ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1669del (p.Thr557fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.1669del (p.Thr557fs)
Variation ID: 266180 Accession: VCV000266180.6
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43093862 (GRCh38) [ NCBI UCSC ] 17: 41245879 (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
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.1669del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr557fs frameshift NM_001407571.1:c.1456del NP_001394500.1:p.Thr486fs frameshift NM_001407581.1:c.1669del NP_001394510.1:p.Thr557fs frameshift NM_001407582.1:c.1669del NP_001394511.1:p.Thr557fs frameshift NM_001407583.1:c.1669del NP_001394512.1:p.Thr557fs frameshift NM_001407585.1:c.1669del NP_001394514.1:p.Thr557fs frameshift NM_001407587.1:c.1666del NP_001394516.1:p.Thr556fs frameshift NM_001407590.1:c.1666del NP_001394519.1:p.Thr556fs frameshift NM_001407591.1:c.1666del NP_001394520.1:p.Thr556fs frameshift NM_001407593.1:c.1669del NP_001394522.1:p.Thr557fs frameshift NM_001407594.1:c.1669del NP_001394523.1:p.Thr557fs frameshift NM_001407596.1:c.1669del NP_001394525.1:p.Thr557fs frameshift NM_001407597.1:c.1669del NP_001394526.1:p.Thr557fs frameshift NM_001407598.1:c.1669del NP_001394527.1:p.Thr557fs frameshift NM_001407602.1:c.1669del NP_001394531.1:p.Thr557fs frameshift NM_001407603.1:c.1669del NP_001394532.1:p.Thr557fs frameshift NM_001407605.1:c.1669del NP_001394534.1:p.Thr557fs frameshift NM_001407610.1:c.1666del NP_001394539.1:p.Thr556fs frameshift NM_001407611.1:c.1666del NP_001394540.1:p.Thr556fs frameshift NM_001407612.1:c.1666del NP_001394541.1:p.Thr556fs frameshift NM_001407613.1:c.1666del NP_001394542.1:p.Thr556fs frameshift NM_001407614.1:c.1666del NP_001394543.1:p.Thr556fs frameshift NM_001407615.1:c.1666del NP_001394544.1:p.Thr556fs frameshift NM_001407616.1:c.1669del NP_001394545.1:p.Thr557fs frameshift NM_001407617.1:c.1669del NP_001394546.1:p.Thr557fs frameshift NM_001407618.1:c.1669del NP_001394547.1:p.Thr557fs frameshift NM_001407619.1:c.1669del NP_001394548.1:p.Thr557fs frameshift NM_001407620.1:c.1669del NP_001394549.1:p.Thr557fs frameshift NM_001407621.1:c.1669del NP_001394550.1:p.Thr557fs frameshift NM_001407622.1:c.1669del NP_001394551.1:p.Thr557fs frameshift NM_001407623.1:c.1669del NP_001394552.1:p.Thr557fs frameshift NM_001407624.1:c.1669del NP_001394553.1:p.Thr557fs frameshift NM_001407625.1:c.1669del NP_001394554.1:p.Thr557fs frameshift NM_001407626.1:c.1669del NP_001394555.1:p.Thr557fs frameshift NM_001407627.1:c.1666del NP_001394556.1:p.Thr556fs frameshift NM_001407628.1:c.1666del NP_001394557.1:p.Thr556fs frameshift NM_001407629.1:c.1666del NP_001394558.1:p.Thr556fs frameshift NM_001407630.1:c.1666del NP_001394559.1:p.Thr556fs frameshift NM_001407631.1:c.1666del NP_001394560.1:p.Thr556fs frameshift NM_001407632.1:c.1666del NP_001394561.1:p.Thr556fs frameshift NM_001407633.1:c.1666del NP_001394562.1:p.Thr556fs frameshift NM_001407634.1:c.1666del NP_001394563.1:p.Thr556fs frameshift NM_001407635.1:c.1666del NP_001394564.1:p.Thr556fs frameshift NM_001407636.1:c.1666del