The c.5051_5052dupCT pathogenic mutation, located in coding exon 15 of the BRCA1 gene, results from a duplication of CT at nucleotide position 5051, causing a translational frameshift with a predicted alternate stop codon (p.T1685Lfs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5051_5052dup (p.Thr1685fs)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
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Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5051_5052dup (p.Thr1685fs)
Variation ID: 1745035 Accession: VCV001745035.2
- Type and length
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Duplication, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43067629-43067630 (GRCh38) [ NCBI UCSC ] 17: 41219646-41219647 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Nov 29, 2022 May 1, 2024 Dec 18, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5051_5052dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1685fs frameshift NM_001407571.1:c.4838_4839dup NP_001394500.1:p.Thr1614Leufs frameshift NM_001407581.1:c.5117_5118dup NP_001394510.1:p.Thr1707Leufs frameshift NM_001407582.1:c.5117_5118dup NP_001394511.1:p.Thr1707Leufs frameshift NM_001407583.1:c.5114_5115dup NP_001394512.1:p.Thr1706Leufs frameshift NM_001407585.1:c.5114_5115dup NP_001394514.1:p.Thr1706Leufs frameshift NM_001407587.1:c.5114_5115dup NP_001394516.1:p.Thr1706Leufs frameshift NM_001407590.1:c.5111_5112dup NP_001394519.1:p.Thr1705Leufs frameshift NM_001407591.1:c.5111_5112dup NP_001394520.1:p.Thr1705Leufs frameshift NM_001407593.1:c.5051_5052dup NP_001394522.1:p.Thr1685Leufs frameshift NM_001407594.1:c.5051_5052dup NP_001394523.1:p.Thr1685Leufs frameshift NM_001407596.1:c.5051_5052dup NP_001394525.1:p.Thr1685Leufs frameshift NM_001407597.1:c.5051_5052dup NP_001394526.1:p.Thr1685Leufs frameshift NM_001407598.1:c.5051_5052dup NP_001394527.1:p.Thr1685Leufs frameshift NM_001407602.1:c.5051_5052dup NP_001394531.1:p.Thr1685Leufs frameshift NM_001407603.1:c.5051_5052dup NP_001394532.1:p.Thr1685Leufs frameshift NM_001407605.1:c.5051_5052dup NP_001394534.1:p.Thr1685Leufs frameshift NM_001407610.1:c.5048_5049dup NP_001394539.1:p.Thr1684Leufs frameshift NM_001407611.1:c.5048_5049dup NP_001394540.1:p.Thr1684Leufs frameshift NM_001407612.1:c.5048_5049dup NP_001394541.1:p.Thr1684Leufs frameshift NM_001407613.1:c.5048_5049dup NP_001394542.1:p.Thr1684Leufs frameshift NM_001407614.1:c.5048_5049dup NP_001394543.1:p.Thr1684Leufs frameshift NM_001407615.1:c.5048_5049dup NP_001394544.1:p.Thr1684Leufs frameshift NM_001407616.1:c.5048_5049dup NP_001394545.1:p.Thr1684Leufs frameshift NM_001407617.1:c.5048_5049dup NP_001394546.1:p.Thr1684Leufs frameshift NM_001407618.1:c.5048_5049dup NP_001394547.1:p.Thr1684Leufs frameshift NM_001407619.1:c.5048_5049dup NP_001394548.1:p.Thr1684Leufs frameshift NM_001407620.1:c.5048_5049dup NP_001394549.1:p.Thr1684Leufs frameshift NM_001407621.1:c.5048_5049dup NP_001394550.1:p.Thr1684Leufs frameshift NM_001407622.1:c.5048_5049dup NP_001394551.1:p.Thr1684Leufs frameshift NM_001407623.1:c.5048_5049dup NP_001394552.1:p.Thr1684Leufs frameshift NM_001407624.1:c.5048_5049dup NP_001394553.1:p.Thr1684Leufs frameshift NM_001407625.1:c.5048_5049dup NP_001394554.1:p.Thr1684Leufs frameshift NM_001407626.1:c.5048_5049dup NP_001394555.1:p.Thr1684Leufs frameshift NM_001407627.1:c.5045_5046dup NP_001394556.1:p.Thr1683Leufs frameshift NM_001407628.1:c.5045_5046dup NP_001394557.1:p.Thr1683Leufs frameshift NM_001407629.1:c.5045_5046dup NP_001394558.1:p.Thr1683Leufs frameshift NM_001407630.1:c.5045_5046dup