Thr1656Tyrfs frameshift NM_001407663.1:c.4966_4967delAC NP_001394592.1:p.Thr1656Tyrfs frameshift NM_001407664.1:c.4927_4928delAC NP_001394593.1:p.Thr1643Tyrfs frameshift NM_001407665.1:c.4927_4928delAC NP_001394594.1:p.Thr1643Tyrfs frameshift NM_001407666.1:c.4927_4928delAC NP_001394595.1:p.Thr1643Tyrfs frameshift NM_001407667.1:c.4927_4928delAC NP_001394596.1:p.Thr1643Tyrfs frameshift NM_001407668.1:c.4927_4928delAC NP_001394597.1:p.Thr1643Tyrfs frameshift NM_001407669.1:c.4927_4928delAC NP_001394598.1:p.Thr1643Tyrfs frameshift NM_001407670.1:c.4924_4925delAC NP_001394599.1:p.Thr1642Tyrfs frameshift NM_001407671.1:c.4924_4925delAC NP_001394600.1:p.Thr1642Tyrfs frameshift NM_001407672.1:c.4924_4925delAC NP_001394601.1:p.Thr1642Tyrfs frameshift NM_001407673.1:c.4924_4925delAC NP_001394602.1:p.Thr1642Tyrfs frameshift NM_001407674.1:c.4924_4925delAC NP_001394603.1:p.Thr1642Tyrfs frameshift NM_001407675.1:c.4924_4925delAC NP_001394604.1:p.Thr1642Tyrfs frameshift NM_001407676.1:c.4924_4925delAC NP_001394605.1:p.Thr1642Tyrfs frameshift NM_001407677.1:c.4924_4925delAC NP_001394606.1:p.Thr1642Tyrfs frameshift NM_001407678.1:c.4924_4925delAC NP_001394607.1:p.Thr1642Tyrfs frameshift NM_001407679.1:c.4924_4925delAC NP_001394608.1:p.Thr1642Tyrfs frameshift NM_001407680.1:c.4924_4925delAC NP_001394609.1:p.Thr1642Tyrfs frameshift NM_001407681.1:c.4921_4922delAC NP_001394610.1:p.Thr1641Tyrfs frameshift NM_001407682.1:c.4921_4922delAC NP_001394611.1:p.Thr1641Tyrfs frameshift NM_001407683.1:c.4921_4922delAC NP_001394612.1:p.Thr1641Tyrfs frameshift NM_001407684.1:c.5050_5051delAC NP_001394613.1:p.Thr1684Tyrfs frameshift NM_001407685.1:c.4921_4922delAC NP_001394614.1:p.Thr1641Tyrfs frameshift NM_001407686.1:c.4921_4922delAC NP_001394615.1:p.Thr1641Tyrfs frameshift NM_001407687.1:c.4921_4922delAC NP_001394616.1:p.Thr1641Tyrfs frameshift NM_001407688.1:c.4921_4922delAC NP_001394617.1:p.Thr1641Tyrfs frameshift NM_001407689.1:c.4921_4922delAC NP_001394618.1:p.Thr1641Tyrfs frameshift NM_001407690.1:c.4918_4919delAC NP_001394619.1:p.Thr1640Tyrfs frameshift NM_001407691.1:c.4918_4919delAC NP_001394620.1:p.Thr1640Tyrfs frameshift NM_001407692.1:c.4909_4910delAC NP_001394621.1:p.Thr1637Tyrfs frameshift NM_001407694.1:c.4909_4910delAC NP_001394623.1:p.Thr1637Tyrfs frameshift NM_001407695.1:c.4909_4910delAC NP_001394624.1:p.Thr1637Tyrfs frameshift NM_001407696.1:c.4909_4910delAC NP_001394625.1:p.Thr1637Tyrfs frameshift NM_001407697.1:c.4909_4910delAC NP_001394626.1:p.Thr1637Tyrfs frameshift NM_001407698.1:c.4909_4910delAC NP_001394627.1:p.Thr1637Tyrfs frameshift NM_001407724.1:c.4909_4910delAC NP_001394653.1:p.Thr1637Tyrfs frameshift NM_001407725.1:c.4909_4910delAC NP_001394654.1:p.Thr1637Tyrfs frameshift NM_001407726.1:c.4909_4910delAC NP_001394655.1:p.Thr1637Tyrfs frameshift NM_001407727.1:c.4909_4910delAC NP_001394656.1:p.Thr1637Tyrfs frameshift NM_001407728.1:c.4909_4910delAC NP_001394657.1:p.Thr1637Tyrfs frameshift NM_001407729.1:c.4909_4910delAC NP_001394658.1:p.Thr1637Tyrfs frameshift NM_001407730.1:c.4909_4910delAC NP_001394659.1:p.Thr1637Tyrfs frameshift NM_001407731.1:c.4909_4910delAC NP_001394660.1:p.Thr1637Tyrfs frameshift NM_001407732.1:c.4906_4907delAC NP_001394661.1:p.Thr1636Tyrfs