Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4453_4474del (p.Thr1485fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Oct 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4453_4474del (p.Thr1485fs)
Variation ID: 266477 Accession: VCV000266477.6
- Type and length
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Deletion, 22 bp
- Location
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Cytogenetic: 17q21.31 17: 43076498-43076519 (GRCh38) [ NCBI UCSC ] 17: 41228515-41228536 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4453_4474del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1485fs frameshift NM_001407571.1:c.4240_4261del22 NP_001394500.1:p.Thr1414Glufs frameshift NM_001407581.1:c.4519_4540del22 NP_001394510.1:p.Thr1507Glufs frameshift NM_001407582.1:c.4519_4540del22 NP_001394511.1:p.Thr1507Glufs frameshift NM_001407583.1:c.4516_4537del22 NP_001394512.1:p.Thr1506Glufs frameshift NM_001407585.1:c.4516_4537del22 NP_001394514.1:p.Thr1506Glufs frameshift NM_001407587.1:c.4516_4537del22 NP_001394516.1:p.Thr1506Glufs frameshift NM_001407590.1:c.4513_4534del22 NP_001394519.1:p.Thr1505Glufs frameshift NM_001407591.1:c.4513_4534del22 NP_001394520.1:p.Thr1505Glufs frameshift NM_001407593.1:c.4453_4474del22 NP_001394522.1:p.Thr1485Glufs frameshift NM_001407594.1:c.4453_4474del22 NP_001394523.1:p.Thr1485Glufs frameshift NM_001407596.1:c.4453_4474del22 NP_001394525.1:p.Thr1485Glufs frameshift NM_001407597.1:c.4453_4474del22 NP_001394526.1:p.Thr1485Glufs frameshift NM_001407598.1:c.4453_4474del22 NP_001394527.1:p.Thr1485Glufs frameshift NM_001407602.1:c.4453_4474del22 NP_001394531.1:p.Thr1485Glufs frameshift NM_001407603.1:c.4453_4474del22 NP_001394532.1:p.Thr1485Glufs frameshift NM_001407605.1:c.4453_4474del22 NP_001394534.1:p.Thr1485Glufs frameshift NM_001407610.1:c.4450_4471del22 NP_001394539.1:p.Thr1484Glufs frameshift NM_001407611.1:c.4450_4471del22 NP_001394540.1:p.Thr1484Glufs frameshift NM_001407612.1:c.4450_4471del22 NP_001394541.1:p.Thr1484Glufs frameshift NM_001407613.1:c.4450_4471del22 NP_001394542.1:p.Thr1484Glufs frameshift NM_001407614.1:c.4450_4471del22 NP_001394543.1:p.Thr1484Glufs frameshift NM_001407615.1:c.4450_4471del22 NP_001394544.1:p.Thr1484Glufs frameshift NM_001407616.1:c.4450_4471del22 NP_001394545.1:p.Thr1484Glufs frameshift NM_001407617.1:c.4450_4471del22 NP_001394546.1:p.Thr1484Glufs frameshift NM_001407618.1:c.4450_4471del22 NP_001394547.1:p.Thr1484Glufs frameshift NM_001407619.1:c.4450_4471del22 NP_001394548.1:p.Thr1484Glufs frameshift NM_001407620.1:c.4450_4471del22 NP_001394549.1:p.Thr1484Glufs frameshift NM_001407621.1:c.4450_4471del22 NP_001394550.1:p.Thr1484Glufs frameshift NM_001407622.1:c.4450_4471del22 NP_001394551.1:p.Thr1484Glufs frameshift NM_001407623.1:c.4450_4471del22 NP_001394552.1:p.Thr1484Glufs frameshift NM_001407624.1:c.4450_4471del22 NP_001394553.1:p.Thr1484Glufs frameshift NM_001407625.1:c.4450_4471del22 NP_001394554.1:p.Thr1484Glufs frameshift NM_001407626.1:c.4450_4471del22 NP_001394555.1:p.Thr1484Glufs frameshift NM_001407627.1:c.4447_4468del22 NP_001394556.1:p.Thr1483Glufs frameshift NM_001407628.1:c.4447_4468del22 NP_001394557.1:p.Thr1483Glufs frameshift NM_001407629.1:c.4447_4468del22 NP_001394558.1:p.Thr1483Glufs frameshift NM_001407630.1:c.4447_4468del22 NP_001394559.1:p.Thr1483Glufs frameshift NM_001407631.1:c.4447_4468del22 NP_001394560.1:p.Thr1483Glufs frameshift NM_001407632.1:c.4447_4468del22 NP_001394561.1:p.Thr1483Glufs frameshift NM_001407633.1:c.4447_4468del22 NP_001394562.1:p.Thr1483Glufs