Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5083_5084insG (p.Phe1695fs)
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
-
NM_007294.4(BRCA1):c.5083_5084insG (p.Phe1695fs)
Variation ID: 266523 Accession: VCV000266523.7
- Type and length
-
Insertion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43063942-43063943 (GRCh38) [ NCBI UCSC ] 17: 41215959-41215960 (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.5083_5084insG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Phe1695fs frameshift NM_001407571.1:c.4870_4871insG NP_001394500.1:p.Phe1624Cysfs frameshift NM_001407581.1:c.5149_5150insG NP_001394510.1:p.Phe1717Cysfs frameshift NM_001407582.1:c.5149_5150insG NP_001394511.1:p.Phe1717Cysfs frameshift NM_001407583.1:c.5146_5147insG NP_001394512.1:p.Phe1716Cysfs frameshift NM_001407585.1:c.5146_5147insG NP_001394514.1:p.Phe1716Cysfs frameshift NM_001407587.1:c.5146_5147insG NP_001394516.1:p.Phe1716Cysfs frameshift NM_001407590.1:c.5143_5144insG NP_001394519.1:p.Phe1715Cysfs frameshift NM_001407591.1:c.5143_5144insG NP_001394520.1:p.Phe1715Cysfs frameshift NM_001407593.1:c.5083_5084insG NP_001394522.1:p.Phe1695Cysfs frameshift NM_001407594.1:c.5083_5084insG NP_001394523.1:p.Phe1695Cysfs frameshift NM_001407596.1:c.5083_5084insG NP_001394525.1:p.Phe1695Cysfs frameshift NM_001407597.1:c.5083_5084insG NP_001394526.1:p.Phe1695Cysfs frameshift NM_001407598.1:c.5083_5084insG NP_001394527.1:p.Phe1695Cysfs frameshift NM_001407602.1:c.5083_5084insG NP_001394531.1:p.Phe1695Cysfs frameshift NM_001407603.1:c.5083_5084insG NP_001394532.1:p.Phe1695Cysfs frameshift NM_001407605.1:c.5083_5084insG NP_001394534.1:p.Phe1695Cysfs frameshift NM_001407610.1:c.5080_5081insG NP_001394539.1:p.Phe1694Cysfs frameshift NM_001407611.1:c.5080_5081insG NP_001394540.1:p.Phe1694Cysfs frameshift NM_001407612.1:c.5080_5081insG NP_001394541.1:p.Phe1694Cysfs frameshift NM_001407613.1:c.5080_5081insG NP_001394542.1:p.Phe1694Cysfs frameshift NM_001407614.1:c.5080_5081insG NP_001394543.1:p.Phe1694Cysfs frameshift NM_001407615.1:c.5080_5081insG NP_001394544.1:p.Phe1694Cysfs frameshift NM_001407616.1:c.5080_5081insG NP_001394545.1:p.Phe1694Cysfs frameshift NM_001407617.1:c.5080_5081insG NP_001394546.1:p.Phe1694Cysfs frameshift NM_001407618.1:c.5080_5081insG NP_001394547.1:p.Phe1694Cysfs frameshift NM_001407619.1:c.5080_5081insG NP_001394548.1:p.Phe1694Cysfs frameshift NM_001407620.1:c.5080_5081insG NP_001394549.1:p.Phe1694Cysfs frameshift NM_001407621.1:c.5080_5081insG NP_001394550.1:p.Phe1694Cysfs frameshift NM_001407622.1:c.5080_5081insG NP_001394551.1:p.Phe1694Cysfs frameshift NM_001407623.1:c.5080_5081insG NP_001394552.1:p.Phe1694Cysfs frameshift NM_001407624.1:c.5080_5081insG NP_001394553.1:p.Phe1694Cysfs frameshift NM_001407625.1:c.5080_5081insG NP_001394554.1:p.Phe1694Cysfs frameshift NM_001407626.1:c.5080_5081insG NP_001394555.1:p.Phe1694Cysfs frameshift NM_001407627.1:c.5077_5078insG NP_001394556.1:p.Phe1693Cysfs frameshift NM_001407628.1:c.5077_5078insG NP_001394557.1:p.Phe1693Cysfs frameshift NM_001407629.1:c.5077_5078insG NP_001394558.1:p.Phe1693Cysfs frameshift NM_001407630.1:c.5077_5078insG NP_001394559.1:p.Phe1693Cysfs frameshift NM_001407631.1:c.5077_5078insG NP_001394560.1:p.Phe1693Cysfs frameshift NM_001407632.1:c.5077_5078insG NP_001394561.1:p.Phe1693Cysfs frameshift NM_001407633.1:c.5077_5078insG NP_001394562.1:p.Phe1693Cysfs frameshift NM_001407634.1:c.5077_5078insG NP_001394563.1:p.Phe1693Cysfs