frameshift NM_001407733.1:c.4906_4907delAC NP_001394662.1:p.Thr1636Tyrfs frameshift NM_001407734.1:c.4906_4907delAC NP_001394663.1:p.Thr1636Tyrfs frameshift NM_001407735.1:c.4906_4907delAC NP_001394664.1:p.Thr1636Tyrfs frameshift NM_001407736.1:c.4906_4907delAC NP_001394665.1:p.Thr1636Tyrfs frameshift NM_001407737.1:c.4906_4907delAC NP_001394666.1:p.Thr1636Tyrfs frameshift NM_001407738.1:c.4906_4907delAC NP_001394667.1:p.Thr1636Tyrfs frameshift NM_001407739.1:c.4906_4907delAC NP_001394668.1:p.Thr1636Tyrfs frameshift NM_001407740.1:c.4906_4907delAC NP_001394669.1:p.Thr1636Tyrfs frameshift NM_001407741.1:c.4906_4907delAC NP_001394670.1:p.Thr1636Tyrfs frameshift NM_001407742.1:c.4906_4907delAC NP_001394671.1:p.Thr1636Tyrfs frameshift NM_001407743.1:c.4906_4907delAC NP_001394672.1:p.Thr1636Tyrfs frameshift NM_001407744.1:c.4906_4907delAC NP_001394673.1:p.Thr1636Tyrfs frameshift NM_001407745.1:c.4906_4907delAC NP_001394674.1:p.Thr1636Tyrfs frameshift NM_001407746.1:c.4906_4907delAC NP_001394675.1:p.Thr1636Tyrfs frameshift NM_001407747.1:c.4906_4907delAC NP_001394676.1:p.Thr1636Tyrfs frameshift NM_001407748.1:c.4906_4907delAC NP_001394677.1:p.Thr1636Tyrfs frameshift NM_001407749.1:c.4906_4907delAC NP_001394678.1:p.Thr1636Tyrfs frameshift NM_001407750.1:c.4906_4907delAC NP_001394679.1:p.Thr1636Tyrfs frameshift NM_001407751.1:c.4906_4907delAC NP_001394680.1:p.Thr1636Tyrfs frameshift NM_001407752.1:c.4906_4907delAC NP_001394681.1:p.Thr1636Tyrfs frameshift NM_001407838.1:c.4903_4904delAC NP_001394767.1:p.Thr1635Tyrfs frameshift NM_001407839.1:c.4903_4904delAC NP_001394768.1:p.Thr1635Tyrfs frameshift NM_001407841.1:c.4903_4904delAC NP_001394770.1:p.Thr1635Tyrfs frameshift NM_001407842.1:c.4903_4904delAC NP_001394771.1:p.Thr1635Tyrfs frameshift NM_001407843.1:c.4903_4904delAC NP_001394772.1:p.Thr1635Tyrfs frameshift NM_001407844.1:c.4903_4904delAC NP_001394773.1:p.Thr1635Tyrfs frameshift NM_001407845.1:c.4903_4904delAC NP_001394774.1:p.Thr1635Tyrfs frameshift NM_001407846.1:c.4903_4904delAC NP_001394775.1:p.Thr1635Tyrfs frameshift NM_001407847.1:c.4903_4904delAC NP_001394776.1:p.Thr1635Tyrfs frameshift NM_001407848.1:c.4903_4904delAC NP_001394777.1:p.Thr1635Tyrfs frameshift NM_001407849.1:c.4903_4904delAC NP_001394778.1:p.Thr1635Tyrfs frameshift NM_001407850.1:c.4903_4904delAC NP_001394779.1:p.Thr1635Tyrfs frameshift NM_001407851.1:c.4903_4904delAC NP_001394780.1:p.Thr1635Tyrfs frameshift NM_001407852.1:c.4903_4904delAC NP_001394781.1:p.Thr1635Tyrfs frameshift NM_001407853.1:c.4903_4904delAC NP_001394782.1:p.Thr1635Tyrfs frameshift NM_001407854.1:c.5050_5051delAC NP_001394783.1:p.Thr1684Tyrfs frameshift NM_001407858.1:c.5047_5048delAC NP_001394787.1:p.Thr1683Tyrfs frameshift NM_001407859.1:c.5047_5048delAC NP_001394788.1:p.Thr1683Tyrfs frameshift NM_001407860.1:c.5047_5048delAC NP_001394789.1:p.Thr1683Tyrfs frameshift NM_001407861.1:c.5044_5045delAC NP_001394790.1:p.Thr1682Tyrfs frameshift NM_001407862.1:c.4849_4850delAC NP_001394791.1:p.Thr1617Tyrfs frameshift NM_001407863.1:c.4924_4925delAC NP_001394792.1:p.Thr1642Tyrfs frameshift NM_001407874.1:c.4843_4844delAC NP_001394803.1:p.Thr1615Tyrfs frameshift NM_001407875.1:c.4843_4844delAC NP_001394804.1:p.Thr1615Tyrfs