frameshift NM_001407634.1:c.4447_4468del22 NP_001394563.1:p.Thr1483Glufs frameshift NM_001407635.1:c.4447_4468del22 NP_001394564.1:p.Thr1483Glufs frameshift NM_001407636.1:c.4447_4468del22 NP_001394565.1:p.Thr1483Glufs frameshift NM_001407637.1:c.4447_4468del22 NP_001394566.1:p.Thr1483Glufs frameshift NM_001407638.1:c.4447_4468del22 NP_001394567.1:p.Thr1483Glufs frameshift NM_001407639.1:c.4447_4468del22 NP_001394568.1:p.Thr1483Glufs frameshift NM_001407640.1:c.4447_4468del22 NP_001394569.1:p.Thr1483Glufs frameshift NM_001407641.1:c.4447_4468del22 NP_001394570.1:p.Thr1483Glufs frameshift NM_001407642.1:c.4447_4468del22 NP_001394571.1:p.Thr1483Glufs frameshift NM_001407644.1:c.4444_4465del22 NP_001394573.1:p.Thr1482Glufs frameshift NM_001407645.1:c.4444_4465del22 NP_001394574.1:p.Thr1482Glufs frameshift NM_001407646.1:c.4441_4462del22 NP_001394575.1:p.Thr1481Glufs frameshift NM_001407647.1:c.4438_4459del22 NP_001394576.1:p.Thr1480Glufs frameshift NM_001407648.1:c.4396_4417del22 NP_001394577.1:p.Thr1466Glufs frameshift NM_001407649.1:c.4393_4414del22 NP_001394578.1:p.Thr1465Glufs frameshift NM_001407652.1:c.4453_4474del22 NP_001394581.1:p.Thr1485Glufs frameshift NM_001407653.1:c.4375_4396del22 NP_001394582.1:p.Thr1459Glufs frameshift NM_001407654.1:c.4375_4396del22 NP_001394583.1:p.Thr1459Glufs frameshift NM_001407655.1:c.4375_4396del22 NP_001394584.1:p.Thr1459Glufs frameshift NM_001407656.1:c.4372_4393del22 NP_001394585.1:p.Thr1458Glufs frameshift NM_001407657.1:c.4372_4393del22 NP_001394586.1:p.Thr1458Glufs frameshift NM_001407658.1:c.4372_4393del22 NP_001394587.1:p.Thr1458Glufs frameshift NM_001407659.1:c.4369_4390del22 NP_001394588.1:p.Thr1457Glufs frameshift NM_001407660.1:c.4369_4390del22 NP_001394589.1:p.Thr1457Glufs frameshift NM_001407661.1:c.4369_4390del22 NP_001394590.1:p.Thr1457Glufs frameshift NM_001407662.1:c.4369_4390del22 NP_001394591.1:p.Thr1457Glufs frameshift NM_001407663.1:c.4369_4390del22 NP_001394592.1:p.Thr1457Glufs frameshift NM_001407664.1:c.4330_4351del22 NP_001394593.1:p.Thr1444Glufs frameshift NM_001407665.1:c.4330_4351del22 NP_001394594.1:p.Thr1444Glufs frameshift NM_001407666.1:c.4330_4351del22 NP_001394595.1:p.Thr1444Glufs frameshift NM_001407667.1:c.4330_4351del22 NP_001394596.1:p.Thr1444Glufs frameshift NM_001407668.1:c.4330_4351del22 NP_001394597.1:p.Thr1444Glufs frameshift NM_001407669.1:c.4330_4351del22 NP_001394598.1:p.Thr1444Glufs frameshift NM_001407670.1:c.4327_4348del22 NP_001394599.1:p.Thr1443Glufs frameshift NM_001407671.1:c.4327_4348del22 NP_001394600.1:p.Thr1443Glufs frameshift NM_001407672.1:c.4327_4348del22 NP_001394601.1:p.Thr1443Glufs frameshift NM_001407673.1:c.4327_4348del22 NP_001394602.1:p.Thr1443Glufs frameshift NM_001407674.1:c.4327_4348del22 NP_001394603.1:p.Thr1443Glufs frameshift NM_001407675.1:c.4327_4348del22 NP_001394604.1:p.Thr1443Glufs frameshift NM_001407676.1:c.4327_4348del22 NP_001394605.1:p.Thr1443Glufs frameshift NM_001407677.1:c.4327_4348del22 NP_001394606.1:p.Thr1443Glufs frameshift NM_001407678.1:c.4327_4348del22 NP_001394607.1:p.Thr1443Glufs frameshift NM_001407679.1:c.4327_4348del22 NP_001394608.1:p.Thr1443Glufs frameshift NM_001407680.1:c.4327_4348del22 NP_001394609.1:p.Thr1443Glufs frameshift NM_001407681.1:c.4324_4345del22 NP_001394610.1:p.Thr1442Glufs frameshift NM_001407682.1:c.4324_4345del22 NP_001394611.1:p.Thr1442Glufs frameshift NM_001407683.1:c.4324_4345del22 NP_001394612.1:p.Thr1442Glufs frameshift NM_001407684.1:c.4453_4474del22 NP_001394613.1:p.Thr1485Glufs frameshift NM_001407685.1:c.4324_4345del22 