frameshift NM_001407635.1:c.5077_5078insG NP_001394564.1:p.Phe1693Cysfs frameshift NM_001407636.1:c.5077_5078insG NP_001394565.1:p.Phe1693Cysfs frameshift NM_001407637.1:c.5077_5078insG NP_001394566.1:p.Phe1693Cysfs frameshift NM_001407638.1:c.5077_5078insG NP_001394567.1:p.Phe1693Cysfs frameshift NM_001407639.1:c.5077_5078insG NP_001394568.1:p.Phe1693Cysfs frameshift NM_001407640.1:c.5077_5078insG NP_001394569.1:p.Phe1693Cysfs frameshift NM_001407641.1:c.5077_5078insG NP_001394570.1:p.Phe1693Cysfs frameshift NM_001407642.1:c.5077_5078insG NP_001394571.1:p.Phe1693Cysfs frameshift NM_001407644.1:c.5074_5075insG NP_001394573.1:p.Phe1692Cysfs frameshift NM_001407645.1:c.5074_5075insG NP_001394574.1:p.Phe1692Cysfs frameshift NM_001407646.1:c.5071_5072insG NP_001394575.1:p.Phe1691Cysfs frameshift NM_001407647.1:c.5068_5069insG NP_001394576.1:p.Phe1690Cysfs frameshift NM_001407648.1:c.5026_5027insG NP_001394577.1:p.Phe1676Cysfs frameshift NM_001407649.1:c.5023_5024insG NP_001394578.1:p.Phe1675Cysfs frameshift NM_001407653.1:c.5005_5006insG NP_001394582.1:p.Phe1669Cysfs frameshift NM_001407654.1:c.5005_5006insG NP_001394583.1:p.Phe1669Cysfs frameshift NM_001407655.1:c.5005_5006insG NP_001394584.1:p.Phe1669Cysfs frameshift NM_001407656.1:c.5002_5003insG NP_001394585.1:p.Phe1668Cysfs frameshift NM_001407657.1:c.5002_5003insG NP_001394586.1:p.Phe1668Cysfs frameshift NM_001407658.1:c.5002_5003insG NP_001394587.1:p.Phe1668Cysfs frameshift NM_001407659.1:c.4999_5000insG NP_001394588.1:p.Phe1667Cysfs frameshift NM_001407660.1:c.4999_5000insG NP_001394589.1:p.Phe1667Cysfs frameshift NM_001407661.1:c.4999_5000insG NP_001394590.1:p.Phe1667Cysfs frameshift NM_001407662.1:c.4999_5000insG NP_001394591.1:p.Phe1667Cysfs frameshift NM_001407663.1:c.4999_5000insG NP_001394592.1:p.Phe1667Cysfs frameshift NM_001407664.1:c.4960_4961insG NP_001394593.1:p.Phe1654Cysfs frameshift NM_001407665.1:c.4960_4961insG NP_001394594.1:p.Phe1654Cysfs frameshift NM_001407666.1:c.4960_4961insG NP_001394595.1:p.Phe1654Cysfs frameshift NM_001407667.1:c.4960_4961insG NP_001394596.1:p.Phe1654Cysfs frameshift NM_001407668.1:c.4960_4961insG NP_001394597.1:p.Phe1654Cysfs frameshift NM_001407669.1:c.4960_4961insG NP_001394598.1:p.Phe1654Cysfs frameshift NM_001407670.1:c.4957_4958insG NP_001394599.1:p.Phe1653Cysfs frameshift NM_001407671.1:c.4957_4958insG NP_001394600.1:p.Phe1653Cysfs frameshift NM_001407672.1:c.4957_4958insG NP_001394601.1:p.Phe1653Cysfs frameshift NM_001407673.1:c.4957_4958insG NP_001394602.1:p.Phe1653Cysfs frameshift NM_001407674.1:c.4957_4958insG NP_001394603.1:p.Phe1653Cysfs frameshift NM_001407675.1:c.4957_4958insG NP_001394604.1:p.Phe1653Cysfs frameshift NM_001407676.1:c.4957_4958insG NP_001394605.1:p.Phe1653Cysfs frameshift NM_001407677.1:c.4957_4958insG NP_001394606.1:p.Phe1653Cysfs frameshift NM_001407678.1:c.4957_4958insG NP_001394607.1:p.Phe1653Cysfs frameshift NM_001407679.1:c.4957_4958insG NP_001394608.1:p.Phe1653Cysfs frameshift NM_001407680.1:c.4957_4958insG NP_001394609.1:p.Phe1653Cysfs frameshift NM_001407681.1:c.4954_4955insG NP_001394610.1:p.Phe1652Cysfs frameshift NM_001407682.1:c.4954_4955insG NP_001394611.1:p.Phe1652Cysfs frameshift NM_001407683.1:c.4954_4955insG NP_001394612.1:p.Phe1652Cysfs frameshift NM_001407684.1:c.5083_5084insG NP_001394613.1:p.Phe1695Cysfs frameshift NM_001407685.1:c.4954_4955insG NP_001394614.1:p.Phe1652Cysfs frameshift NM_001407686.1:c.4954_4955insG NP_001394615.1:p.Phe1652Cysfs frameshift