NP_001394559.1:p.Thr1683Leufs frameshift NM_001407631.1:c.5045_5046dup NP_001394560.1:p.Thr1683Leufs frameshift NM_001407632.1:c.5045_5046dup NP_001394561.1:p.Thr1683Leufs frameshift NM_001407633.1:c.5045_5046dup NP_001394562.1:p.Thr1683Leufs frameshift NM_001407634.1:c.5045_5046dup NP_001394563.1:p.Thr1683Leufs frameshift NM_001407635.1:c.5045_5046dup NP_001394564.1:p.Thr1683Leufs frameshift NM_001407636.1:c.5045_5046dup NP_001394565.1:p.Thr1683Leufs frameshift NM_001407637.1:c.5045_5046dup NP_001394566.1:p.Thr1683Leufs frameshift NM_001407638.1:c.5045_5046dup NP_001394567.1:p.Thr1683Leufs frameshift NM_001407639.1:c.5045_5046dup NP_001394568.1:p.Thr1683Leufs frameshift NM_001407640.1:c.5045_5046dup NP_001394569.1:p.Thr1683Leufs frameshift NM_001407641.1:c.5045_5046dup NP_001394570.1:p.Thr1683Leufs frameshift NM_001407642.1:c.5045_5046dup NP_001394571.1:p.Thr1683Leufs frameshift NM_001407644.1:c.5042_5043dup NP_001394573.1:p.Thr1682Leufs frameshift NM_001407645.1:c.5042_5043dup NP_001394574.1:p.Thr1682Leufs frameshift NM_001407646.1:c.5039_5040dup NP_001394575.1:p.Thr1681Leufs frameshift NM_001407647.1:c.5036_5037dup NP_001394576.1:p.Thr1680Leufs frameshift NM_001407648.1:c.4994_4995dup NP_001394577.1:p.Thr1666Leufs frameshift NM_001407649.1:c.4991_4992dup NP_001394578.1:p.Thr1665Leufs frameshift NM_001407652.1:c.5051_5052dup NP_001394581.1:p.Thr1685Leufs frameshift NM_001407653.1:c.4973_4974dup NP_001394582.1:p.Thr1659Leufs frameshift NM_001407654.1:c.4973_4974dup NP_001394583.1:p.Thr1659Leufs frameshift NM_001407655.1:c.4973_4974dup NP_001394584.1:p.Thr1659Leufs frameshift NM_001407656.1:c.4970_4971dup NP_001394585.1:p.Thr1658Leufs frameshift NM_001407657.1:c.4970_4971dup NP_001394586.1:p.Thr1658Leufs frameshift NM_001407658.1:c.4970_4971dup NP_001394587.1:p.Thr1658Leufs frameshift NM_001407659.1:c.4967_4968dup NP_001394588.1:p.Thr1657Leufs frameshift NM_001407660.1:c.4967_4968dup NP_001394589.1:p.Thr1657Leufs frameshift NM_001407661.1:c.4967_4968dup NP_001394590.1:p.Thr1657Leufs frameshift NM_001407662.1:c.4967_4968dup NP_001394591.1:p.Thr1657Leufs frameshift NM_001407663.1:c.4967_4968dup NP_001394592.1:p.Thr1657Leufs frameshift NM_001407664.1:c.4928_4929dup NP_001394593.1:p.Thr1644Leufs frameshift NM_001407665.1:c.4928_4929dup NP_001394594.1:p.Thr1644Leufs frameshift NM_001407666.1:c.4928_4929dup NP_001394595.1:p.Thr1644Leufs frameshift NM_001407667.1:c.4928_4929dup NP_001394596.1:p.Thr1644Leufs frameshift NM_001407668.1:c.4928_4929dup NP_001394597.1:p.Thr1644Leufs frameshift NM_001407669.1:c.4928_4929dup NP_001394598.1:p.Thr1644Leufs frameshift NM_001407670.1:c.4925_4926dup NP_001394599.1:p.Thr1643Leufs frameshift NM_001407671.1:c.4925_4926dup NP_001394600.1:p.Thr1643Leufs frameshift NM_001407672.1:c.4925_4926dup NP_001394601.1:p.Thr1643Leufs frameshift NM_001407673.1:c.4925_4926dup NP_001394602.1:p.Thr1643Leufs frameshift NM_001407674.1:c.4925_4926dup NP_001394603.1:p.Thr1643Leufs frameshift NM_001407675.1:c.4925_4926dup NP_001394604.1:p.Thr1643Leufs frameshift NM_001407676.1:c.4925_4926dup NP_001394605.1:p.Thr1643Leufs frameshift NM_001407677.1:c.4925_4926dup NP_001394606.1:p.Thr1643Leufs frameshift NM_001407678.1:c.4925_4926dup NP_001394607.1:p.Thr1643Leufs frameshift NM_001407679.1:c.4925_4926dup NP_001394608.1:p.Thr1643Leufs frameshift NM_001407680.1:c.4925_4926dup NP_001394609.1:p.Thr1643Leufs frameshift NM_001407681.1:c.4922_4923dup NP_001394610.1:p.Thr1642Leufs frameshift NM_001407682.1:c.4922_4923dup NP_001394611.1:p.Thr1642Leufs frameshift NM_001407683.1:c.4922_4923dup