NP_001394614.1:p.Thr1442Glufs frameshift NM_001407686.1:c.4324_4345del22 NP_001394615.1:p.Thr1442Glufs frameshift NM_001407687.1:c.4324_4345del22 NP_001394616.1:p.Thr1442Glufs frameshift NM_001407688.1:c.4324_4345del22 NP_001394617.1:p.Thr1442Glufs frameshift NM_001407689.1:c.4324_4345del22 NP_001394618.1:p.Thr1442Glufs frameshift NM_001407690.1:c.4321_4342del22 NP_001394619.1:p.Thr1441Glufs frameshift NM_001407691.1:c.4321_4342del22 NP_001394620.1:p.Thr1441Glufs frameshift NM_001407692.1:c.4312_4333del22 NP_001394621.1:p.Thr1438Glufs frameshift NM_001407694.1:c.4312_4333del22 NP_001394623.1:p.Thr1438Glufs frameshift NM_001407695.1:c.4312_4333del22 NP_001394624.1:p.Thr1438Glufs frameshift NM_001407696.1:c.4312_4333del22 NP_001394625.1:p.Thr1438Glufs frameshift NM_001407697.1:c.4312_4333del22 NP_001394626.1:p.Thr1438Glufs frameshift NM_001407698.1:c.4312_4333del22 NP_001394627.1:p.Thr1438Glufs frameshift NM_001407724.1:c.4312_4333del22 NP_001394653.1:p.Thr1438Glufs frameshift NM_001407725.1:c.4312_4333del22 NP_001394654.1:p.Thr1438Glufs frameshift NM_001407726.1:c.4312_4333del22 NP_001394655.1:p.Thr1438Glufs frameshift NM_001407727.1:c.4312_4333del22 NP_001394656.1:p.Thr1438Glufs frameshift NM_001407728.1:c.4312_4333del22 NP_001394657.1:p.Thr1438Glufs frameshift NM_001407729.1:c.4312_4333del22 NP_001394658.1:p.Thr1438Glufs frameshift NM_001407730.1:c.4312_4333del22 NP_001394659.1:p.Thr1438Glufs frameshift NM_001407731.1:c.4312_4333del22 NP_001394660.1:p.Thr1438Glufs frameshift NM_001407732.1:c.4309_4330del22 NP_001394661.1:p.Thr1437Glufs frameshift NM_001407733.1:c.4309_4330del22 NP_001394662.1:p.Thr1437Glufs frameshift NM_001407734.1:c.4309_4330del22 NP_001394663.1:p.Thr1437Glufs frameshift NM_001407735.1:c.4309_4330del22 NP_001394664.1:p.Thr1437Glufs frameshift NM_001407736.1:c.4309_4330del22 NP_001394665.1:p.Thr1437Glufs frameshift NM_001407737.1:c.4309_4330del22 NP_001394666.1:p.Thr1437Glufs frameshift NM_001407738.1:c.4309_4330del22 NP_001394667.1:p.Thr1437Glufs frameshift NM_001407739.1:c.4309_4330del22 NP_001394668.1:p.Thr1437Glufs frameshift NM_001407740.1:c.4309_4330del22 NP_001394669.1:p.Thr1437Glufs frameshift NM_001407741.1:c.4309_4330del22 NP_001394670.1:p.Thr1437Glufs frameshift NM_001407742.1:c.4309_4330del22 NP_001394671.1:p.Thr1437Glufs frameshift NM_001407743.1:c.4309_4330del22 NP_001394672.1:p.Thr1437Glufs frameshift NM_001407744.1:c.4309_4330del22 NP_001394673.1:p.Thr1437Glufs frameshift NM_001407745.1:c.4309_4330del22 NP_001394674.1:p.Thr1437Glufs frameshift NM_001407746.1:c.4309_4330del22 NP_001394675.1:p.Thr1437Glufs frameshift NM_001407747.1:c.4309_4330del22 NP_001394676.1:p.Thr1437Glufs frameshift NM_001407748.1:c.4309_4330del22 NP_001394677.1:p.Thr1437Glufs frameshift NM_001407749.1:c.4309_4330del22 NP_001394678.1:p.Thr1437Glufs frameshift NM_001407750.1:c.4309_4330del22 NP_001394679.1:p.Thr1437Glufs frameshift NM_001407751.1:c.4309_4330del22 NP_001394680.1:p.Thr1437Glufs frameshift NM_001407752.1:c.4309_4330del22 NP_001394681.1:p.Thr1437Glufs frameshift NM_001407838.1:c.4306_4327del22 NP_001394767.1:p.Thr1436Glufs frameshift NM_001407839.1:c.4306_4327del22 NP_001394768.1:p.Thr1436Glufs frameshift NM_001407841.1:c.4306_4327del22 NP_001394770.1:p.Thr1436Glufs frameshift NM_001407842.1:c.4306_4327del22 NP_001394771.1:p.Thr1436Glufs frameshift NM_001407843.1:c.4306_4327del22 NP_001394772.1:p.Thr1436Glufs frameshift NM_001407844.1:c.4306_4327del22 NP_001394773.1:p.Thr1436Glufs frameshift NM_001407845.1:c.4306_4327del22 NP_001394774.1:p.Thr1436Glufs frameshift