NM_001407687.1:c.4954_4955insG NP_001394616.1:p.Phe1652Cysfs frameshift NM_001407688.1:c.4954_4955insG NP_001394617.1:p.Phe1652Cysfs frameshift NM_001407689.1:c.4954_4955insG NP_001394618.1:p.Phe1652Cysfs frameshift NM_001407690.1:c.4951_4952insG NP_001394619.1:p.Phe1651Cysfs frameshift NM_001407691.1:c.4951_4952insG NP_001394620.1:p.Phe1651Cysfs frameshift NM_001407692.1:c.4942_4943insG NP_001394621.1:p.Phe1648Cysfs frameshift NM_001407694.1:c.4942_4943insG NP_001394623.1:p.Phe1648Cysfs frameshift NM_001407695.1:c.4942_4943insG NP_001394624.1:p.Phe1648Cysfs frameshift NM_001407696.1:c.4942_4943insG NP_001394625.1:p.Phe1648Cysfs frameshift NM_001407697.1:c.4942_4943insG NP_001394626.1:p.Phe1648Cysfs frameshift NM_001407698.1:c.4942_4943insG NP_001394627.1:p.Phe1648Cysfs frameshift NM_001407724.1:c.4942_4943insG NP_001394653.1:p.Phe1648Cysfs frameshift NM_001407725.1:c.4942_4943insG NP_001394654.1:p.Phe1648Cysfs frameshift NM_001407726.1:c.4942_4943insG NP_001394655.1:p.Phe1648Cysfs frameshift NM_001407727.1:c.4942_4943insG NP_001394656.1:p.Phe1648Cysfs frameshift NM_001407728.1:c.4942_4943insG NP_001394657.1:p.Phe1648Cysfs frameshift NM_001407729.1:c.4942_4943insG NP_001394658.1:p.Phe1648Cysfs frameshift NM_001407730.1:c.4942_4943insG NP_001394659.1:p.Phe1648Cysfs frameshift NM_001407731.1:c.4942_4943insG NP_001394660.1:p.Phe1648Cysfs frameshift NM_001407732.1:c.4939_4940insG NP_001394661.1:p.Phe1647Cysfs frameshift NM_001407733.1:c.4939_4940insG NP_001394662.1:p.Phe1647Cysfs frameshift NM_001407734.1:c.4939_4940insG NP_001394663.1:p.Phe1647Cysfs frameshift NM_001407735.1:c.4939_4940insG NP_001394664.1:p.Phe1647Cysfs frameshift NM_001407736.1:c.4939_4940insG NP_001394665.1:p.Phe1647Cysfs frameshift NM_001407737.1:c.4939_4940insG NP_001394666.1:p.Phe1647Cysfs frameshift NM_001407738.1:c.4939_4940insG NP_001394667.1:p.Phe1647Cysfs frameshift NM_001407739.1:c.4939_4940insG NP_001394668.1:p.Phe1647Cysfs frameshift NM_001407740.1:c.4939_4940insG NP_001394669.1:p.Phe1647Cysfs frameshift NM_001407741.1:c.4939_4940insG NP_001394670.1:p.Phe1647Cysfs frameshift NM_001407742.1:c.4939_4940insG NP_001394671.1:p.Phe1647Cysfs frameshift NM_001407743.1:c.4939_4940insG NP_001394672.1:p.Phe1647Cysfs frameshift NM_001407744.1:c.4939_4940insG NP_001394673.1:p.Phe1647Cysfs frameshift NM_001407745.1:c.4939_4940insG NP_001394674.1:p.Phe1647Cysfs frameshift NM_001407746.1:c.4939_4940insG NP_001394675.1:p.Phe1647Cysfs frameshift NM_001407747.1:c.4939_4940insG NP_001394676.1:p.Phe1647Cysfs frameshift NM_001407748.1:c.4939_4940insG NP_001394677.1:p.Phe1647Cysfs frameshift NM_001407749.1:c.4939_4940insG NP_001394678.1:p.Phe1647Cysfs frameshift NM_001407750.1:c.4939_4940insG NP_001394679.1:p.Phe1647Cysfs frameshift NM_001407751.1:c.4939_4940insG NP_001394680.1:p.Phe1647Cysfs frameshift NM_001407752.1:c.4939_4940insG NP_001394681.1:p.Phe1647Cysfs frameshift NM_001407838.1:c.4936_4937insG NP_001394767.1:p.Phe1646Cysfs frameshift NM_001407839.1:c.4936_4937insG NP_001394768.1:p.Phe1646Cysfs frameshift NM_001407841.1:c.4936_4937insG NP_001394770.1:p.Phe1646Cysfs frameshift NM_001407842.1:c.4936_4937insG NP_001394771.1:p.Phe1646Cysfs frameshift NM_001407843.1:c.4936_4937insG NP_001394772.1:p.Phe1646Cysfs frameshift NM_001407844.1:c.4936_4937insG NP_001394773.1:p.Phe1646Cysfs frameshift NM_001407845.1:c.4936_4937insG NP_001394774.1:p.Phe1646Cysfs frameshift NM_001407846.1:c.4936_4937insG NP_001394775.1:p.Phe1646Cysfs frameshift