NP_001394565.1:p.Thr556fs frameshift NM_001407637.1:c.1666del NP_001394566.1:p.Thr556fs frameshift NM_001407638.1:c.1666del NP_001394567.1:p.Thr556fs frameshift NM_001407639.1:c.1669del NP_001394568.1:p.Thr557fs frameshift NM_001407640.1:c.1669del NP_001394569.1:p.Thr557fs frameshift NM_001407641.1:c.1669del NP_001394570.1:p.Thr557fs frameshift NM_001407642.1:c.1669del NP_001394571.1:p.Thr557fs frameshift NM_001407644.1:c.1666del NP_001394573.1:p.Thr556fs frameshift NM_001407645.1:c.1666del NP_001394574.1:p.Thr556fs frameshift NM_001407646.1:c.1660del NP_001394575.1:p.Thr554fs frameshift NM_001407647.1:c.1660del NP_001394576.1:p.Thr554fs frameshift NM_001407648.1:c.1546del NP_001394577.1:p.Thr516fs frameshift NM_001407649.1:c.1543del NP_001394578.1:p.Thr515fs frameshift NM_001407652.1:c.1669del NP_001394581.1:p.Thr557fs frameshift NM_001407653.1:c.1591del NP_001394582.1:p.Thr531fs frameshift NM_001407654.1:c.1591del NP_001394583.1:p.Thr531fs frameshift NM_001407655.1:c.1591del NP_001394584.1:p.Thr531fs frameshift NM_001407656.1:c.1591del NP_001394585.1:p.Thr531fs frameshift NM_001407657.1:c.1591del NP_001394586.1:p.Thr531fs frameshift NM_001407658.1:c.1591del NP_001394587.1:p.Thr531fs frameshift NM_001407659.1:c.1588del NP_001394588.1:p.Thr530fs frameshift NM_001407660.1:c.1588del NP_001394589.1:p.Thr530fs frameshift NM_001407661.1:c.1588del NP_001394590.1:p.Thr530fs frameshift NM_001407662.1:c.1588del NP_001394591.1:p.Thr530fs frameshift NM_001407663.1:c.1591del NP_001394592.1:p.Thr531fs frameshift NM_001407664.1:c.1546del NP_001394593.1:p.Thr516fs frameshift NM_001407665.1:c.1546del NP_001394594.1:p.Thr516fs frameshift NM_001407666.1:c.1546del NP_001394595.1:p.Thr516fs frameshift NM_001407667.1:c.1546del NP_001394596.1:p.Thr516fs frameshift NM_001407668.1:c.1546del NP_001394597.1:p.Thr516fs frameshift NM_001407669.1:c.1546del NP_001394598.1:p.Thr516fs frameshift NM_001407670.1:c.1543del NP_001394599.1:p.Thr515fs frameshift NM_001407671.1:c.1543del NP_001394600.1:p.Thr515fs frameshift NM_001407672.1:c.1543del NP_001394601.1:p.Thr515fs frameshift NM_001407673.1:c.1543del NP_001394602.1:p.Thr515fs frameshift NM_001407674.1:c.1546del NP_001394603.1:p.Thr516fs frameshift NM_001407675.1:c.1546del NP_001394604.1:p.Thr516fs frameshift NM_001407676.1:c.1546del NP_001394605.1:p.Thr516fs frameshift NM_001407677.1:c.1546del NP_001394606.1:p.Thr516fs frameshift NM_001407678.1:c.1546del NP_001394607.1:p.Thr516fs frameshift NM_001407679.1:c.1546del NP_001394608.1:p.Thr516fs frameshift NM_001407680.1:c.1546del NP_001394609.1:p.Thr516fs frameshift NM_001407681.1:c.1546del NP_001394610.1:p.Thr516fs frameshift NM_001407682.1:c.1546del NP_001394611.1:p.Thr516fs frameshift NM_001407683.1:c.1546del NP_001394612.1:p.Thr516fs frameshift NM_001407684.1:c.1669del NP_001394613.1:p.Thr557fs frameshift NM_001407685.1:c.1543del NP_001394614.1:p.Thr515fs frameshift NM_001407686.1:c.1543del NP_001394615.1:p.Thr515fs frameshift NM_001407687.1:c.1543del NP_001394616.1:p.Thr515fs frameshift NM_001407688.1:c.1543del NP_001394617.1:p.Thr515fs frameshift NM_001407689.1:c.1543del