NM_001407846.1:c.4306_4327del22 NP_001394775.1:p.Thr1436Glufs frameshift NM_001407847.1:c.4306_4327del22 NP_001394776.1:p.Thr1436Glufs frameshift NM_001407848.1:c.4306_4327del22 NP_001394777.1:p.Thr1436Glufs frameshift NM_001407849.1:c.4306_4327del22 NP_001394778.1:p.Thr1436Glufs frameshift NM_001407850.1:c.4306_4327del22 NP_001394779.1:p.Thr1436Glufs frameshift NM_001407851.1:c.4306_4327del22 NP_001394780.1:p.Thr1436Glufs frameshift NM_001407852.1:c.4306_4327del22 NP_001394781.1:p.Thr1436Glufs frameshift NM_001407853.1:c.4306_4327del22 NP_001394782.1:p.Thr1436Glufs frameshift NM_001407854.1:c.4453_4474del22 NP_001394783.1:p.Thr1485Glufs frameshift NM_001407858.1:c.4450_4471del22 NP_001394787.1:p.Thr1484Glufs frameshift NM_001407859.1:c.4450_4471del22 NP_001394788.1:p.Thr1484Glufs frameshift NM_001407860.1:c.4450_4471del22 NP_001394789.1:p.Thr1484Glufs frameshift NM_001407861.1:c.4447_4468del22 NP_001394790.1:p.Thr1483Glufs frameshift NM_001407862.1:c.4252_4273del22 NP_001394791.1:p.Thr1418Glufs frameshift NM_001407863.1:c.4327_4348del22 NP_001394792.1:p.Thr1443Glufs frameshift NM_001407874.1:c.4246_4267del22 NP_001394803.1:p.Thr1416Glufs frameshift NM_001407875.1:c.4246_4267del22 NP_001394804.1:p.Thr1416Glufs frameshift NM_001407879.1:c.4243_4264del22 NP_001394808.1:p.Thr1415Glufs frameshift NM_001407881.1:c.4243_4264del22 NP_001394810.1:p.Thr1415Glufs frameshift NM_001407882.1:c.4243_4264del22 NP_001394811.1:p.Thr1415Glufs frameshift NM_001407884.1:c.4243_4264del22 NP_001394813.1:p.Thr1415Glufs frameshift NM_001407885.1:c.4243_4264del22 NP_001394814.1:p.Thr1415Glufs frameshift NM_001407886.1:c.4243_4264del22 NP_001394815.1:p.Thr1415Glufs frameshift NM_001407887.1:c.4243_4264del22 NP_001394816.1:p.Thr1415Glufs frameshift NM_001407889.1:c.4243_4264del22 NP_001394818.1:p.Thr1415Glufs frameshift NM_001407894.1:c.4240_4261del22 NP_001394823.1:p.Thr1414Glufs frameshift NM_001407895.1:c.4240_4261del22 NP_001394824.1:p.Thr1414Glufs frameshift NM_001407896.1:c.4240_4261del22 NP_001394825.1:p.Thr1414Glufs frameshift NM_001407897.1:c.4240_4261del22 NP_001394826.1:p.Thr1414Glufs frameshift NM_001407898.1:c.4240_4261del22 NP_001394827.1:p.Thr1414Glufs frameshift NM_001407899.1:c.4240_4261del22 NP_001394828.1:p.Thr1414Glufs frameshift NM_001407900.1:c.4240_4261del22 NP_001394829.1:p.Thr1414Glufs frameshift NM_001407902.1:c.4240_4261del22 NP_001394831.1:p.Thr1414Glufs frameshift NM_001407904.1:c.4240_4261del22 NP_001394833.1:p.Thr1414Glufs frameshift NM_001407906.1:c.4240_4261del22 NP_001394835.1:p.Thr1414Glufs frameshift NM_001407907.1:c.4240_4261del22 NP_001394836.1:p.Thr1414Glufs frameshift NM_001407908.1:c.4240_4261del22 NP_001394837.1:p.Thr1414Glufs frameshift NM_001407909.1:c.4240_4261del22 NP_001394838.1:p.Thr1414Glufs frameshift NM_001407910.1:c.4240_4261del22 NP_001394839.1:p.Thr1414Glufs frameshift NM_001407915.1:c.4237_4258del22 NP_001394844.1:p.Thr1413Glufs frameshift NM_001407916.1:c.4237_4258del22 NP_001394845.1:p.Thr1413Glufs frameshift NM_001407917.1:c.4237_4258del22 NP_001394846.1:p.Thr1413Glufs frameshift NM_001407918.1:c.4237_4258del22 NP_001394847.1:p.Thr1413Glufs frameshift NM_001407919.1:c.4330_4351del22 NP_001394848.1:p.Thr1444Glufs frameshift NM_001407920.1:c.4189_4210del22 NP_001394849.1:p.Thr1397Glufs frameshift NM_001407921.1:c.4189_4210del22 NP_001394850.1:p.Thr1397Glufs frameshift NM_001407922.1:c.4189_4210del22 NP_001394851.1:p.Thr1397Glufs frameshift NM_001407923.1:c.4189_4210del22 NP_001394852.1:p.Thr1397Glufs frameshift NM_001407924.1:c.4189_4210del22 