frameshift NM_001407879.1:c.4840_4841delAC NP_001394808.1:p.Thr1614Tyrfs frameshift NM_001407881.1:c.4840_4841delAC NP_001394810.1:p.Thr1614Tyrfs frameshift NM_001407882.1:c.4840_4841delAC NP_001394811.1:p.Thr1614Tyrfs frameshift NM_001407884.1:c.4840_4841delAC NP_001394813.1:p.Thr1614Tyrfs frameshift NM_001407885.1:c.4840_4841delAC NP_001394814.1:p.Thr1614Tyrfs frameshift NM_001407886.1:c.4840_4841delAC NP_001394815.1:p.Thr1614Tyrfs frameshift NM_001407887.1:c.4840_4841delAC NP_001394816.1:p.Thr1614Tyrfs frameshift NM_001407889.1:c.4840_4841delAC NP_001394818.1:p.Thr1614Tyrfs frameshift NM_001407894.1:c.4837_4838delAC NP_001394823.1:p.Thr1613Tyrfs frameshift NM_001407895.1:c.4837_4838delAC NP_001394824.1:p.Thr1613Tyrfs frameshift NM_001407896.1:c.4837_4838delAC NP_001394825.1:p.Thr1613Tyrfs frameshift NM_001407897.1:c.4837_4838delAC NP_001394826.1:p.Thr1613Tyrfs frameshift NM_001407898.1:c.4837_4838delAC NP_001394827.1:p.Thr1613Tyrfs frameshift NM_001407899.1:c.4837_4838delAC NP_001394828.1:p.Thr1613Tyrfs frameshift NM_001407900.1:c.4837_4838delAC NP_001394829.1:p.Thr1613Tyrfs frameshift NM_001407902.1:c.4837_4838delAC NP_001394831.1:p.Thr1613Tyrfs frameshift NM_001407904.1:c.4837_4838delAC NP_001394833.1:p.Thr1613Tyrfs frameshift NM_001407906.1:c.4837_4838delAC NP_001394835.1:p.Thr1613Tyrfs frameshift NM_001407907.1:c.4837_4838delAC NP_001394836.1:p.Thr1613Tyrfs frameshift NM_001407908.1:c.4837_4838delAC NP_001394837.1:p.Thr1613Tyrfs frameshift NM_001407909.1:c.4837_4838delAC NP_001394838.1:p.Thr1613Tyrfs frameshift NM_001407910.1:c.4837_4838delAC NP_001394839.1:p.Thr1613Tyrfs frameshift NM_001407915.1:c.4834_4835delAC NP_001394844.1:p.Thr1612Tyrfs frameshift NM_001407916.1:c.4834_4835delAC NP_001394845.1:p.Thr1612Tyrfs frameshift NM_001407917.1:c.4834_4835delAC NP_001394846.1:p.Thr1612Tyrfs frameshift NM_001407918.1:c.4834_4835delAC NP_001394847.1:p.Thr1612Tyrfs frameshift NM_001407919.1:c.4927_4928delAC NP_001394848.1:p.Thr1643Tyrfs frameshift NM_001407920.1:c.4786_4787delAC NP_001394849.1:p.Thr1596Tyrfs frameshift NM_001407921.1:c.4786_4787delAC NP_001394850.1:p.Thr1596Tyrfs frameshift NM_001407922.1:c.4786_4787delAC NP_001394851.1:p.Thr1596Tyrfs frameshift NM_001407923.1:c.4786_4787delAC NP_001394852.1:p.Thr1596Tyrfs frameshift NM_001407924.1:c.4786_4787delAC NP_001394853.1:p.Thr1596Tyrfs frameshift NM_001407925.1:c.4786_4787delAC NP_001394854.1:p.Thr1596Tyrfs frameshift NM_001407926.1:c.4786_4787delAC NP_001394855.1:p.Thr1596Tyrfs frameshift NM_001407927.1:c.4783_4784delAC NP_001394856.1:p.Thr1595Tyrfs frameshift NM_001407928.1:c.4783_4784delAC NP_001394857.1:p.Thr1595Tyrfs frameshift NM_001407929.1:c.4783_4784delAC NP_001394858.1:p.Thr1595Tyrfs frameshift NM_001407930.1:c.4783_4784delAC NP_001394859.1:p.Thr1595Tyrfs frameshift NM_001407931.1:c.4783_4784delAC NP_001394860.1:p.Thr1595Tyrfs frameshift NM_001407932.1:c.4783_4784delAC NP_001394861.1:p.Thr1595Tyrfs frameshift NM_001407933.1:c.4783_4784delAC NP_001394862.1:p.Thr1595Tyrfs frameshift NM_001407934.1:c.4780_4781delAC NP_001394863.1:p.Thr1594Tyrfs frameshift NM_001407935.1:c.4780_4781delAC NP_001394864.1:p.Thr1594Tyrfs frameshift NM_001407936.1:c.4780_4781delAC NP_001394865.1:p.Thr1594Tyrfs