NM_001407847.1:c.4936_4937insG NP_001394776.1:p.Phe1646Cysfs frameshift NM_001407848.1:c.4936_4937insG NP_001394777.1:p.Phe1646Cysfs frameshift NM_001407849.1:c.4936_4937insG NP_001394778.1:p.Phe1646Cysfs frameshift NM_001407850.1:c.4936_4937insG NP_001394779.1:p.Phe1646Cysfs frameshift NM_001407851.1:c.4936_4937insG NP_001394780.1:p.Phe1646Cysfs frameshift NM_001407852.1:c.4936_4937insG NP_001394781.1:p.Phe1646Cysfs frameshift NM_001407853.1:c.4936_4937insG NP_001394782.1:p.Phe1646Cysfs frameshift NM_001407854.1:c.5083_5084insG NP_001394783.1:p.Phe1695Cysfs frameshift NM_001407858.1:c.5080_5081insG NP_001394787.1:p.Phe1694Cysfs frameshift NM_001407859.1:c.5080_5081insG NP_001394788.1:p.Phe1694Cysfs frameshift NM_001407860.1:c.5080_5081insG NP_001394789.1:p.Phe1694Cysfs frameshift NM_001407861.1:c.5077_5078insG NP_001394790.1:p.Phe1693Cysfs frameshift NM_001407862.1:c.4882_4883insG NP_001394791.1:p.Phe1628Cysfs frameshift NM_001407874.1:c.4876_4877insG NP_001394803.1:p.Phe1626Cysfs frameshift NM_001407875.1:c.4876_4877insG NP_001394804.1:p.Phe1626Cysfs frameshift NM_001407879.1:c.4873_4874insG NP_001394808.1:p.Phe1625Cysfs frameshift NM_001407881.1:c.4873_4874insG NP_001394810.1:p.Phe1625Cysfs frameshift NM_001407882.1:c.4873_4874insG NP_001394811.1:p.Phe1625Cysfs frameshift NM_001407884.1:c.4873_4874insG NP_001394813.1:p.Phe1625Cysfs frameshift NM_001407885.1:c.4873_4874insG NP_001394814.1:p.Phe1625Cysfs frameshift NM_001407886.1:c.4873_4874insG NP_001394815.1:p.Phe1625Cysfs frameshift NM_001407887.1:c.4873_4874insG NP_001394816.1:p.Phe1625Cysfs frameshift NM_001407889.1:c.4873_4874insG NP_001394818.1:p.Phe1625Cysfs frameshift NM_001407894.1:c.4870_4871insG NP_001394823.1:p.Phe1624Cysfs frameshift NM_001407895.1:c.4870_4871insG NP_001394824.1:p.Phe1624Cysfs frameshift NM_001407896.1:c.4870_4871insG NP_001394825.1:p.Phe1624Cysfs frameshift NM_001407897.1:c.4870_4871insG NP_001394826.1:p.Phe1624Cysfs frameshift NM_001407898.1:c.4870_4871insG NP_001394827.1:p.Phe1624Cysfs frameshift NM_001407899.1:c.4870_4871insG NP_001394828.1:p.Phe1624Cysfs frameshift NM_001407900.1:c.4870_4871insG NP_001394829.1:p.Phe1624Cysfs frameshift NM_001407902.1:c.4870_4871insG NP_001394831.1:p.Phe1624Cysfs frameshift NM_001407904.1:c.4870_4871insG NP_001394833.1:p.Phe1624Cysfs frameshift NM_001407906.1:c.4870_4871insG NP_001394835.1:p.Phe1624Cysfs frameshift NM_001407907.1:c.4870_4871insG NP_001394836.1:p.Phe1624Cysfs frameshift NM_001407908.1:c.4870_4871insG NP_001394837.1:p.Phe1624Cysfs frameshift NM_001407909.1:c.4870_4871insG NP_001394838.1:p.Phe1624Cysfs frameshift NM_001407910.1:c.4870_4871insG NP_001394839.1:p.Phe1624Cysfs frameshift NM_001407915.1:c.4867_4868insG NP_001394844.1:p.Phe1623Cysfs frameshift NM_001407916.1:c.4867_4868insG NP_001394845.1:p.Phe1623Cysfs frameshift NM_001407917.1:c.4867_4868insG NP_001394846.1:p.Phe1623Cysfs frameshift NM_001407918.1:c.4867_4868insG NP_001394847.1:p.Phe1623Cysfs frameshift NM_001407919.1:c.4960_4961insG NP_001394848.1:p.Phe1654Cysfs frameshift NM_001407920.1:c.4819_4820insG NP_001394849.1:p.Phe1607Cysfs frameshift NM_001407921.1:c.4819_4820insG NP_001394850.1:p.Phe1607Cysfs frameshift NM_001407922.1:c.4819_4820insG NP_001394851.1:p.Phe1607Cysfs frameshift NM_001407923.1:c.4819_4820insG NP_001394852.1:p.Phe1607Cysfs frameshift NM_001407924.1:c.4819_4820insG NP_001394853.1:p.Phe1607Cysfs frameshift NM_001407925.1:c.4819_4820insG NP_001394854.1:p.Phe1607Cysfs frameshift