NP_001394853.1:p.Thr1397Glufs frameshift NM_001407925.1:c.4189_4210del22 NP_001394854.1:p.Thr1397Glufs frameshift NM_001407926.1:c.4189_4210del22 NP_001394855.1:p.Thr1397Glufs frameshift NM_001407927.1:c.4186_4207del22 NP_001394856.1:p.Thr1396Glufs frameshift NM_001407928.1:c.4186_4207del22 NP_001394857.1:p.Thr1396Glufs frameshift NM_001407929.1:c.4186_4207del22 NP_001394858.1:p.Thr1396Glufs frameshift NM_001407930.1:c.4186_4207del22 NP_001394859.1:p.Thr1396Glufs frameshift NM_001407931.1:c.4186_4207del22 NP_001394860.1:p.Thr1396Glufs frameshift NM_001407932.1:c.4186_4207del22 NP_001394861.1:p.Thr1396Glufs frameshift NM_001407933.1:c.4186_4207del22 NP_001394862.1:p.Thr1396Glufs frameshift NM_001407934.1:c.4183_4204del22 NP_001394863.1:p.Thr1395Glufs frameshift NM_001407935.1:c.4183_4204del22 NP_001394864.1:p.Thr1395Glufs frameshift NM_001407936.1:c.4183_4204del22 NP_001394865.1:p.Thr1395Glufs frameshift NM_001407937.1:c.4330_4351del22 NP_001394866.1:p.Thr1444Glufs frameshift NM_001407938.1:c.4330_4351del22 NP_001394867.1:p.Thr1444Glufs frameshift NM_001407939.1:c.4327_4348del22 NP_001394868.1:p.Thr1443Glufs frameshift NM_001407940.1:c.4327_4348del22 NP_001394869.1:p.Thr1443Glufs frameshift NM_001407941.1:c.4324_4345del22 NP_001394870.1:p.Thr1442Glufs frameshift NM_001407942.1:c.4312_4333del22 NP_001394871.1:p.Thr1438Glufs frameshift NM_001407943.1:c.4309_4330del22 NP_001394872.1:p.Thr1437Glufs frameshift NM_001407944.1:c.4309_4330del22 NP_001394873.1:p.Thr1437Glufs frameshift NM_001407945.1:c.4309_4330del22 NP_001394874.1:p.Thr1437Glufs frameshift NM_001407946.1:c.4120_4141del22 NP_001394875.1:p.Thr1374Glufs frameshift NM_001407947.1:c.4120_4141del22 NP_001394876.1:p.Thr1374Glufs frameshift NM_001407948.1:c.4120_4141del22 NP_001394877.1:p.Thr1374Glufs frameshift NM_001407949.1:c.4120_4141del22 NP_001394878.1:p.Thr1374Glufs frameshift NM_001407950.1:c.4117_4138del22 NP_001394879.1:p.Thr1373Glufs frameshift NM_001407951.1:c.4117_4138del22 NP_001394880.1:p.Thr1373Glufs frameshift NM_001407952.1:c.4117_4138del22 NP_001394881.1:p.Thr1373Glufs frameshift NM_001407953.1:c.4117_4138del22 NP_001394882.1:p.Thr1373Glufs frameshift NM_001407954.1:c.4117_4138del22 NP_001394883.1:p.Thr1373Glufs frameshift NM_001407955.1:c.4117_4138del22 NP_001394884.1:p.Thr1373Glufs frameshift NM_001407956.1:c.4114_4135del22 NP_001394885.1:p.Thr1372Glufs frameshift NM_001407957.1:c.4114_4135del22 NP_001394886.1:p.Thr1372Glufs frameshift NM_001407958.1:c.4114_4135del22 NP_001394887.1:p.Thr1372Glufs frameshift NM_001407959.1:c.4072_4093del22 NP_001394888.1:p.Thr1358Glufs frameshift NM_001407960.1:c.4069_4090del22 NP_001394889.1:p.Thr1357Glufs frameshift NM_001407962.1:c.4069_4090del22 NP_001394891.1:p.Thr1357Glufs frameshift NM_001407963.1:c.4066_4087del22 NP_001394892.1:p.Thr1356Glufs frameshift NM_001407965.1:c.3946_3967del22 NP_001394894.1:p.Thr1316Glufs frameshift NM_001407966.1:c.3565_3586del22 NP_001394895.1:p.Thr1189Glufs frameshift NM_001407967.1:c.3562_3583del22 NP_001394896.1:p.Thr1188Glufs frameshift NM_001407968.1:c.1849_1870del22 NP_001394897.1:p.Thr617Glufs frameshift NM_001407969.1:c.1846_1867del22 NP_001394898.1:p.Thr616Glufs frameshift NM_001407970.1:c.1210_1231del22 NP_001394899.1:p.Thr404Glufs frameshift NM_001407971.1:c.1210_1231del22 NP_001394900.1:p.Thr404Glufs frameshift NM_001407972.1:c.1207_1228del22 NP_001394901.1:p.Thr403Glufs frameshift NM_001407973.1:c.1144_1165del22 NP_001394902.1:p.Thr382Glufs frameshift NM_001407974.1:c.1144_1165del22 NP_001394903.1:p.Thr382Glufs frameshift