frameshift NM_001407937.1:c.4927_4928delAC NP_001394866.1:p.Thr1643Tyrfs frameshift NM_001407938.1:c.4927_4928delAC NP_001394867.1:p.Thr1643Tyrfs frameshift NM_001407939.1:c.4924_4925delAC NP_001394868.1:p.Thr1642Tyrfs frameshift NM_001407940.1:c.4924_4925delAC NP_001394869.1:p.Thr1642Tyrfs frameshift NM_001407941.1:c.4921_4922delAC NP_001394870.1:p.Thr1641Tyrfs frameshift NM_001407942.1:c.4909_4910delAC NP_001394871.1:p.Thr1637Tyrfs frameshift NM_001407943.1:c.4906_4907delAC NP_001394872.1:p.Thr1636Tyrfs frameshift NM_001407944.1:c.4906_4907delAC NP_001394873.1:p.Thr1636Tyrfs frameshift NM_001407945.1:c.4906_4907delAC NP_001394874.1:p.Thr1636Tyrfs frameshift NM_001407946.1:c.4717_4718delAC NP_001394875.1:p.Thr1573Tyrfs frameshift NM_001407947.1:c.4717_4718delAC NP_001394876.1:p.Thr1573Tyrfs frameshift NM_001407948.1:c.4717_4718delAC NP_001394877.1:p.Thr1573Tyrfs frameshift NM_001407949.1:c.4717_4718delAC NP_001394878.1:p.Thr1573Tyrfs frameshift NM_001407950.1:c.4714_4715delAC NP_001394879.1:p.Thr1572Tyrfs frameshift NM_001407951.1:c.4714_4715delAC NP_001394880.1:p.Thr1572Tyrfs frameshift NM_001407952.1:c.4714_4715delAC NP_001394881.1:p.Thr1572Tyrfs frameshift NM_001407953.1:c.4714_4715delAC NP_001394882.1:p.Thr1572Tyrfs frameshift NM_001407954.1:c.4714_4715delAC NP_001394883.1:p.Thr1572Tyrfs frameshift NM_001407955.1:c.4714_4715delAC NP_001394884.1:p.Thr1572Tyrfs frameshift NM_001407956.1:c.4711_4712delAC NP_001394885.1:p.Thr1571Tyrfs frameshift NM_001407957.1:c.4711_4712delAC NP_001394886.1:p.Thr1571Tyrfs frameshift NM_001407958.1:c.4711_4712delAC NP_001394887.1:p.Thr1571Tyrfs frameshift NM_001407959.1:c.4669_4670delAC NP_001394888.1:p.Thr1557Tyrfs frameshift NM_001407960.1:c.4666_4667delAC NP_001394889.1:p.Thr1556Tyrfs frameshift NM_001407962.1:c.4666_4667delAC NP_001394891.1:p.Thr1556Tyrfs frameshift NM_001407963.1:c.4663_4664delAC NP_001394892.1:p.Thr1555Tyrfs frameshift NM_001407964.1:c.4588_4589delAC NP_001394893.1:p.Thr1530Tyrfs frameshift NM_001407965.1:c.4543_4544delAC NP_001394894.1:p.Thr1515Tyrfs frameshift NM_001407966.1:c.4162_4163delAC NP_001394895.1:p.Thr1388Tyrfs frameshift NM_001407967.1:c.4159_4160delAC NP_001394896.1:p.Thr1387Tyrfs frameshift NM_001407968.1:c.2446_2447delAC NP_001394897.1:p.Thr816Tyrfs frameshift NM_001407969.1:c.2443_2444delAC NP_001394898.1:p.Thr815Tyrfs frameshift NM_001407970.1:c.1807_1808delAC NP_001394899.1:p.Thr603Tyrfs frameshift NM_001407971.1:c.1807_1808delAC NP_001394900.1:p.Thr603Tyrfs frameshift NM_001407972.1:c.1804_1805delAC NP_001394901.1:p.Thr602Tyrfs frameshift NM_001407973.1:c.1741_1742delAC NP_001394902.1:p.Thr581Tyrfs frameshift NM_001407974.1:c.1741_1742delAC NP_001394903.1:p.Thr581Tyrfs frameshift NM_001407975.1:c.1741_1742delAC NP_001394904.1:p.Thr581Tyrfs frameshift NM_001407976.1:c.1741_1742delAC NP_001394905.1:p.Thr581Tyrfs frameshift NM_001407977.1:c.1741_1742delAC NP_001394906.1:p.Thr581Tyrfs frameshift NM_001407978.1:c.1741_1742delAC NP_001394907.1:p.Thr581Tyrfs frameshift NM_001407979.1:c.1738_1739delAC NP_001394908.1:p.Thr580Tyrfs frameshift NM_001407980.1:c.1738_1739delAC NP_001394909.1:p.Thr580Tyrfs frameshift NM_001407981.1:c.1738_1739delAC NP_001394910.1:p.Thr580Tyrfs