NP_001394618.1:p.Thr515fs frameshift NM_001407690.1:c.1543del NP_001394619.1:p.Thr515fs frameshift NM_001407691.1:c.1543del NP_001394620.1:p.Thr515fs frameshift NM_001407692.1:c.1528del NP_001394621.1:p.Thr510fs frameshift NM_001407694.1:c.1528del NP_001394623.1:p.Thr510fs frameshift NM_001407695.1:c.1528del NP_001394624.1:p.Thr510fs frameshift NM_001407696.1:c.1528del NP_001394625.1:p.Thr510fs frameshift NM_001407697.1:c.1528del NP_001394626.1:p.Thr510fs frameshift NM_001407698.1:c.1528del NP_001394627.1:p.Thr510fs frameshift NM_001407724.1:c.1528del NP_001394653.1:p.Thr510fs frameshift NM_001407725.1:c.1528del NP_001394654.1:p.Thr510fs frameshift NM_001407726.1:c.1528del NP_001394655.1:p.Thr510fs frameshift NM_001407727.1:c.1528del NP_001394656.1:p.Thr510fs frameshift NM_001407728.1:c.1528del NP_001394657.1:p.Thr510fs frameshift NM_001407729.1:c.1528del NP_001394658.1:p.Thr510fs frameshift NM_001407730.1:c.1528del NP_001394659.1:p.Thr510fs frameshift NM_001407731.1:c.1528del NP_001394660.1:p.Thr510fs frameshift NM_001407732.1:c.1528del NP_001394661.1:p.Thr510fs frameshift NM_001407733.1:c.1528del NP_001394662.1:p.Thr510fs frameshift NM_001407734.1:c.1528del NP_001394663.1:p.Thr510fs frameshift NM_001407735.1:c.1528del NP_001394664.1:p.Thr510fs frameshift NM_001407736.1:c.1528del NP_001394665.1:p.Thr510fs frameshift NM_001407737.1:c.1528del NP_001394666.1:p.Thr510fs frameshift NM_001407738.1:c.1528del NP_001394667.1:p.Thr510fs frameshift NM_001407739.1:c.1528del NP_001394668.1:p.Thr510fs frameshift NM_001407740.1:c.1525del NP_001394669.1:p.Thr509fs frameshift NM_001407741.1:c.1525del NP_001394670.1:p.Thr509fs frameshift NM_001407742.1:c.1525del NP_001394671.1:p.Thr509fs frameshift NM_001407743.1:c.1525del NP_001394672.1:p.Thr509fs frameshift NM_001407744.1:c.1525del NP_001394673.1:p.Thr509fs frameshift NM_001407745.1:c.1525del NP_001394674.1:p.Thr509fs frameshift NM_001407746.1:c.1525del NP_001394675.1:p.Thr509fs frameshift NM_001407747.1:c.1525del NP_001394676.1:p.Thr509fs frameshift NM_001407748.1:c.1525del NP_001394677.1:p.Thr509fs frameshift NM_001407749.1:c.1525del NP_001394678.1:p.Thr509fs frameshift NM_001407750.1:c.1528del NP_001394679.1:p.Thr510fs frameshift NM_001407751.1:c.1528del NP_001394680.1:p.Thr510fs frameshift NM_001407752.1:c.1528del NP_001394681.1:p.Thr510fs frameshift NM_001407838.1:c.1525del NP_001394767.1:p.Thr509fs frameshift NM_001407839.1:c.1525del NP_001394768.1:p.Thr509fs frameshift NM_001407841.1:c.1525del NP_001394770.1:p.Thr509fs frameshift NM_001407842.1:c.1525del NP_001394771.1:p.Thr509fs frameshift NM_001407843.1:c.1525del NP_001394772.1:p.Thr509fs frameshift NM_001407844.1:c.1525del NP_001394773.1:p.Thr509fs frameshift NM_001407845.1:c.1525del NP_001394774.1:p.Thr509fs frameshift NM_001407846.1:c.1525del NP_001394775.1:p.Thr509fs frameshift NM_001407847.1:c.1525del NP_001394776.1:p.Thr509fs frameshift NM_001407848.1:c.1525del NP_001394777.1:p.Thr509fs frameshift NM_001407849.1:c.1525del NP_001394778.1:p.Thr509fs frameshift NM_001407850.1:c.1528del NP_001394779.1:p.Thr510fs frameshift NM_001407851.1:c.1528del NP_001394780.1:p.Thr510fs