NM_001407926.1:c.4819_4820insG NP_001394855.1:p.Phe1607Cysfs frameshift NM_001407927.1:c.4816_4817insG NP_001394856.1:p.Phe1606Cysfs frameshift NM_001407928.1:c.4816_4817insG NP_001394857.1:p.Phe1606Cysfs frameshift NM_001407929.1:c.4816_4817insG NP_001394858.1:p.Phe1606Cysfs frameshift NM_001407930.1:c.4816_4817insG NP_001394859.1:p.Phe1606Cysfs frameshift NM_001407931.1:c.4816_4817insG NP_001394860.1:p.Phe1606Cysfs frameshift NM_001407932.1:c.4816_4817insG NP_001394861.1:p.Phe1606Cysfs frameshift NM_001407933.1:c.4816_4817insG NP_001394862.1:p.Phe1606Cysfs frameshift NM_001407934.1:c.4813_4814insG NP_001394863.1:p.Phe1605Cysfs frameshift NM_001407935.1:c.4813_4814insG NP_001394864.1:p.Phe1605Cysfs frameshift NM_001407936.1:c.4813_4814insG NP_001394865.1:p.Phe1605Cysfs frameshift NM_001407937.1:c.4960_4961insG NP_001394866.1:p.Phe1654Cysfs frameshift NM_001407938.1:c.4960_4961insG NP_001394867.1:p.Phe1654Cysfs frameshift NM_001407939.1:c.4957_4958insG NP_001394868.1:p.Phe1653Cysfs frameshift NM_001407940.1:c.4957_4958insG NP_001394869.1:p.Phe1653Cysfs frameshift NM_001407941.1:c.4954_4955insG NP_001394870.1:p.Phe1652Cysfs frameshift NM_001407942.1:c.4942_4943insG NP_001394871.1:p.Phe1648Cysfs frameshift NM_001407943.1:c.4939_4940insG NP_001394872.1:p.Phe1647Cysfs frameshift NM_001407944.1:c.4939_4940insG NP_001394873.1:p.Phe1647Cysfs frameshift NM_001407945.1:c.4939_4940insG NP_001394874.1:p.Phe1647Cysfs frameshift NM_001407946.1:c.4750_4751insG NP_001394875.1:p.Phe1584Cysfs frameshift NM_001407947.1:c.4750_4751insG NP_001394876.1:p.Phe1584Cysfs frameshift NM_001407948.1:c.4750_4751insG NP_001394877.1:p.Phe1584Cysfs frameshift NM_001407949.1:c.4750_4751insG NP_001394878.1:p.Phe1584Cysfs frameshift NM_001407950.1:c.4747_4748insG NP_001394879.1:p.Phe1583Cysfs frameshift NM_001407951.1:c.4747_4748insG NP_001394880.1:p.Phe1583Cysfs frameshift NM_001407952.1:c.4747_4748insG NP_001394881.1:p.Phe1583Cysfs frameshift NM_001407953.1:c.4747_4748insG NP_001394882.1:p.Phe1583Cysfs frameshift NM_001407954.1:c.4747_4748insG NP_001394883.1:p.Phe1583Cysfs frameshift NM_001407955.1:c.4747_4748insG NP_001394884.1:p.Phe1583Cysfs frameshift NM_001407956.1:c.4744_4745insG NP_001394885.1:p.Phe1582Cysfs frameshift NM_001407957.1:c.4744_4745insG NP_001394886.1:p.Phe1582Cysfs frameshift NM_001407958.1:c.4744_4745insG NP_001394887.1:p.Phe1582Cysfs frameshift NM_001407959.1:c.4702_4703insG NP_001394888.1:p.Phe1568Cysfs frameshift NM_001407960.1:c.4699_4700insG NP_001394889.1:p.Phe1567Cysfs frameshift NM_001407962.1:c.4699_4700insG NP_001394891.1:p.Phe1567Cysfs frameshift NM_001407963.1:c.4696_4697insG NP_001394892.1:p.Phe1566Cysfs frameshift NM_001407964.1:c.4621_4622insG NP_001394893.1:p.Phe1541Cysfs frameshift NM_001407965.1:c.4576_4577insG NP_001394894.1:p.Phe1526Cysfs frameshift NM_001407966.1:c.4195_4196insG NP_001394895.1:p.Phe1399Cysfs frameshift NM_001407967.1:c.4192_4193insG NP_001394896.1:p.Phe1398Cysfs frameshift NM_001407968.1:c.2479_2480insG NP_001394897.1:p.Phe827Cysfs frameshift NM_001407969.1:c.2476_2477insG NP_001394898.1:p.Phe826Cysfs frameshift NM_001407970.1:c.1840_1841insG NP_001394899.1:p.Phe614Cysfs frameshift NM_001407971.1:c.1840_1841insG NP_001394900.1:p.Phe614Cysfs frameshift NM_001407972.1:c.1837_1838insG NP_001394901.1:p.Phe613Cysfs frameshift NM_001407973.1:c.1774_1775insG NP_001394902.1:p.Phe592Cysfs frameshift NM_001407974.1:c.1774_1775insG NP_001394903.1:p.Phe592Cysfs frameshift NM_001407975.1:c.1774_1775insG