frameshift NM_001407982.1:c.1738_1739delAC NP_001394911.1:p.Thr580Tyrfs frameshift NM_001407983.1:c.1738_1739delAC NP_001394912.1:p.Thr580Tyrfs frameshift NM_001407984.1:c.1738_1739delAC NP_001394913.1:p.Thr580Tyrfs frameshift NM_001407985.1:c.1738_1739delAC NP_001394914.1:p.Thr580Tyrfs frameshift NM_001407986.1:c.1738_1739delAC NP_001394915.1:p.Thr580Tyrfs frameshift NM_001407990.1:c.1738_1739delAC NP_001394919.1:p.Thr580Tyrfs frameshift NM_001407991.1:c.1738_1739delAC NP_001394920.1:p.Thr580Tyrfs frameshift NM_001407992.1:c.1738_1739delAC NP_001394921.1:p.Thr580Tyrfs frameshift NM_001407993.1:c.1738_1739delAC NP_001394922.1:p.Thr580Tyrfs frameshift NM_001408392.1:c.1735_1736delAC NP_001395321.1:p.Thr579Tyrfs frameshift NM_001408396.1:c.1735_1736delAC NP_001395325.1:p.Thr579Tyrfs frameshift NM_001408397.1:c.1735_1736delAC NP_001395326.1:p.Thr579Tyrfs frameshift NM_001408398.1:c.1735_1736delAC NP_001395327.1:p.Thr579Tyrfs frameshift NM_001408399.1:c.1735_1736delAC NP_001395328.1:p.Thr579Tyrfs frameshift NM_001408400.1:c.1735_1736delAC NP_001395329.1:p.Thr579Tyrfs frameshift NM_001408401.1:c.1735_1736delAC NP_001395330.1:p.Thr579Tyrfs frameshift NM_001408402.1:c.1735_1736delAC NP_001395331.1:p.Thr579Tyrfs frameshift NM_001408403.1:c.1735_1736delAC NP_001395332.1:p.Thr579Tyrfs frameshift NM_001408404.1:c.1735_1736delAC NP_001395333.1:p.Thr579Tyrfs frameshift NM_001408406.1:c.1732_1733delAC NP_001395335.1:p.Thr578Tyrfs frameshift NM_001408407.1:c.1732_1733delAC NP_001395336.1:p.Thr578Tyrfs frameshift NM_001408408.1:c.1732_1733delAC NP_001395337.1:p.Thr578Tyrfs frameshift NM_001408409.1:c.1729_1730delAC NP_001395338.1:p.Thr577Tyrfs frameshift NM_001408410.1:c.1666_1667delAC NP_001395339.1:p.Thr556Tyrfs frameshift NM_001408411.1:c.1663_1664delAC NP_001395340.1:p.Thr555Tyrfs frameshift NM_001408412.1:c.1660_1661delAC NP_001395341.1:p.Thr554Tyrfs frameshift NM_001408413.1:c.1660_1661delAC NP_001395342.1:p.Thr554Tyrfs frameshift NM_001408414.1:c.1660_1661delAC NP_001395343.1:p.Thr554Tyrfs frameshift NM_001408415.1:c.1660_1661delAC NP_001395344.1:p.Thr554Tyrfs frameshift NM_001408416.1:c.1660_1661delAC NP_001395345.1:p.Thr554Tyrfs frameshift NM_001408418.1:c.1624_1625delAC NP_001395347.1:p.Thr542Tyrfs frameshift NM_001408419.1:c.1624_1625delAC NP_001395348.1:p.Thr542Tyrfs frameshift NM_001408420.1:c.1624_1625delAC NP_001395349.1:p.Thr542Tyrfs frameshift NM_001408421.1:c.1621_1622delAC NP_001395350.1:p.Thr541Tyrfs frameshift NM_001408422.1:c.1621_1622delAC NP_001395351.1:p.Thr541Tyrfs frameshift NM_001408423.1:c.1621_1622delAC NP_001395352.1:p.Thr541Tyrfs frameshift NM_001408424.1:c.1621_1622delAC NP_001395353.1:p.Thr541Tyrfs frameshift NM_001408425.1:c.1618_1619delAC NP_001395354.1:p.Thr540Tyrfs frameshift NM_001408426.1:c.1618_1619delAC NP_001395355.1:p.Thr540Tyrfs frameshift NM_001408427.1:c.1618_1619delAC NP_001395356.1:p.Thr540Tyrfs frameshift NM_001408428.1:c.1618_1619delAC NP_001395357.1:p.Thr540Tyrfs frameshift NM_001408429.1:c.1618_1619delAC NP_001395358.1:p.Thr540Tyrfs frameshift NM_001408430.1:c.1618_1619delAC NP_001395359.1:p.Thr540Tyrfs frameshift NM_001408431.1:c.1618_1619delAC NP_001395360.1:p.Thr540Tyrfs frameshift NM_001408432.1:c.1615_1616delAC