frameshift NM_001407852.1:c.1528del NP_001394781.1:p.Thr510fs frameshift NM_001407853.1:c.1456del NP_001394782.1:p.Thr486fs frameshift NM_001407854.1:c.1669del NP_001394783.1:p.Thr557fs frameshift NM_001407858.1:c.1669del NP_001394787.1:p.Thr557fs frameshift NM_001407859.1:c.1669del NP_001394788.1:p.Thr557fs frameshift NM_001407860.1:c.1666del NP_001394789.1:p.Thr556fs frameshift NM_001407861.1:c.1666del NP_001394790.1:p.Thr556fs frameshift NM_001407862.1:c.1468del NP_001394791.1:p.Thr490fs frameshift NM_001407863.1:c.1546del NP_001394792.1:p.Thr516fs frameshift NM_001407874.1:c.1465del NP_001394803.1:p.Thr489fs frameshift NM_001407875.1:c.1465del NP_001394804.1:p.Thr489fs frameshift NM_001407879.1:c.1459del NP_001394808.1:p.Thr487fs frameshift NM_001407881.1:c.1459del NP_001394810.1:p.Thr487fs frameshift NM_001407882.1:c.1459del NP_001394811.1:p.Thr487fs frameshift NM_001407884.1:c.1459del NP_001394813.1:p.Thr487fs frameshift NM_001407885.1:c.1459del NP_001394814.1:p.Thr487fs frameshift NM_001407886.1:c.1459del NP_001394815.1:p.Thr487fs frameshift NM_001407887.1:c.1459del NP_001394816.1:p.Thr487fs frameshift NM_001407889.1:c.1459del NP_001394818.1:p.Thr487fs frameshift NM_001407894.1:c.1456del NP_001394823.1:p.Thr486fs frameshift NM_001407895.1:c.1456del NP_001394824.1:p.Thr486fs frameshift NM_001407896.1:c.1456del NP_001394825.1:p.Thr486fs frameshift NM_001407897.1:c.1456del NP_001394826.1:p.Thr486fs frameshift NM_001407898.1:c.1456del NP_001394827.1:p.Thr486fs frameshift NM_001407899.1:c.1456del NP_001394828.1:p.Thr486fs frameshift NM_001407900.1:c.1459del NP_001394829.1:p.Thr487fs frameshift NM_001407902.1:c.1459del NP_001394831.1:p.Thr487fs frameshift NM_001407904.1:c.1459del NP_001394833.1:p.Thr487fs frameshift NM_001407906.1:c.1459del NP_001394835.1:p.Thr487fs frameshift NM_001407907.1:c.1459del NP_001394836.1:p.Thr487fs frameshift NM_001407908.1:c.1459del NP_001394837.1:p.Thr487fs frameshift NM_001407909.1:c.1459del NP_001394838.1:p.Thr487fs frameshift NM_001407910.1:c.1459del NP_001394839.1:p.Thr487fs frameshift NM_001407915.1:c.1456del NP_001394844.1:p.Thr486fs frameshift NM_001407916.1:c.1456del NP_001394845.1:p.Thr486fs frameshift NM_001407917.1:c.1456del NP_001394846.1:p.Thr486fs frameshift NM_001407918.1:c.1456del NP_001394847.1:p.Thr486fs frameshift NM_001407919.1:c.1546del NP_001394848.1:p.Thr516fs frameshift NM_001407920.1:c.1405del NP_001394849.1:p.Thr469fs frameshift NM_001407921.1:c.1405del NP_001394850.1:p.Thr469fs frameshift NM_001407922.1:c.1405del NP_001394851.1:p.Thr469fs frameshift NM_001407923.1:c.1405del NP_001394852.1:p.Thr469fs frameshift NM_001407924.1:c.1405del NP_001394853.1:p.Thr469fs frameshift NM_001407925.1:c.1405del NP_001394854.1:p.Thr469fs frameshift NM_001407926.1:c.1405del NP_001394855.1:p.Thr469fs frameshift NM_001407927.1:c.1405del NP_001394856.1:p.Thr469fs frameshift NM_001407928.1:c.1405del NP_001394857.1:p.Thr469fs frameshift NM_001407929.1:c.1405del NP_001394858.1:p.Thr469fs frameshift NM_001407930.1:c.1402del NP_001394859.1:p.Thr468fs frameshift NM_001407931.1:c.1402del NP_001394860.1:p.Thr468fs