NP_001394904.1:p.Phe592Cysfs frameshift NM_001407976.1:c.1774_1775insG NP_001394905.1:p.Phe592Cysfs frameshift NM_001407977.1:c.1774_1775insG NP_001394906.1:p.Phe592Cysfs frameshift NM_001407978.1:c.1774_1775insG NP_001394907.1:p.Phe592Cysfs frameshift NM_001407979.1:c.1771_1772insG NP_001394908.1:p.Phe591Cysfs frameshift NM_001407980.1:c.1771_1772insG NP_001394909.1:p.Phe591Cysfs frameshift NM_001407981.1:c.1771_1772insG NP_001394910.1:p.Phe591Cysfs frameshift NM_001407982.1:c.1771_1772insG NP_001394911.1:p.Phe591Cysfs frameshift NM_001407983.1:c.1771_1772insG NP_001394912.1:p.Phe591Cysfs frameshift NM_001407984.1:c.1771_1772insG NP_001394913.1:p.Phe591Cysfs frameshift NM_001407985.1:c.1771_1772insG NP_001394914.1:p.Phe591Cysfs frameshift NM_001407986.1:c.1771_1772insG NP_001394915.1:p.Phe591Cysfs frameshift NM_001407990.1:c.1771_1772insG NP_001394919.1:p.Phe591Cysfs frameshift NM_001407991.1:c.1771_1772insG NP_001394920.1:p.Phe591Cysfs frameshift NM_001407992.1:c.1771_1772insG NP_001394921.1:p.Phe591Cysfs frameshift NM_001407993.1:c.1771_1772insG NP_001394922.1:p.Phe591Cysfs frameshift NM_001408392.1:c.1768_1769insG NP_001395321.1:p.Phe590Cysfs frameshift NM_001408396.1:c.1768_1769insG NP_001395325.1:p.Phe590Cysfs frameshift NM_001408397.1:c.1768_1769insG NP_001395326.1:p.Phe590Cysfs frameshift NM_001408398.1:c.1768_1769insG NP_001395327.1:p.Phe590Cysfs frameshift NM_001408399.1:c.1768_1769insG NP_001395328.1:p.Phe590Cysfs frameshift NM_001408400.1:c.1768_1769insG NP_001395329.1:p.Phe590Cysfs frameshift NM_001408401.1:c.1768_1769insG NP_001395330.1:p.Phe590Cysfs frameshift NM_001408402.1:c.1768_1769insG NP_001395331.1:p.Phe590Cysfs frameshift NM_001408403.1:c.1768_1769insG NP_001395332.1:p.Phe590Cysfs frameshift NM_001408404.1:c.1768_1769insG NP_001395333.1:p.Phe590Cysfs frameshift NM_001408406.1:c.1765_1766insG NP_001395335.1:p.Phe589Cysfs frameshift NM_001408407.1:c.1765_1766insG NP_001395336.1:p.Phe589Cysfs frameshift NM_001408408.1:c.1765_1766insG NP_001395337.1:p.Phe589Cysfs frameshift NM_001408409.1:c.1762_1763insG NP_001395338.1:p.Phe588Cysfs frameshift NM_001408410.1:c.1699_1700insG NP_001395339.1:p.Phe567Cysfs frameshift NM_001408411.1:c.1696_1697insG NP_001395340.1:p.Phe566Cysfs frameshift NM_001408412.1:c.1693_1694insG NP_001395341.1:p.Phe565Cysfs frameshift NM_001408413.1:c.1693_1694insG NP_001395342.1:p.Phe565Cysfs frameshift NM_001408414.1:c.1693_1694insG NP_001395343.1:p.Phe565Cysfs frameshift NM_001408415.1:c.1693_1694insG NP_001395344.1:p.Phe565Cysfs frameshift NM_001408416.1:c.1693_1694insG NP_001395345.1:p.Phe565Cysfs frameshift NM_001408418.1:c.1657_1658insG NP_001395347.1:p.Phe553Cysfs frameshift NM_001408419.1:c.1657_1658insG NP_001395348.1:p.Phe553Cysfs frameshift NM_001408420.1:c.1657_1658insG NP_001395349.1:p.Phe553Cysfs frameshift NM_001408421.1:c.1654_1655insG NP_001395350.1:p.Phe552Cysfs frameshift NM_001408422.1:c.1654_1655insG NP_001395351.1:p.Phe552Cysfs frameshift NM_001408423.1:c.1654_1655insG NP_001395352.1:p.Phe552Cysfs frameshift NM_001408424.1:c.1654_1655insG NP_001395353.1:p.Phe552Cysfs frameshift NM_001408425.1:c.1651_1652insG NP_001395354.1:p.Phe551Cysfs frameshift NM_001408426.1:c.1651_1652insG NP_001395355.1:p.Phe551Cysfs frameshift NM_001408427.1:c.1651_1652insG NP_001395356.1:p.Phe551Cysfs frameshift NM_001408428.1:c.1651_1652insG NP_001395357.1:p.Phe551Cysfs frameshift NM_001408429.1:c.1651_1652insG NP_001395358.1:p.Phe551Cysfs frameshift