NP_001394612.1:p.Thr1642Leufs frameshift NM_001407684.1:c.5051_5052dup NP_001394613.1:p.Thr1685Leufs frameshift NM_001407685.1:c.4922_4923dup NP_001394614.1:p.Thr1642Leufs frameshift NM_001407686.1:c.4922_4923dup NP_001394615.1:p.Thr1642Leufs frameshift NM_001407687.1:c.4922_4923dup NP_001394616.1:p.Thr1642Leufs frameshift NM_001407688.1:c.4922_4923dup NP_001394617.1:p.Thr1642Leufs frameshift NM_001407689.1:c.4922_4923dup NP_001394618.1:p.Thr1642Leufs frameshift NM_001407690.1:c.4919_4920dup NP_001394619.1:p.Thr1641Leufs frameshift NM_001407691.1:c.4919_4920dup NP_001394620.1:p.Thr1641Leufs frameshift NM_001407692.1:c.4910_4911dup NP_001394621.1:p.Thr1638Leufs frameshift NM_001407694.1:c.4910_4911dup NP_001394623.1:p.Thr1638Leufs frameshift NM_001407695.1:c.4910_4911dup NP_001394624.1:p.Thr1638Leufs frameshift NM_001407696.1:c.4910_4911dup NP_001394625.1:p.Thr1638Leufs frameshift NM_001407697.1:c.4910_4911dup NP_001394626.1:p.Thr1638Leufs frameshift NM_001407698.1:c.4910_4911dup NP_001394627.1:p.Thr1638Leufs frameshift NM_001407724.1:c.4910_4911dup NP_001394653.1:p.Thr1638Leufs frameshift NM_001407725.1:c.4910_4911dup NP_001394654.1:p.Thr1638Leufs frameshift NM_001407726.1:c.4910_4911dup NP_001394655.1:p.Thr1638Leufs frameshift NM_001407727.1:c.4910_4911dup NP_001394656.1:p.Thr1638Leufs frameshift NM_001407728.1:c.4910_4911dup NP_001394657.1:p.Thr1638Leufs frameshift NM_001407729.1:c.4910_4911dup NP_001394658.1:p.Thr1638Leufs frameshift NM_001407730.1:c.4910_4911dup NP_001394659.1:p.Thr1638Leufs frameshift NM_001407731.1:c.4910_4911dup NP_001394660.1:p.Thr1638Leufs frameshift NM_001407732.1:c.4907_4908dup NP_001394661.1:p.Thr1637Leufs frameshift NM_001407733.1:c.4907_4908dup NP_001394662.1:p.Thr1637Leufs frameshift NM_001407734.1:c.4907_4908dup NP_001394663.1:p.Thr1637Leufs frameshift NM_001407735.1:c.4907_4908dup NP_001394664.1:p.Thr1637Leufs frameshift NM_001407736.1:c.4907_4908dup NP_001394665.1:p.Thr1637Leufs frameshift NM_001407737.1:c.4907_4908dup NP_001394666.1:p.Thr1637Leufs frameshift NM_001407738.1:c.4907_4908dup NP_001394667.1:p.Thr1637Leufs frameshift NM_001407739.1:c.4907_4908dup NP_001394668.1:p.Thr1637Leufs frameshift NM_001407740.1:c.4907_4908dup NP_001394669.1:p.Thr1637Leufs frameshift NM_001407741.1:c.4907_4908dup NP_001394670.1:p.Thr1637Leufs frameshift NM_001407742.1:c.4907_4908dup NP_001394671.1:p.Thr1637Leufs frameshift NM_001407743.1:c.4907_4908dup NP_001394672.1:p.Thr1637Leufs frameshift NM_001407744.1:c.4907_4908dup NP_001394673.1:p.Thr1637Leufs frameshift NM_001407745.1:c.4907_4908dup NP_001394674.1:p.Thr1637Leufs frameshift NM_001407746.1:c.4907_4908dup NP_001394675.1:p.Thr1637Leufs frameshift NM_001407747.1:c.4907_4908dup NP_001394676.1:p.Thr1637Leufs frameshift NM_001407748.1:c.4907_4908dup NP_001394677.1:p.Thr1637Leufs frameshift NM_001407749.1:c.4907_4908dup NP_001394678.1:p.Thr1637Leufs frameshift NM_001407750.1:c.4907_4908dup NP_001394679.1:p.Thr1637Leufs frameshift NM_001407751.1:c.4907_4908dup NP_001394680.1:p.Thr1637Leufs frameshift NM_001407752.1:c.4907_4908dup NP_001394681.1:p.Thr1637Leufs frameshift NM_001407838.1:c.4904_4905dup NP_001394767.1:p.Thr1636Leufs frameshift NM_001407839.1:c.4904_4905dup NP_001394768.1:p.Thr1636Leufs frameshift NM_001407841.1:c.4904_4905dup NP_001394770.1:p.Thr1636Leufs frameshift NM_001407842.1:c.4904_4905dup NP_001394771.1:p.Thr1636Leufs frameshift NM_001407843.1:c.4904_4905dup NP_001394772.1:p.Thr1636Leufs frameshift NM_001407844.1:c.4904_4905dup NP_001394773.1:p.Thr1636Leufs frameshift NM_001407845.1:c.4904_4905dup NP_001394774.1:p.Thr1636Leufs