NM_001407975.1:c.1144_1165del22 NP_001394904.1:p.Thr382Glufs frameshift NM_001407976.1:c.1144_1165del22 NP_001394905.1:p.Thr382Glufs frameshift NM_001407977.1:c.1144_1165del22 NP_001394906.1:p.Thr382Glufs frameshift NM_001407978.1:c.1144_1165del22 NP_001394907.1:p.Thr382Glufs frameshift NM_001407979.1:c.1141_1162del22 NP_001394908.1:p.Thr381Glufs frameshift NM_001407980.1:c.1141_1162del22 NP_001394909.1:p.Thr381Glufs frameshift NM_001407981.1:c.1141_1162del22 NP_001394910.1:p.Thr381Glufs frameshift NM_001407982.1:c.1141_1162del22 NP_001394911.1:p.Thr381Glufs frameshift NM_001407983.1:c.1141_1162del22 NP_001394912.1:p.Thr381Glufs frameshift NM_001407984.1:c.1141_1162del22 NP_001394913.1:p.Thr381Glufs frameshift NM_001407985.1:c.1141_1162del22 NP_001394914.1:p.Thr381Glufs frameshift NM_001407986.1:c.1141_1162del22 NP_001394915.1:p.Thr381Glufs frameshift NM_001407990.1:c.1141_1162del22 NP_001394919.1:p.Thr381Glufs frameshift NM_001407991.1:c.1141_1162del22 NP_001394920.1:p.Thr381Glufs frameshift NM_001407992.1:c.1141_1162del22 NP_001394921.1:p.Thr381Glufs frameshift NM_001407993.1:c.1141_1162del22 NP_001394922.1:p.Thr381Glufs frameshift NM_001408392.1:c.1138_1159del22 NP_001395321.1:p.Thr380Glufs frameshift NM_001408396.1:c.1138_1159del22 NP_001395325.1:p.Thr380Glufs frameshift NM_001408397.1:c.1138_1159del22 NP_001395326.1:p.Thr380Glufs frameshift NM_001408398.1:c.1138_1159del22 NP_001395327.1:p.Thr380Glufs frameshift NM_001408399.1:c.1138_1159del22 NP_001395328.1:p.Thr380Glufs frameshift NM_001408400.1:c.1138_1159del22 NP_001395329.1:p.Thr380Glufs frameshift NM_001408401.1:c.1138_1159del22 NP_001395330.1:p.Thr380Glufs frameshift NM_001408402.1:c.1138_1159del22 NP_001395331.1:p.Thr380Glufs frameshift NM_001408403.1:c.1138_1159del22 NP_001395332.1:p.Thr380Glufs frameshift NM_001408404.1:c.1138_1159del22 NP_001395333.1:p.Thr380Glufs frameshift NM_001408406.1:c.1135_1156del22 NP_001395335.1:p.Thr379Glufs frameshift NM_001408407.1:c.1135_1156del22 NP_001395336.1:p.Thr379Glufs frameshift NM_001408408.1:c.1135_1156del22 NP_001395337.1:p.Thr379Glufs frameshift NM_001408409.1:c.1132_1153del22 NP_001395338.1:p.Thr378Glufs frameshift NM_001408410.1:c.1069_1090del22 NP_001395339.1:p.Thr357Glufs frameshift NM_001408411.1:c.1066_1087del22 NP_001395340.1:p.Thr356Glufs frameshift NM_001408412.1:c.1063_1084del22 NP_001395341.1:p.Thr355Glufs frameshift NM_001408413.1:c.1063_1084del22 NP_001395342.1:p.Thr355Glufs frameshift NM_001408414.1:c.1063_1084del22 NP_001395343.1:p.Thr355Glufs frameshift NM_001408415.1:c.1063_1084del22 NP_001395344.1:p.Thr355Glufs frameshift NM_001408416.1:c.1063_1084del22 NP_001395345.1:p.Thr355Glufs frameshift NM_001408418.1:c.1027_1048del22 NP_001395347.1:p.Thr343Glufs frameshift NM_001408419.1:c.1027_1048del22 NP_001395348.1:p.Thr343Glufs frameshift NM_001408420.1:c.1027_1048del22 NP_001395349.1:p.Thr343Glufs frameshift NM_001408421.1:c.1024_1045del22 NP_001395350.1:p.Thr342Glufs frameshift NM_001408422.1:c.1024_1045del22 NP_001395351.1:p.Thr342Glufs frameshift NM_001408423.1:c.1024_1045del22 NP_001395352.1:p.Thr342Glufs frameshift NM_001408424.1:c.1024_1045del22 NP_001395353.1:p.Thr342Glufs frameshift NM_001408425.1:c.1021_1042del22 NP_001395354.1:p.Thr341Glufs frameshift NM_001408426.1:c.1021_1042del22 NP_001395355.1:p.Thr341Glufs frameshift NM_001408427.1:c.1021_1042del22 NP_001395356.1:p.Thr341Glufs frameshift NM_001408428.1:c.1021_1042del22 NP_001395357.1:p.Thr341Glufs frameshift NM_001408429.1:c.1021_1042del22 NP_001395358.1:p.Thr341Glufs frameshift NM_001408430.1:c.1021_1042del22 