NM_001408430.1:c.1651_1652insG NP_001395359.1:p.Phe551Cysfs frameshift NM_001408431.1:c.1651_1652insG NP_001395360.1:p.Phe551Cysfs frameshift NM_001408432.1:c.1648_1649insG NP_001395361.1:p.Phe550Cysfs frameshift NM_001408433.1:c.1648_1649insG NP_001395362.1:p.Phe550Cysfs frameshift NM_001408434.1:c.1648_1649insG NP_001395363.1:p.Phe550Cysfs frameshift NM_001408435.1:c.1648_1649insG NP_001395364.1:p.Phe550Cysfs frameshift NM_001408436.1:c.1648_1649insG NP_001395365.1:p.Phe550Cysfs frameshift NM_001408437.1:c.1648_1649insG NP_001395366.1:p.Phe550Cysfs frameshift NM_001408438.1:c.1648_1649insG NP_001395367.1:p.Phe550Cysfs frameshift NM_001408439.1:c.1648_1649insG NP_001395368.1:p.Phe550Cysfs frameshift NM_001408440.1:c.1648_1649insG NP_001395369.1:p.Phe550Cysfs frameshift NM_001408441.1:c.1648_1649insG NP_001395370.1:p.Phe550Cysfs frameshift NM_001408442.1:c.1648_1649insG NP_001395371.1:p.Phe550Cysfs frameshift NM_001408443.1:c.1648_1649insG NP_001395372.1:p.Phe550Cysfs frameshift NM_001408444.1:c.1648_1649insG NP_001395373.1:p.Phe550Cysfs frameshift NM_001408445.1:c.1645_1646insG NP_001395374.1:p.Phe549Cysfs frameshift NM_001408446.1:c.1645_1646insG NP_001395375.1:p.Phe549Cysfs frameshift NM_001408447.1:c.1645_1646insG NP_001395376.1:p.Phe549Cysfs frameshift NM_001408448.1:c.1645_1646insG NP_001395377.1:p.Phe549Cysfs frameshift NM_001408450.1:c.1645_1646insG NP_001395379.1:p.Phe549Cysfs frameshift NM_001408451.1:c.1639_1640insG NP_001395380.1:p.Phe547Cysfs frameshift NM_001408452.1:c.1633_1634insG NP_001395381.1:p.Phe545Cysfs frameshift NM_001408453.1:c.1633_1634insG NP_001395382.1:p.Phe545Cysfs frameshift NM_001408454.1:c.1633_1634insG NP_001395383.1:p.Phe545Cysfs frameshift NM_001408455.1:c.1633_1634insG NP_001395384.1:p.Phe545Cysfs frameshift NM_001408456.1:c.1633_1634insG NP_001395385.1:p.Phe545Cysfs frameshift NM_001408457.1:c.1633_1634insG NP_001395386.1:p.Phe545Cysfs frameshift NM_001408458.1:c.1630_1631insG NP_001395387.1:p.Phe544Cysfs frameshift NM_001408459.1:c.1630_1631insG NP_001395388.1:p.Phe544Cysfs frameshift NM_001408460.1:c.1630_1631insG NP_001395389.1:p.Phe544Cysfs frameshift NM_001408461.1:c.1630_1631insG NP_001395390.1:p.Phe544Cysfs frameshift NM_001408462.1:c.1630_1631insG NP_001395391.1:p.Phe544Cysfs frameshift NM_001408463.1:c.1630_1631insG NP_001395392.1:p.Phe544Cysfs frameshift NM_001408464.1:c.1630_1631insG NP_001395393.1:p.Phe544Cysfs frameshift NM_001408465.1:c.1630_1631insG NP_001395394.1:p.Phe544Cysfs frameshift NM_001408466.1:c.1630_1631insG NP_001395395.1:p.Phe544Cysfs frameshift NM_001408467.1:c.1630_1631insG NP_001395396.1:p.Phe544Cysfs frameshift NM_001408468.1:c.1627_1628insG NP_001395397.1:p.Phe543Cysfs frameshift NM_001408469.1:c.1627_1628insG NP_001395398.1:p.Phe543Cysfs frameshift NM_001408470.1:c.1627_1628insG NP_001395399.1:p.Phe543Cysfs frameshift NM_001408472.1:c.1771_1772insG NP_001395401.1:p.Phe591Cysfs frameshift NM_001408473.1:c.1768_1769insG NP_001395402.1:p.Phe590Cysfs frameshift NM_001408474.1:c.1573_1574insG NP_001395403.1:p.Phe525Cysfs frameshift NM_001408475.1:c.1570_1571insG NP_001395404.1:p.Phe524Cysfs frameshift NM_001408476.1:c.1570_1571insG NP_001395405.1:p.Phe524Cysfs frameshift NM_001408478.1:c.1564_1565insG NP_001395407.1:p.Phe522Cysfs frameshift NM_001408479.1:c.1564_1565insG NP_001395408.1:p.Phe522Cysfs frameshift NM_001408480.1:c.1564_1565insG NP_001395409.1:p.Phe522Cysfs frameshift NM_001408481.1:c.1561_1562insG NP_001395410.1:p.Phe521Cysfs frameshift