frameshift NM_001407846.1:c.4904_4905dup NP_001394775.1:p.Thr1636Leufs frameshift NM_001407847.1:c.4904_4905dup NP_001394776.1:p.Thr1636Leufs frameshift NM_001407848.1:c.4904_4905dup NP_001394777.1:p.Thr1636Leufs frameshift NM_001407849.1:c.4904_4905dup NP_001394778.1:p.Thr1636Leufs frameshift NM_001407850.1:c.4904_4905dup NP_001394779.1:p.Thr1636Leufs frameshift NM_001407851.1:c.4904_4905dup NP_001394780.1:p.Thr1636Leufs frameshift NM_001407852.1:c.4904_4905dup NP_001394781.1:p.Thr1636Leufs frameshift NM_001407853.1:c.4904_4905dup NP_001394782.1:p.Thr1636Leufs frameshift NM_001407854.1:c.5051_5052dup NP_001394783.1:p.Thr1685Leufs frameshift NM_001407858.1:c.5048_5049dup NP_001394787.1:p.Thr1684Leufs frameshift NM_001407859.1:c.5048_5049dup NP_001394788.1:p.Thr1684Leufs frameshift NM_001407860.1:c.5048_5049dup NP_001394789.1:p.Thr1684Leufs frameshift NM_001407861.1:c.5045_5046dup NP_001394790.1:p.Thr1683Leufs frameshift NM_001407862.1:c.4850_4851dup NP_001394791.1:p.Thr1618Leufs frameshift NM_001407863.1:c.4925_4926dup NP_001394792.1:p.Thr1643Leufs frameshift NM_001407874.1:c.4844_4845dup NP_001394803.1:p.Thr1616Leufs frameshift NM_001407875.1:c.4844_4845dup NP_001394804.1:p.Thr1616Leufs frameshift NM_001407879.1:c.4841_4842dup NP_001394808.1:p.Thr1615Leufs frameshift NM_001407881.1:c.4841_4842dup NP_001394810.1:p.Thr1615Leufs frameshift NM_001407882.1:c.4841_4842dup NP_001394811.1:p.Thr1615Leufs frameshift NM_001407884.1:c.4841_4842dup NP_001394813.1:p.Thr1615Leufs frameshift NM_001407885.1:c.4841_4842dup NP_001394814.1:p.Thr1615Leufs frameshift NM_001407886.1:c.4841_4842dup NP_001394815.1:p.Thr1615Leufs frameshift NM_001407887.1:c.4841_4842dup NP_001394816.1:p.Thr1615Leufs frameshift NM_001407889.1:c.4841_4842dup NP_001394818.1:p.Thr1615Leufs frameshift NM_001407894.1:c.4838_4839dup NP_001394823.1:p.Thr1614Leufs frameshift NM_001407895.1:c.4838_4839dup NP_001394824.1:p.Thr1614Leufs frameshift NM_001407896.1:c.4838_4839dup NP_001394825.1:p.Thr1614Leufs frameshift NM_001407897.1:c.4838_4839dup NP_001394826.1:p.Thr1614Leufs frameshift NM_001407898.1:c.4838_4839dup NP_001394827.1:p.Thr1614Leufs frameshift NM_001407899.1:c.4838_4839dup NP_001394828.1:p.Thr1614Leufs frameshift NM_001407900.1:c.4838_4839dup NP_001394829.1:p.Thr1614Leufs frameshift NM_001407902.1:c.4838_4839dup NP_001394831.1:p.Thr1614Leufs frameshift NM_001407904.1:c.4838_4839dup NP_001394833.1:p.Thr1614Leufs frameshift NM_001407906.1:c.4838_4839dup NP_001394835.1:p.Thr1614Leufs frameshift NM_001407907.1:c.4838_4839dup NP_001394836.1:p.Thr1614Leufs frameshift NM_001407908.1:c.4838_4839dup NP_001394837.1:p.Thr1614Leufs frameshift NM_001407909.1:c.4838_4839dup NP_001394838.1:p.Thr1614Leufs frameshift NM_001407910.1:c.4838_4839dup NP_001394839.1:p.Thr1614Leufs frameshift NM_001407915.1:c.4835_4836dup NP_001394844.1:p.Thr1613Leufs frameshift NM_001407916.1:c.4835_4836dup NP_001394845.1:p.Thr1613Leufs frameshift NM_001407917.1:c.4835_4836dup NP_001394846.1:p.Thr1613Leufs frameshift NM_001407918.1:c.4835_4836dup NP_001394847.1:p.Thr1613Leufs frameshift NM_001407919.1:c.4928_4929dup NP_001394848.1:p.Thr1644Leufs frameshift NM_001407920.1:c.4787_4788dup NP_001394849.1:p.Thr1597Leufs frameshift NM_001407921.1:c.4787_4788dup NP_001394850.1:p.Thr1597Leufs frameshift NM_001407922.1:c.4787_4788dup NP_001394851.1:p.Thr1597Leufs frameshift NM_001407923.1:c.4787_4788dup NP_001394852.1:p.Thr1597Leufs frameshift NM_001407924.1:c.4787_4788dup NP_001394853.1:p.Thr1597Leufs frameshift NM_001407925.1:c.4787_4788dup NP_001394854.1:p.Thr1597Leufs