frameshift NM_001407932.1:c.1402del NP_001394861.1:p.Thr468fs frameshift NM_001407933.1:c.1405del NP_001394862.1:p.Thr469fs frameshift NM_001407934.1:c.1402del NP_001394863.1:p.Thr468fs frameshift NM_001407935.1:c.1405del NP_001394864.1:p.Thr469fs frameshift NM_001407936.1:c.1402del NP_001394865.1:p.Thr468fs frameshift NM_001407937.1:c.1546del NP_001394866.1:p.Thr516fs frameshift NM_001407938.1:c.1546del NP_001394867.1:p.Thr516fs frameshift NM_001407939.1:c.1546del NP_001394868.1:p.Thr516fs frameshift NM_001407940.1:c.1543del NP_001394869.1:p.Thr515fs frameshift NM_001407941.1:c.1543del NP_001394870.1:p.Thr515fs frameshift NM_001407942.1:c.1528del NP_001394871.1:p.Thr510fs frameshift NM_001407943.1:c.1525del NP_001394872.1:p.Thr509fs frameshift NM_001407944.1:c.1528del NP_001394873.1:p.Thr510fs frameshift NM_001407945.1:c.1528del NP_001394874.1:p.Thr510fs frameshift NM_001407946.1:c.1336del NP_001394875.1:p.Thr446fs frameshift NM_001407947.1:c.1336del NP_001394876.1:p.Thr446fs frameshift NM_001407948.1:c.1336del NP_001394877.1:p.Thr446fs frameshift NM_001407949.1:c.1336del NP_001394878.1:p.Thr446fs frameshift NM_001407950.1:c.1336del NP_001394879.1:p.Thr446fs frameshift NM_001407951.1:c.1336del NP_001394880.1:p.Thr446fs frameshift NM_001407952.1:c.1336del NP_001394881.1:p.Thr446fs frameshift NM_001407953.1:c.1336del NP_001394882.1:p.Thr446fs frameshift NM_001407954.1:c.1333del NP_001394883.1:p.Thr445fs frameshift NM_001407955.1:c.1333del NP_001394884.1:p.Thr445fs frameshift NM_001407956.1:c.1333del NP_001394885.1:p.Thr445fs frameshift NM_001407957.1:c.1336del NP_001394886.1:p.Thr446fs frameshift NM_001407958.1:c.1333del NP_001394887.1:p.Thr445fs frameshift NM_001407959.1:c.1288del NP_001394888.1:p.Thr430fs frameshift NM_001407960.1:c.1288del NP_001394889.1:p.Thr430fs frameshift NM_001407962.1:c.1285del NP_001394891.1:p.Thr429fs frameshift NM_001407963.1:c.1288del NP_001394892.1:p.Thr430fs frameshift NM_001407964.1:c.1525del NP_001394893.1:p.Thr509fs frameshift NM_001407965.1:c.1165del NP_001394894.1:p.Thr389fs frameshift NM_001407966.1:c.781del NP_001394895.1:p.Thr261fs frameshift NM_001407967.1:c.781del NP_001394896.1:p.Thr261fs frameshift NM_001407968.1:c.787+882del intron variant NM_001407969.1:c.787+882del intron variant NM_001407970.1:c.787+882del intron variant NM_001407971.1:c.787+882del intron variant NM_001407972.1:c.784+882del intron variant NM_001407973.1:c.787+882del intron variant NM_001407974.1:c.787+882del intron variant NM_001407975.1:c.787+882del intron variant NM_001407976.1:c.787+882del intron variant NM_001407977.1:c.787+882del intron variant NM_001407978.1:c.787+882del intron variant NM_001407979.1:c.787+882del intron variant NM_001407980.1:c.787+882del intron variant NM_001407981.1:c.787+882del intron variant NM_001407982.1:c.787+882del intron variant NM_001407983.1:c.787+882del intron variant NM_001407984.1:c.784+882del intron variant NM_001407985.1:c.784+882del intron variant NM_001407986.1:c.784+882del intron variant NM_001407990.1:c.787+882del intron variant NM_001407991.1:c.784+882del intron variant NM_001407992.1:c.784+882del