NM_001408482.1:c.1561_1562insG NP_001395411.1:p.Phe521Cysfs frameshift NM_001408483.1:c.1561_1562insG NP_001395412.1:p.Phe521Cysfs frameshift NM_001408484.1:c.1561_1562insG NP_001395413.1:p.Phe521Cysfs frameshift NM_001408485.1:c.1561_1562insG NP_001395414.1:p.Phe521Cysfs frameshift NM_001408489.1:c.1561_1562insG NP_001395418.1:p.Phe521Cysfs frameshift NM_001408490.1:c.1561_1562insG NP_001395419.1:p.Phe521Cysfs frameshift NM_001408491.1:c.1561_1562insG NP_001395420.1:p.Phe521Cysfs frameshift NM_001408492.1:c.1558_1559insG NP_001395421.1:p.Phe520Cysfs frameshift NM_001408493.1:c.1558_1559insG NP_001395422.1:p.Phe520Cysfs frameshift NM_001408494.1:c.1534_1535insG NP_001395423.1:p.Phe512Cysfs frameshift NM_001408495.1:c.1528_1529insG NP_001395424.1:p.Phe510Cysfs frameshift NM_001408496.1:c.1510_1511insG NP_001395425.1:p.Phe504Cysfs frameshift NM_001408497.1:c.1510_1511insG NP_001395426.1:p.Phe504Cysfs frameshift NM_001408498.1:c.1510_1511insG NP_001395427.1:p.Phe504Cysfs frameshift NM_001408499.1:c.1510_1511insG NP_001395428.1:p.Phe504Cysfs frameshift NM_001408500.1:c.1510_1511insG NP_001395429.1:p.Phe504Cysfs frameshift NM_001408501.1:c.1510_1511insG NP_001395430.1:p.Phe504Cysfs frameshift NM_001408502.1:c.1507_1508insG NP_001395431.1:p.Phe503Cysfs frameshift NM_001408503.1:c.1507_1508insG NP_001395432.1:p.Phe503Cysfs frameshift NM_001408504.1:c.1507_1508insG NP_001395433.1:p.Phe503Cysfs frameshift NM_001408505.1:c.1504_1505insG NP_001395434.1:p.Phe502Cysfs frameshift NM_001408506.1:c.1447_1448insG NP_001395435.1:p.Phe483Cysfs frameshift NM_001408507.1:c.1444_1445insG NP_001395436.1:p.Phe482Cysfs frameshift NM_001408508.1:c.1435_1436insG NP_001395437.1:p.Phe479Cysfs frameshift NM_001408509.1:c.1432_1433insG NP_001395438.1:p.Phe478Cysfs frameshift NM_001408510.1:c.1393_1394insG NP_001395439.1:p.Phe465Cysfs frameshift NM_001408511.1:c.1390_1391insG NP_001395440.1:p.Phe464Cysfs frameshift NM_001408512.1:c.1270_1271insG NP_001395441.1:p.Phe424Cysfs frameshift NM_001408513.1:c.1243_1244insG NP_001395442.1:p.Phe415Cysfs frameshift NM_001408514.1:c.847_848insG NP_001395443.1:p.Phe283Cysfs frameshift NM_007297.4:c.4942_4943insG NP_009228.2:p.Phe1648fs frameshift NM_007298.4:c.1771_1772insG NP_009229.2:p.Phe591Cysfs frameshift NM_007299.4:c.1771_1772insG NP_009230.2:p.Phe591fs frameshift NM_007300.4:c.5146_5147insG NP_009231.2:p.Phe1716fs frameshift NM_007304.2:c.1771_1772insG NP_009235.2:p.Phe591Cysfs frameshift NR_027676.2:n.5260_5261insG non-coding transcript variant NC_000017.11:g.43063942_43063943insC NC_000017.10:g.41215959_41215960insC NG_005905.2:g.154041_154042insG LRG_292:g.154041_154042insG LRG_292t1:c.5083_5084insG LRG_292p1:p.Phe1695Cysfs - Protein change
- F1648fs, F1716fs, F591fs, F1695fs
- Other names
-
5202insG
- Canonical SPDI
- NC_000017.11:43063942::C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
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 (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000256865.13 |
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: SCV000323833.2
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
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326152.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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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 rs886040270 ...
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 Nov 10, 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.