frameshift NM_001407926.1:c.4787_4788dup NP_001394855.1:p.Thr1597Leufs frameshift NM_001407927.1:c.4784_4785dup NP_001394856.1:p.Thr1596Leufs frameshift NM_001407928.1:c.4784_4785dup NP_001394857.1:p.Thr1596Leufs frameshift NM_001407929.1:c.4784_4785dup NP_001394858.1:p.Thr1596Leufs frameshift NM_001407930.1:c.4784_4785dup NP_001394859.1:p.Thr1596Leufs frameshift NM_001407931.1:c.4784_4785dup NP_001394860.1:p.Thr1596Leufs frameshift NM_001407932.1:c.4784_4785dup NP_001394861.1:p.Thr1596Leufs frameshift NM_001407933.1:c.4784_4785dup NP_001394862.1:p.Thr1596Leufs frameshift NM_001407934.1:c.4781_4782dup NP_001394863.1:p.Thr1595Leufs frameshift NM_001407935.1:c.4781_4782dup NP_001394864.1:p.Thr1595Leufs frameshift NM_001407936.1:c.4781_4782dup NP_001394865.1:p.Thr1595Leufs frameshift NM_001407937.1:c.4928_4929dup NP_001394866.1:p.Thr1644Leufs frameshift NM_001407938.1:c.4928_4929dup NP_001394867.1:p.Thr1644Leufs frameshift NM_001407939.1:c.4925_4926dup NP_001394868.1:p.Thr1643Leufs frameshift NM_001407940.1:c.4925_4926dup NP_001394869.1:p.Thr1643Leufs frameshift NM_001407941.1:c.4922_4923dup NP_001394870.1:p.Thr1642Leufs frameshift NM_001407942.1:c.4910_4911dup NP_001394871.1:p.Thr1638Leufs frameshift NM_001407943.1:c.4907_4908dup NP_001394872.1:p.Thr1637Leufs frameshift NM_001407944.1:c.4907_4908dup NP_001394873.1:p.Thr1637Leufs frameshift NM_001407945.1:c.4907_4908dup NP_001394874.1:p.Thr1637Leufs frameshift NM_001407946.1:c.4718_4719dup NP_001394875.1:p.Thr1574Leufs frameshift NM_001407947.1:c.4718_4719dup NP_001394876.1:p.Thr1574Leufs frameshift NM_001407948.1:c.4718_4719dup NP_001394877.1:p.Thr1574Leufs frameshift NM_001407949.1:c.4718_4719dup NP_001394878.1:p.Thr1574Leufs frameshift NM_001407950.1:c.4715_4716dup NP_001394879.1:p.Thr1573Leufs frameshift NM_001407951.1:c.4715_4716dup NP_001394880.1:p.Thr1573Leufs frameshift NM_001407952.1:c.4715_4716dup NP_001394881.1:p.Thr1573Leufs frameshift NM_001407953.1:c.4715_4716dup NP_001394882.1:p.Thr1573Leufs frameshift NM_001407954.1:c.4715_4716dup NP_001394883.1:p.Thr1573Leufs frameshift NM_001407955.1:c.4715_4716dup NP_001394884.1:p.Thr1573Leufs frameshift NM_001407956.1:c.4712_4713dup NP_001394885.1:p.Thr1572Leufs frameshift NM_001407957.1:c.4712_4713dup NP_001394886.1:p.Thr1572Leufs frameshift NM_001407958.1:c.4712_4713dup NP_001394887.1:p.Thr1572Leufs frameshift NM_001407959.1:c.4670_4671dup NP_001394888.1:p.Thr1558Leufs frameshift NM_001407960.1:c.4667_4668dup NP_001394889.1:p.Thr1557Leufs frameshift NM_001407962.1:c.4667_4668dup NP_001394891.1:p.Thr1557Leufs frameshift NM_001407963.1:c.4664_4665dup NP_001394892.1:p.Thr1556Leufs frameshift NM_001407964.1:c.4589_4590dup NP_001394893.1:p.Thr1531Leufs frameshift NM_001407965.1:c.4544_4545dup NP_001394894.1:p.Thr1516Leufs frameshift NM_001407966.1:c.4163_4164dup NP_001394895.1:p.Thr1389Leufs frameshift NM_001407967.1:c.4160_4161dup NP_001394896.1:p.Thr1388Leufs frameshift NM_001407968.1:c.2447_2448dup NP_001394897.1:p.Thr817Leufs frameshift NM_001407969.1:c.2444_2445dup NP_001394898.1:p.Thr816Leufs frameshift NM_001407970.1:c.1808_1809dup NP_001394899.1:p.Thr604Leufs frameshift NM_001407971.1:c.1808_1809dup NP_001394900.1:p.Thr604Leufs frameshift NM_001407972.1:c.1805_1806dup NP_001394901.1:p.Thr603Leufs frameshift NM_001407973.1:c.1742_1743dup NP_001394902.1:p.Thr582Leufs frameshift NM_001407974.1:c.1742_1743dup NP_001394903.1:p.Thr582Leufs frameshift NM_001407975.1:c.1742_1743dup NP_001394904.1:p.Thr582Leufs frameshift NM_001407976.1:c.1742_1743dup NP_001394905.1:p.Thr582Leufs frameshift