intron variant NM_001407993.1:c.787+882del intron variant NM_001408392.1:c.784+882del intron variant NM_001408396.1:c.784+882del intron variant NM_001408397.1:c.784+882del intron variant NM_001408398.1:c.784+882del intron variant NM_001408399.1:c.784+882del intron variant NM_001408400.1:c.784+882del intron variant NM_001408401.1:c.784+882del intron variant NM_001408402.1:c.784+882del intron variant NM_001408403.1:c.787+882del intron variant NM_001408404.1:c.787+882del intron variant NM_001408406.1:c.790+879del intron variant NM_001408407.1:c.784+882del intron variant NM_001408408.1:c.778+882del intron variant NM_001408409.1:c.709+882del intron variant NM_001408410.1:c.646+882del intron variant NM_001408411.1:c.709+882del intron variant NM_001408412.1:c.709+882del intron variant NM_001408413.1:c.706+882del intron variant NM_001408414.1:c.709+882del intron variant NM_001408415.1:c.709+882del intron variant NM_001408416.1:c.706+882del intron variant NM_001408418.1:c.670+1984del intron variant NM_001408419.1:c.670+1984del intron variant NM_001408420.1:c.670+1984del intron variant NM_001408421.1:c.667+1984del intron variant NM_001408422.1:c.670+1984del intron variant NM_001408423.1:c.670+1984del intron variant NM_001408424.1:c.667+1984del intron variant NM_001408425.1:c.664+882del intron variant NM_001408426.1:c.664+882del intron variant NM_001408427.1:c.664+882del intron variant NM_001408428.1:c.664+882del intron variant NM_001408429.1:c.664+882del intron variant NM_001408430.1:c.664+882del intron variant NM_001408431.1:c.667+1984del intron variant NM_001408432.1:c.661+882del intron variant NM_001408433.1:c.661+882del intron variant NM_001408434.1:c.661+882del intron variant NM_001408435.1:c.661+882del intron variant NM_001408436.1:c.664+882del intron variant NM_001408437.1:c.664+882del intron variant NM_001408438.1:c.664+882del intron variant NM_001408439.1:c.664+882del intron variant NM_001408440.1:c.664+882del intron variant NM_001408441.1:c.664+882del intron variant NM_001408442.1:c.664+882del intron variant NM_001408443.1:c.664+882del intron variant NM_001408444.1:c.664+882del intron variant NM_001408445.1:c.661+882del intron variant NM_001408446.1:c.661+882del intron variant NM_001408447.1:c.661+882del intron variant NM_001408448.1:c.661+882del intron variant NM_001408450.1:c.661+882del intron variant NM_001408451.1:c.652+882del intron variant NM_001408452.1:c.646+882del intron variant NM_001408453.1:c.646+882del intron variant NM_001408454.1:c.646+882del intron variant NM_001408455.1:c.646+882del intron variant NM_001408456.1:c.646+882del intron variant NM_001408457.1:c.646+882del intron variant NM_001408458.1:c.646+882del intron variant NM_001408459.1:c.646+882del intron variant NM_001408460.1:c.646+882del intron variant NM_001408461.1:c.646+882del intron variant NM_001408462.1:c.643+882del intron variant NM_001408463.1:c.643+882del intron variant NM_001408464.1:c.643+882del intron variant NM_001408465.1:c.643+882del intron variant NM_001408466.1:c.646+882del intron variant NM_001408467.1:c.646+882del intron variant NM_001408468.1:c.643+882del