NP_001395359.1:p.Thr341Glufs frameshift NM_001408431.1:c.1021_1042del22 NP_001395360.1:p.Thr341Glufs frameshift NM_001408432.1:c.1018_1039del22 NP_001395361.1:p.Thr340Glufs frameshift NM_001408433.1:c.1018_1039del22 NP_001395362.1:p.Thr340Glufs frameshift NM_001408434.1:c.1018_1039del22 NP_001395363.1:p.Thr340Glufs frameshift NM_001408435.1:c.1018_1039del22 NP_001395364.1:p.Thr340Glufs frameshift NM_001408436.1:c.1018_1039del22 NP_001395365.1:p.Thr340Glufs frameshift NM_001408437.1:c.1018_1039del22 NP_001395366.1:p.Thr340Glufs frameshift NM_001408438.1:c.1018_1039del22 NP_001395367.1:p.Thr340Glufs frameshift NM_001408439.1:c.1018_1039del22 NP_001395368.1:p.Thr340Glufs frameshift NM_001408440.1:c.1018_1039del22 NP_001395369.1:p.Thr340Glufs frameshift NM_001408441.1:c.1018_1039del22 NP_001395370.1:p.Thr340Glufs frameshift NM_001408442.1:c.1018_1039del22 NP_001395371.1:p.Thr340Glufs frameshift NM_001408443.1:c.1018_1039del22 NP_001395372.1:p.Thr340Glufs frameshift NM_001408444.1:c.1018_1039del22 NP_001395373.1:p.Thr340Glufs frameshift NM_001408445.1:c.1015_1036del22 NP_001395374.1:p.Thr339Glufs frameshift NM_001408446.1:c.1015_1036del22 NP_001395375.1:p.Thr339Glufs frameshift NM_001408447.1:c.1015_1036del22 NP_001395376.1:p.Thr339Glufs frameshift NM_001408448.1:c.1015_1036del22 NP_001395377.1:p.Thr339Glufs frameshift NM_001408450.1:c.1015_1036del22 NP_001395379.1:p.Thr339Glufs frameshift NM_001408451.1:c.1009_1030del22 NP_001395380.1:p.Thr337Glufs frameshift NM_001408452.1:c.1003_1024del22 NP_001395381.1:p.Thr335Glufs frameshift NM_001408453.1:c.1003_1024del22 NP_001395382.1:p.Thr335Glufs frameshift NM_001408454.1:c.1003_1024del22 NP_001395383.1:p.Thr335Glufs frameshift NM_001408455.1:c.1003_1024del22 NP_001395384.1:p.Thr335Glufs frameshift NM_001408456.1:c.1003_1024del22 NP_001395385.1:p.Thr335Glufs frameshift NM_001408457.1:c.1003_1024del22 NP_001395386.1:p.Thr335Glufs frameshift NM_001408458.1:c.1000_1021del22 NP_001395387.1:p.Thr334Glufs frameshift NM_001408459.1:c.1000_1021del22 NP_001395388.1:p.Thr334Glufs frameshift NM_001408460.1:c.1000_1021del22 NP_001395389.1:p.Thr334Glufs frameshift NM_001408461.1:c.1000_1021del22 NP_001395390.1:p.Thr334Glufs frameshift NM_001408462.1:c.1000_1021del22 NP_001395391.1:p.Thr334Glufs frameshift NM_001408463.1:c.1000_1021del22 NP_001395392.1:p.Thr334Glufs frameshift NM_001408464.1:c.1000_1021del22 NP_001395393.1:p.Thr334Glufs frameshift NM_001408465.1:c.1000_1021del22 NP_001395394.1:p.Thr334Glufs frameshift NM_001408466.1:c.1000_1021del22 NP_001395395.1:p.Thr334Glufs frameshift NM_001408467.1:c.1000_1021del22 NP_001395396.1:p.Thr334Glufs frameshift NM_001408468.1:c.997_1018del22 NP_001395397.1:p.Thr333Glufs frameshift NM_001408469.1:c.997_1018del22 NP_001395398.1:p.Thr333Glufs frameshift NM_001408470.1:c.997_1018del22 NP_001395399.1:p.Thr333Glufs frameshift NM_001408472.1:c.1141_1162del22 NP_001395401.1:p.Thr381Glufs frameshift NM_001408473.1:c.1138_1159del22 NP_001395402.1:p.Thr380Glufs frameshift NM_001408474.1:c.943_964del22 NP_001395403.1:p.Thr315Glufs frameshift NM_001408475.1:c.940_961del22 NP_001395404.1:p.Thr314Glufs frameshift NM_001408476.1:c.940_961del22 NP_001395405.1:p.Thr314Glufs frameshift NM_001408478.1:c.934_955del22 NP_001395407.1:p.Thr312Glufs frameshift NM_001408479.1:c.934_955del22 NP_001395408.1:p.Thr312Glufs frameshift NM_001408480.1:c.934_955del22 NP_001395409.1:p.Thr312Glufs frameshift NM_001408481.1:c.931_952del22 NP_001395410.1:p.Thr311Glufs frameshift NM_001408482.1:c.931_952del22 NP_001395411.1:p.Thr311Glufs frameshift