NM_001407977.1:c.1742_1743dup NP_001394906.1:p.Thr582Leufs frameshift NM_001407978.1:c.1742_1743dup NP_001394907.1:p.Thr582Leufs frameshift NM_001407979.1:c.1739_1740dup NP_001394908.1:p.Thr581Leufs frameshift NM_001407980.1:c.1739_1740dup NP_001394909.1:p.Thr581Leufs frameshift NM_001407981.1:c.1739_1740dup NP_001394910.1:p.Thr581Leufs frameshift NM_001407982.1:c.1739_1740dup NP_001394911.1:p.Thr581Leufs frameshift NM_001407983.1:c.1739_1740dup NP_001394912.1:p.Thr581Leufs frameshift NM_001407984.1:c.1739_1740dup NP_001394913.1:p.Thr581Leufs frameshift NM_001407985.1:c.1739_1740dup NP_001394914.1:p.Thr581Leufs frameshift NM_001407986.1:c.1739_1740dup NP_001394915.1:p.Thr581Leufs frameshift NM_001407990.1:c.1739_1740dup NP_001394919.1:p.Thr581Leufs frameshift NM_001407991.1:c.1739_1740dup NP_001394920.1:p.Thr581Leufs frameshift NM_001407992.1:c.1739_1740dup NP_001394921.1:p.Thr581Leufs frameshift NM_001407993.1:c.1739_1740dup NP_001394922.1:p.Thr581Leufs frameshift NM_001408392.1:c.1736_1737dup NP_001395321.1:p.Thr580Leufs frameshift NM_001408396.1:c.1736_1737dup NP_001395325.1:p.Thr580Leufs frameshift NM_001408397.1:c.1736_1737dup NP_001395326.1:p.Thr580Leufs frameshift NM_001408398.1:c.1736_1737dup NP_001395327.1:p.Thr580Leufs frameshift NM_001408399.1:c.1736_1737dup NP_001395328.1:p.Thr580Leufs frameshift NM_001408400.1:c.1736_1737dup NP_001395329.1:p.Thr580Leufs frameshift NM_001408401.1:c.1736_1737dup NP_001395330.1:p.Thr580Leufs frameshift NM_001408402.1:c.1736_1737dup NP_001395331.1:p.Thr580Leufs frameshift NM_001408403.1:c.1736_1737dup NP_001395332.1:p.Thr580Leufs frameshift NM_001408404.1:c.1736_1737dup NP_001395333.1:p.Thr580Leufs frameshift NM_001408406.1:c.1733_1734dup NP_001395335.1:p.Thr579Leufs frameshift NM_001408407.1:c.1733_1734dup NP_001395336.1:p.Thr579Leufs frameshift NM_001408408.1:c.1733_1734dup NP_001395337.1:p.Thr579Leufs frameshift NM_001408409.1:c.1730_1731dup NP_001395338.1:p.Thr578Leufs frameshift NM_001408410.1:c.1667_1668dup NP_001395339.1:p.Thr557Leufs frameshift NM_001408411.1:c.1664_1665dup NP_001395340.1:p.Thr556Leufs frameshift NM_001408412.1:c.1661_1662dup NP_001395341.1:p.Thr555Leufs frameshift NM_001408413.1:c.1661_1662dup NP_001395342.1:p.Thr555Leufs frameshift NM_001408414.1:c.1661_1662dup NP_001395343.1:p.Thr555Leufs frameshift NM_001408415.1:c.1661_1662dup NP_001395344.1:p.Thr555Leufs frameshift NM_001408416.1:c.1661_1662dup NP_001395345.1:p.Thr555Leufs frameshift NM_001408418.1:c.1625_1626dup NP_001395347.1:p.Thr543Leufs frameshift NM_001408419.1:c.1625_1626dup NP_001395348.1:p.Thr543Leufs frameshift NM_001408420.1:c.1625_1626dup NP_001395349.1:p.Thr543Leufs frameshift NM_001408421.1:c.1622_1623dup NP_001395350.1:p.Thr542Leufs frameshift NM_001408422.1:c.1622_1623dup NP_001395351.1:p.Thr542Leufs frameshift NM_001408423.1:c.1622_1623dup NP_001395352.1:p.Thr542Leufs frameshift NM_001408424.1:c.1622_1623dup NP_001395353.1:p.Thr542Leufs frameshift NM_001408425.1:c.1619_1620dup NP_001395354.1:p.Thr541Leufs frameshift NM_001408426.1:c.1619_1620dup NP_001395355.1:p.Thr541Leufs frameshift NM_001408427.1:c.1619_1620dup NP_001395356.1:p.Thr541Leufs frameshift NM_001408428.1:c.1619_1620dup NP_001395357.1:p.Thr541Leufs frameshift NM_001408429.1:c.1619_1620dup NP_001395358.1:p.Thr541Leufs frameshift NM_001408430.1:c.1619_1620dup NP_001395359.1:p.Thr541Leufs frameshift NM_001408431.1:c.1619_1620dup NP_001395360.1:p.Thr541Leufs frameshift NM_001408432.1:c.1616_1617dup NP_001395361.1:p.Thr540Leufs frameshift NM_001408433.1:c.1616_1617dup NP_001395362.1:p.Thr540Leufs frameshift