NP_001395361.1:p.Thr539Tyrfs frameshift NM_001408433.1:c.1615_1616delAC NP_001395362.1:p.Thr539Tyrfs frameshift NM_001408434.1:c.1615_1616delAC NP_001395363.1:p.Thr539Tyrfs frameshift NM_001408435.1:c.1615_1616delAC NP_001395364.1:p.Thr539Tyrfs frameshift NM_001408436.1:c.1615_1616delAC NP_001395365.1:p.Thr539Tyrfs frameshift NM_001408437.1:c.1615_1616delAC NP_001395366.1:p.Thr539Tyrfs frameshift NM_001408438.1:c.1615_1616delAC NP_001395367.1:p.Thr539Tyrfs frameshift NM_001408439.1:c.1615_1616delAC NP_001395368.1:p.Thr539Tyrfs frameshift NM_001408440.1:c.1615_1616delAC NP_001395369.1:p.Thr539Tyrfs frameshift NM_001408441.1:c.1615_1616delAC NP_001395370.1:p.Thr539Tyrfs frameshift NM_001408442.1:c.1615_1616delAC NP_001395371.1:p.Thr539Tyrfs frameshift NM_001408443.1:c.1615_1616delAC NP_001395372.1:p.Thr539Tyrfs frameshift NM_001408444.1:c.1615_1616delAC NP_001395373.1:p.Thr539Tyrfs frameshift NM_001408445.1:c.1612_1613delAC NP_001395374.1:p.Thr538Tyrfs frameshift NM_001408446.1:c.1612_1613delAC NP_001395375.1:p.Thr538Tyrfs frameshift NM_001408447.1:c.1612_1613delAC NP_001395376.1:p.Thr538Tyrfs frameshift NM_001408448.1:c.1612_1613delAC NP_001395377.1:p.Thr538Tyrfs frameshift NM_001408450.1:c.1612_1613delAC NP_001395379.1:p.Thr538Tyrfs frameshift NM_001408451.1:c.1606_1607delAC NP_001395380.1:p.Thr536Tyrfs frameshift NM_001408452.1:c.1600_1601delAC NP_001395381.1:p.Thr534Tyrfs frameshift NM_001408453.1:c.1600_1601delAC NP_001395382.1:p.Thr534Tyrfs frameshift NM_001408454.1:c.1600_1601delAC NP_001395383.1:p.Thr534Tyrfs frameshift NM_001408455.1:c.1600_1601delAC NP_001395384.1:p.Thr534Tyrfs frameshift NM_001408456.1:c.1600_1601delAC NP_001395385.1:p.Thr534Tyrfs frameshift NM_001408457.1:c.1600_1601delAC NP_001395386.1:p.Thr534Tyrfs frameshift NM_001408458.1:c.1597_1598delAC NP_001395387.1:p.Thr533Tyrfs frameshift NM_001408459.1:c.1597_1598delAC NP_001395388.1:p.Thr533Tyrfs frameshift NM_001408460.1:c.1597_1598delAC NP_001395389.1:p.Thr533Tyrfs frameshift NM_001408461.1:c.1597_1598delAC NP_001395390.1:p.Thr533Tyrfs frameshift NM_001408462.1:c.1597_1598delAC NP_001395391.1:p.Thr533Tyrfs frameshift NM_001408463.1:c.1597_1598delAC NP_001395392.1:p.Thr533Tyrfs frameshift NM_001408464.1:c.1597_1598delAC NP_001395393.1:p.Thr533Tyrfs frameshift NM_001408465.1:c.1597_1598delAC NP_001395394.1:p.Thr533Tyrfs frameshift NM_001408466.1:c.1597_1598delAC NP_001395395.1:p.Thr533Tyrfs frameshift NM_001408467.1:c.1597_1598delAC NP_001395396.1:p.Thr533Tyrfs frameshift NM_001408468.1:c.1594_1595delAC NP_001395397.1:p.Thr532Tyrfs frameshift NM_001408469.1:c.1594_1595delAC NP_001395398.1:p.Thr532Tyrfs frameshift NM_001408470.1:c.1594_1595delAC NP_001395399.1:p.Thr532Tyrfs frameshift NM_001408472.1:c.1738_1739delAC NP_001395401.1:p.Thr580Tyrfs frameshift NM_001408473.1:c.1735_1736delAC NP_001395402.1:p.Thr579Tyrfs frameshift NM_001408474.1:c.1540_1541delAC NP_001395403.1:p.Thr514Tyrfs frameshift NM_001408475.1:c.1537_1538delAC NP_001395404.1:p.Thr513Tyrfs frameshift NM_001408476.1:c.1537_1538delAC NP_001395405.1:p.Thr513Tyrfs frameshift NM_001408478.1:c.1531_1532delAC NP_001395407.1:p.Thr511Tyrfs frameshift NM_001408479.1:c.1531_1532delAC NP_001395408.1:p.Thr511Tyrfs frameshift