NM_001408483.1:c.931_952del22 NP_001395412.1:p.Thr311Glufs frameshift NM_001408484.1:c.931_952del22 NP_001395413.1:p.Thr311Glufs frameshift NM_001408485.1:c.931_952del22 NP_001395414.1:p.Thr311Glufs frameshift NM_001408489.1:c.931_952del22 NP_001395418.1:p.Thr311Glufs frameshift NM_001408490.1:c.931_952del22 NP_001395419.1:p.Thr311Glufs frameshift NM_001408491.1:c.931_952del22 NP_001395420.1:p.Thr311Glufs frameshift NM_001408492.1:c.928_949del22 NP_001395421.1:p.Thr310Glufs frameshift NM_001408493.1:c.928_949del22 NP_001395422.1:p.Thr310Glufs frameshift NM_001408494.1:c.904_925del22 NP_001395423.1:p.Thr302Glufs frameshift NM_001408495.1:c.898_919del22 NP_001395424.1:p.Thr300Glufs frameshift NM_001408496.1:c.880_901del22 NP_001395425.1:p.Thr294Glufs frameshift NM_001408497.1:c.880_901del22 NP_001395426.1:p.Thr294Glufs frameshift NM_001408498.1:c.880_901del22 NP_001395427.1:p.Thr294Glufs frameshift NM_001408499.1:c.880_901del22 NP_001395428.1:p.Thr294Glufs frameshift NM_001408500.1:c.880_901del22 NP_001395429.1:p.Thr294Glufs frameshift NM_001408501.1:c.880_901del22 NP_001395430.1:p.Thr294Glufs frameshift NM_001408502.1:c.877_898del22 NP_001395431.1:p.Thr293Glufs frameshift NM_001408503.1:c.877_898del22 NP_001395432.1:p.Thr293Glufs frameshift NM_001408504.1:c.877_898del22 NP_001395433.1:p.Thr293Glufs frameshift NM_001408505.1:c.874_895del22 NP_001395434.1:p.Thr292Glufs frameshift NM_001408506.1:c.817_838del22 NP_001395435.1:p.Thr273Glufs frameshift NM_001408507.1:c.814_835del22 NP_001395436.1:p.Thr272Glufs frameshift NM_001408508.1:c.805_826del22 NP_001395437.1:p.Thr269Glufs frameshift NM_001408509.1:c.802_823del22 NP_001395438.1:p.Thr268Glufs frameshift NM_001408510.1:c.763_784del22 NP_001395439.1:p.Thr255Glufs frameshift NM_001408511.1:c.760_781del22 NP_001395440.1:p.Thr254Glufs frameshift NM_001408512.1:c.640_661del22 NP_001395441.1:p.Thr214Glufs frameshift NM_007294.3:c.4453_4474del22 NP_009225.1:p.Thr1485Glufs frameshift NM_007297.4:c.4312_4333del NP_009228.2:p.Thr1438fs frameshift NM_007298.4:c.1141_1162del22 NP_009229.2:p.Thr381Glufs frameshift NM_007299.4:c.1141_1162del NP_009230.2:p.Thr381fs frameshift NM_007300.4:c.4516_4537del NP_009231.2:p.Thr1506fs frameshift NM_007304.2:c.1141_1162del22 NP_009235.2:p.Thr381Glufs frameshift NR_027676.2:n.4630_4651del non-coding transcript variant NC_000017.11:g.43076498_43076519del NC_000017.10:g.41228515_41228536del NG_005905.2:g.141465_141486del LRG_292:g.141465_141486del LRG_292t1:c.4453_4474del LRG_292p1:p.Thr1485fs - Protein change
- T1438fs, T1485fs, T1506fs, T381fs
- Other names
-
4572del22
- Canonical SPDI
- NC_000017.11:43076497:CTGGTTCTTTATTTTTACTGGT:
-
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 |
13040 | 14846 | |
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 (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257873.6 | |
| Pathogenic (1) |
no assertion criteria provided
|
Jan 31, 2014 | RCV000496421.2 |
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
(Oct 18, 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: SCV000323769.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325968.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587398.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
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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:
Variant allele predicted to encode a truncated non-functional protein.
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 rs886040232 ...
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.