NM_001408434.1:c.1616_1617dup NP_001395363.1:p.Thr540Leufs frameshift NM_001408435.1:c.1616_1617dup NP_001395364.1:p.Thr540Leufs frameshift NM_001408436.1:c.1616_1617dup NP_001395365.1:p.Thr540Leufs frameshift NM_001408437.1:c.1616_1617dup NP_001395366.1:p.Thr540Leufs frameshift NM_001408438.1:c.1616_1617dup NP_001395367.1:p.Thr540Leufs frameshift NM_001408439.1:c.1616_1617dup NP_001395368.1:p.Thr540Leufs frameshift NM_001408440.1:c.1616_1617dup NP_001395369.1:p.Thr540Leufs frameshift NM_001408441.1:c.1616_1617dup NP_001395370.1:p.Thr540Leufs frameshift NM_001408442.1:c.1616_1617dup NP_001395371.1:p.Thr540Leufs frameshift NM_001408443.1:c.1616_1617dup NP_001395372.1:p.Thr540Leufs frameshift NM_001408444.1:c.1616_1617dup NP_001395373.1:p.Thr540Leufs frameshift NM_001408445.1:c.1613_1614dup NP_001395374.1:p.Thr539Leufs frameshift NM_001408446.1:c.1613_1614dup NP_001395375.1:p.Thr539Leufs frameshift NM_001408447.1:c.1613_1614dup NP_001395376.1:p.Thr539Leufs frameshift NM_001408448.1:c.1613_1614dup NP_001395377.1:p.Thr539Leufs frameshift NM_001408450.1:c.1613_1614dup NP_001395379.1:p.Thr539Leufs frameshift NM_001408451.1:c.1607_1608dup NP_001395380.1:p.Thr537Leufs frameshift NM_001408452.1:c.1601_1602dup NP_001395381.1:p.Thr535Leufs frameshift NM_001408453.1:c.1601_1602dup NP_001395382.1:p.Thr535Leufs frameshift NM_001408454.1:c.1601_1602dup NP_001395383.1:p.Thr535Leufs frameshift NM_001408455.1:c.1601_1602dup NP_001395384.1:p.Thr535Leufs frameshift NM_001408456.1:c.1601_1602dup NP_001395385.1:p.Thr535Leufs frameshift NM_001408457.1:c.1601_1602dup NP_001395386.1:p.Thr535Leufs frameshift NM_001408458.1:c.1598_1599dup NP_001395387.1:p.Thr534Leufs frameshift NM_001408459.1:c.1598_1599dup NP_001395388.1:p.Thr534Leufs frameshift NM_001408460.1:c.1598_1599dup NP_001395389.1:p.Thr534Leufs frameshift NM_001408461.1:c.1598_1599dup NP_001395390.1:p.Thr534Leufs frameshift NM_001408462.1:c.1598_1599dup NP_001395391.1:p.Thr534Leufs frameshift NM_001408463.1:c.1598_1599dup NP_001395392.1:p.Thr534Leufs frameshift NM_001408464.1:c.1598_1599dup NP_001395393.1:p.Thr534Leufs frameshift NM_001408465.1:c.1598_1599dup NP_001395394.1:p.Thr534Leufs frameshift NM_001408466.1:c.1598_1599dup NP_001395395.1:p.Thr534Leufs frameshift NM_001408467.1:c.1598_1599dup NP_001395396.1:p.Thr534Leufs frameshift NM_001408468.1:c.1595_1596dup NP_001395397.1:p.Thr533Leufs frameshift NM_001408469.1:c.1595_1596dup NP_001395398.1:p.Thr533Leufs frameshift NM_001408470.1:c.1595_1596dup NP_001395399.1:p.Thr533Leufs frameshift NM_001408472.1:c.1739_1740dup NP_001395401.1:p.Thr581Leufs frameshift NM_001408473.1:c.1736_1737dup NP_001395402.1:p.Thr580Leufs frameshift NM_001408474.1:c.1541_1542dup NP_001395403.1:p.Thr515Leufs frameshift NM_001408475.1:c.1538_1539dup NP_001395404.1:p.Thr514Leufs frameshift NM_001408476.1:c.1538_1539dup NP_001395405.1:p.Thr514Leufs frameshift NM_001408478.1:c.1532_1533dup NP_001395407.1:p.Thr512Leufs frameshift NM_001408479.1:c.1532_1533dup NP_001395408.1:p.Thr512Leufs frameshift NM_001408480.1:c.1532_1533dup NP_001395409.1:p.Thr512Leufs frameshift NM_001408481.1:c.1529_1530dup NP_001395410.1:p.Thr511Leufs frameshift NM_001408482.1:c.1529_1530dup NP_001395411.1:p.Thr511Leufs frameshift NM_001408483.1:c.1529_1530dup NP_001395412.1:p.Thr511Leufs frameshift NM_001408484.1:c.1529_1530dup NP_001395413.1:p.Thr511Leufs frameshift NM_001408485.1:c.1529_1530dup NP_001395414.1:p.Thr511Leufs frameshift NM_001408489.1:c.1529_1530dup NP_001395418.1:p.Thr511Leufs frameshift NM_001408490.1:c.1529_1530dup NP_001395419.1:p.Thr511Leufs