NM_001408480.1:c.1531_1532delAC NP_001395409.1:p.Thr511Tyrfs frameshift NM_001408481.1:c.1528_1529delAC NP_001395410.1:p.Thr510Tyrfs frameshift NM_001408482.1:c.1528_1529delAC NP_001395411.1:p.Thr510Tyrfs frameshift NM_001408483.1:c.1528_1529delAC NP_001395412.1:p.Thr510Tyrfs frameshift NM_001408484.1:c.1528_1529delAC NP_001395413.1:p.Thr510Tyrfs frameshift NM_001408485.1:c.1528_1529delAC NP_001395414.1:p.Thr510Tyrfs frameshift NM_001408489.1:c.1528_1529delAC NP_001395418.1:p.Thr510Tyrfs frameshift NM_001408490.1:c.1528_1529delAC NP_001395419.1:p.Thr510Tyrfs frameshift NM_001408491.1:c.1528_1529delAC NP_001395420.1:p.Thr510Tyrfs frameshift NM_001408492.1:c.1525_1526delAC NP_001395421.1:p.Thr509Tyrfs frameshift NM_001408493.1:c.1525_1526delAC NP_001395422.1:p.Thr509Tyrfs frameshift NM_001408494.1:c.1501_1502delAC NP_001395423.1:p.Thr501Tyrfs frameshift NM_001408495.1:c.1495_1496delAC NP_001395424.1:p.Thr499Tyrfs frameshift NM_001408496.1:c.1477_1478delAC NP_001395425.1:p.Thr493Tyrfs frameshift NM_001408497.1:c.1477_1478delAC NP_001395426.1:p.Thr493Tyrfs frameshift NM_001408498.1:c.1477_1478delAC NP_001395427.1:p.Thr493Tyrfs frameshift NM_001408499.1:c.1477_1478delAC NP_001395428.1:p.Thr493Tyrfs frameshift NM_001408500.1:c.1477_1478delAC NP_001395429.1:p.Thr493Tyrfs frameshift NM_001408501.1:c.1477_1478delAC NP_001395430.1:p.Thr493Tyrfs frameshift NM_001408502.1:c.1474_1475delAC NP_001395431.1:p.Thr492Tyrfs frameshift NM_001408503.1:c.1474_1475delAC NP_001395432.1:p.Thr492Tyrfs frameshift NM_001408504.1:c.1474_1475delAC NP_001395433.1:p.Thr492Tyrfs frameshift NM_001408505.1:c.1471_1472delAC NP_001395434.1:p.Thr491Tyrfs frameshift NM_001408506.1:c.1414_1415delAC NP_001395435.1:p.Thr472Tyrfs frameshift NM_001408507.1:c.1411_1412delAC NP_001395436.1:p.Thr471Tyrfs frameshift NM_001408508.1:c.1402_1403delAC NP_001395437.1:p.Thr468Tyrfs frameshift NM_001408509.1:c.1399_1400delAC NP_001395438.1:p.Thr467Tyrfs frameshift NM_001408510.1:c.1360_1361delAC NP_001395439.1:p.Thr454Tyrfs frameshift NM_001408511.1:c.1357_1358delAC NP_001395440.1:p.Thr453Tyrfs frameshift NM_001408512.1:c.1237_1238delAC NP_001395441.1:p.Thr413Tyrfs frameshift NM_001408513.1:c.1210_1211delAC NP_001395442.1:p.Thr404Tyrfs frameshift NM_007297.4:c.4909_4910del NP_009228.2:p.Thr1637fs frameshift NM_007298.4:c.1738_1739delAC NP_009229.2:p.Thr580Tyrfs frameshift NM_007299.4:c.1738_1739del NP_009230.2:p.Thr580fs frameshift NM_007300.4:c.5113_5114del NP_009231.2:p.Thr1705fs frameshift NM_007304.2:c.1738_1739delAC NP_009235.2:p.Thr580Tyrfs frameshift NR_027676.2:n.5227_5228del non-coding transcript variant NC_000017.11:g.43067631_43067632del NC_000017.10:g.41219648_41219649del NG_005905.2:g.150352_150353del LRG_292:g.150352_150353del LRG_292t1:c.5050_5051del LRG_292p1:p.Thr1684Tyrfs - Protein change
- T1637fs, T1684fs, T1705fs, T580fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43067630:GT:
-
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 (3) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000239167.7 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Aug 7, 2023 | RCV000539566.9 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Aug 9, 2021 | RCV000565393.4 |