intron variant NM_001408469.1:c.646+882del intron variant NM_001408470.1:c.643+882del intron variant NM_001408472.1:c.787+882del intron variant NM_001408473.1:c.784+882del intron variant NM_001408474.1:c.586+882del intron variant NM_001408475.1:c.583+882del intron variant NM_001408476.1:c.586+882del intron variant NM_001408478.1:c.577+882del intron variant NM_001408479.1:c.577+882del intron variant NM_001408480.1:c.577+882del intron variant NM_001408481.1:c.577+882del intron variant NM_001408482.1:c.577+882del intron variant NM_001408483.1:c.577+882del intron variant NM_001408484.1:c.577+882del intron variant NM_001408485.1:c.577+882del intron variant NM_001408489.1:c.577+882del intron variant NM_001408490.1:c.574+882del intron variant NM_001408491.1:c.574+882del intron variant NM_001408492.1:c.577+882del intron variant NM_001408493.1:c.574+882del intron variant NM_001408494.1:c.548-2830del intron variant NM_001408495.1:c.545-2830del intron variant NM_001408496.1:c.523+882del intron variant NM_001408497.1:c.523+882del intron variant NM_001408498.1:c.523+882del intron variant NM_001408499.1:c.523+882del intron variant NM_001408500.1:c.523+882del intron variant NM_001408501.1:c.523+882del intron variant NM_001408502.1:c.454+882del intron variant NM_001408503.1:c.520+882del intron variant NM_001408504.1:c.520+882del intron variant NM_001408505.1:c.520+882del intron variant NM_001408506.1:c.460+1984del intron variant NM_001408507.1:c.460+1984del intron variant NM_001408508.1:c.451+882del intron variant NM_001408509.1:c.451+882del intron variant NM_001408510.1:c.406+882del intron variant NM_001408511.1:c.404-2830del intron variant NM_001408512.1:c.283+882del intron variant NM_001408513.1:c.577+882del intron variant NM_001408514.1:c.577+882del intron variant NM_007294.3:c.1666delA NP_009225.1:p.Thr557Glnfs frameshift NM_007297.4:c.1528del NP_009228.2:p.Thr510fs frameshift NM_007298.4:c.787+882del intron variant NM_007299.4:c.787+882del intron variant NM_007300.4:c.1669del NP_009231.2:p.Thr557fs frameshift NR_027676.1:n.1802delA NC_000017.11:g.43093865del NC_000017.10:g.41245882del NG_005905.2:g.124122del LRG_292:g.124122del LRG_292t1:c.1669del LRG_292p1:p.Thr557fs - Protein change
- T510fs, T557fs, T389fs, T490fs, T556fs, T429fs, T446fs, T486fs, T516fs, T530fs, T261fs, T430fs, T445fs, T469fs, T515fs, T468fs, T487fs, T489fs, T509fs, T531fs, T554fs
- Other names
- 1788delA-ter571
- Canonical SPDI
- NC_000017.11:43093861:TTTT:TTT
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (2) |
reviewed by expert panel
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Oct 18, 2016 | RCV000257575.6 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Oct 18, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323342.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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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: SCV000325119.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere 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 rs886039962 ...
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.