frameshift NM_001408491.1:c.1529_1530dup NP_001395420.1:p.Thr511Leufs frameshift NM_001408492.1:c.1526_1527dup NP_001395421.1:p.Thr510Leufs frameshift NM_001408493.1:c.1526_1527dup NP_001395422.1:p.Thr510Leufs frameshift NM_001408494.1:c.1502_1503dup NP_001395423.1:p.Thr502Leufs frameshift NM_001408495.1:c.1496_1497dup NP_001395424.1:p.Thr500Leufs frameshift NM_001408496.1:c.1478_1479dup NP_001395425.1:p.Thr494Leufs frameshift NM_001408497.1:c.1478_1479dup NP_001395426.1:p.Thr494Leufs frameshift NM_001408498.1:c.1478_1479dup NP_001395427.1:p.Thr494Leufs frameshift NM_001408499.1:c.1478_1479dup NP_001395428.1:p.Thr494Leufs frameshift NM_001408500.1:c.1478_1479dup NP_001395429.1:p.Thr494Leufs frameshift NM_001408501.1:c.1478_1479dup NP_001395430.1:p.Thr494Leufs frameshift NM_001408502.1:c.1475_1476dup NP_001395431.1:p.Thr493Leufs frameshift NM_001408503.1:c.1475_1476dup NP_001395432.1:p.Thr493Leufs frameshift NM_001408504.1:c.1475_1476dup NP_001395433.1:p.Thr493Leufs frameshift NM_001408505.1:c.1472_1473dup NP_001395434.1:p.Thr492Leufs frameshift NM_001408506.1:c.1415_1416dup NP_001395435.1:p.Thr473Leufs frameshift NM_001408507.1:c.1412_1413dup NP_001395436.1:p.Thr472Leufs frameshift NM_001408508.1:c.1403_1404dup NP_001395437.1:p.Thr469Leufs frameshift NM_001408509.1:c.1400_1401dup NP_001395438.1:p.Thr468Leufs frameshift NM_001408510.1:c.1361_1362dup NP_001395439.1:p.Thr455Leufs frameshift NM_001408511.1:c.1358_1359dup NP_001395440.1:p.Thr454Leufs frameshift NM_001408512.1:c.1238_1239dup NP_001395441.1:p.Thr414Leufs frameshift NM_001408513.1:c.1211_1212dup NP_001395442.1:p.Thr405Leufs frameshift NM_007294.3:c.5051_5052dupCT frameshift NM_007297.4:c.4910_4911dup NP_009228.2:p.Thr1638fs frameshift NM_007298.4:c.1739_1740dup NP_009229.2:p.Thr581Leufs frameshift NM_007299.4:c.1739_1740dup NP_009230.2:p.Thr581fs frameshift NM_007300.4:c.5114_5115dup NP_009231.2:p.Thr1706fs frameshift NM_007304.2:c.1739_1740dup NP_009235.2:p.Thr581Leufs frameshift NR_027676.2:n.5228_5229dup non-coding transcript variant NC_000017.11:g.43067630_43067631dup NC_000017.10:g.41219647_41219648dup NG_005905.2:g.150353_150354dup LRG_292:g.150353_150354dup LRG_292t1:c.5051_5052dup LRG_292p1:p.Thr1685Leufs - Protein change
- T1685fs, T1706fs, T1638fs, T581fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43067629:AG:AGAG
-
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 (1) |
criteria provided, single submitter
|
Dec 18, 2020 | RCV002335737.2 |
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
(Dec 18, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002641305.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.5051_5052dupCT pathogenic mutation, located in coding exon 15 of the BRCA1 gene, results from a duplication of CT at nucleotide position 5051, causing a … (more)
The c.5051_5052dupCT pathogenic mutation, located in coding exon 15 of the BRCA1 gene, results from a duplication of CT at nucleotide position 5051, causing a translational frameshift with a predicted alternate stop codon (p.T1685Lfs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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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:
The c.5051_5052dupCT pathogenic mutation, located in coding exon 15 of the BRCA1 gene, results from a duplication of CT at nucleotide position 5051, causing a translational frameshift with a predicted alternate stop codon (p.T1685Lfs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated May 01, 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.