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
(Sep 08, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000300192.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Likely pathogenic
(Mar 05, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296433.2
First in ClinVar: Aug 01, 2016 Last updated: Jan 01, 2022 |
Indication for testing: Hereditary breast and ovarian cancer syndrome (HBOC)
|
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326120.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Aug 07, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000636005.5
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA … (more)
For these reasons, this variant has been classified as Pathogenic. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 252385). This premature translational stop signal has been observed in individual(s) with BRCA1-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1684Tyrfs*10) 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). (less)
|
|
|
Pathogenic
(Aug 09, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000661123.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The c.5050_5051delAC pathogenic mutation, located in coding exon 15 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 5050 to … (more)
The c.5050_5051delAC pathogenic mutation, located in coding exon 15 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 5050 to 5051, causing a translational frameshift with a predicted alternate stop codon (p.T1684Yfs*10). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
Comment:
Comment:
For these reasons, this variant has been classified as Pathogenic. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 252385). This premature translational stop signal has been observed in individual(s) with BRCA1-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1684Tyrfs*10) 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).
Comment:
The c.5050_5051delAC pathogenic mutation, located in coding exon 15 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 5050 to 5051, causing a translational frameshift with a predicted alternate stop codon (p.T1684Yfs*10). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
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:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
For these reasons, this variant has been classified as Pathogenic. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 252385). This premature translational stop signal has been observed in individual(s) with BRCA1-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1684Tyrfs*10) 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).
Comment:
The c.5050_5051delAC pathogenic mutation, located in coding exon 15 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 5050 to 5051, causing a translational frameshift with a predicted alternate stop codon (p.T1684Yfs*10). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
| LOVD v.2.0: the next generation in gene variant databases. | Fokkema IF | Human mutation | 2011 | PMID: 21520333 |
| 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 rs879255283 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record 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.