The c.5117delG pathogenic mutation, located in coding exon 16 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5117, causing a translational frameshift with a predicted alternate stop codon (p.G1706Efs*8). This alteration was identified in 1 of 66 African American women undergoing genetic testing based on a personal and/or family history of breast, ovarian, and/or other gynecologic cancer (Barrington DA et al. Gynecol Oncol, 2018 05;149:337-340). Of note, this alteration is also designated as 5236delG in the published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5117del (p.Gly1706fs)
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
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NM_007294.4(BRCA1):c.5117del (p.Gly1706fs)
Variation ID: 1745441 Accession: VCV001745441.3
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43063909 (GRCh38) [ NCBI UCSC ] 17: 41215926 (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 Oct 31, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5117del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1706fs frameshift NM_001407571.1:c.4903delG NP_001394500.1:p.Gly1635Glufs frameshift NM_001407581.1:c.5182delG NP_001394510.1:p.Gly1728Glufs frameshift NM_001407582.1:c.5182delG NP_001394511.1:p.Gly1728Glufs frameshift NM_001407583.1:c.5179delG NP_001394512.1:p.Gly1727Glufs frameshift NM_001407585.1:c.5179delG NP_001394514.1:p.Gly1727Glufs frameshift NM_001407587.1:c.5179delG NP_001394516.1:p.Gly1727Glufs frameshift NM_001407590.1:c.5176delG NP_001394519.1:p.Gly1726Glufs frameshift NM_001407591.1:c.5176delG NP_001394520.1:p.Gly1726Glufs frameshift NM_001407593.1:c.5116delG NP_001394522.1:p.Gly1706Glufs frameshift NM_001407594.1:c.5116delG NP_001394523.1:p.Gly1706Glufs frameshift NM_001407596.1:c.5116delG NP_001394525.1:p.Gly1706Glufs frameshift NM_001407597.1:c.5116delG NP_001394526.1:p.Gly1706Glufs frameshift NM_001407598.1:c.5116delG NP_001394527.1:p.Gly1706Glufs frameshift NM_001407602.1:c.5116delG NP_001394531.1:p.Gly1706Glufs frameshift NM_001407603.1:c.5116delG NP_001394532.1:p.Gly1706Glufs frameshift NM_001407605.1:c.5116delG NP_001394534.1:p.Gly1706Glufs frameshift NM_001407610.1:c.5113delG NP_001394539.1:p.Gly1705Glufs frameshift NM_001407611.1:c.5113delG NP_001394540.1:p.Gly1705Glufs frameshift NM_001407612.1:c.5113delG NP_001394541.1:p.Gly1705Glufs frameshift NM_001407613.1:c.5113delG NP_001394542.1:p.Gly1705Glufs frameshift NM_001407614.1:c.5113delG NP_001394543.1:p.Gly1705Glufs frameshift NM_001407615.1:c.5113delG NP_001394544.1:p.Gly1705Glufs frameshift NM_001407616.1:c.5113delG NP_001394545.1:p.Gly1705Glufs frameshift NM_001407617.1:c.5113delG NP_001394546.1:p.Gly1705Glufs frameshift NM_001407618.1:c.5113delG NP_001394547.1:p.Gly1705Glufs frameshift NM_001407619.1:c.5113delG NP_001394548.1:p.Gly1705Glufs frameshift NM_001407620.1:c.5113delG NP_001394549.1:p.Gly1705Glufs frameshift NM_001407621.1:c.5113delG NP_001394550.1:p.Gly1705Glufs frameshift NM_001407622.1:c.5113delG NP_001394551.1:p.Gly1705Glufs frameshift NM_001407623.1:c.5113delG NP_001394552.1:p.Gly1705Glufs frameshift NM_001407624.1:c.5113delG NP_001394553.1:p.Gly1705Glufs frameshift NM_001407625.1:c.5113delG NP_001394554.1:p.Gly1705Glufs frameshift NM_001407626.1:c.5113delG NP_001394555.1:p.Gly1705Glufs frameshift NM_001407627.1:c.5110delG NP_001394556.1:p.Gly1704Glufs frameshift NM_001407628.1:c.5110delG NP_001394557.1:p.Gly1704Glufs frameshift NM_001407629.1:c.5110delG NP_001394558.1:p.Gly1704Glufs frameshift NM_001407630.1:c.5110delG NP_001394559.1:p.Gly1704Glufs frameshift NM_001407631.1:c.5110delG NP_001394560.1:p.Gly1704Glufs frameshift NM_001407632.1:c.5110delG NP_001394561.1:p.Gly1704Glufs frameshift NM_001407633.1:c.5110delG NP_001394562.1:p.Gly1704Glufs frameshift NM_001407634.1:c.5110delG NP_001394563.1:p.Gly1704Glufs frameshift NM_001407635.1:c.5110delG NP_001394564.1:p.Gly1704Glufs frameshift NM_001407636.1:c.5110delG NP_001394565.1:p.Gly1704Glufs frameshift NM_001407637.1:c.5110delG NP_001394566.1:p.Gly1704Glufs frameshift NM_001407638.1:c.5110delG NP_001394567.1:p.Gly1704Glufs frameshift NM_001407639.1:c.5110delG NP_001394568.1:p.Gly1704Glufs frameshift NM_001407640.1:c.5110delG NP_001394569.1:p.Gly1704Glufs frameshift NM_001407641.1:c.5110delG NP_001394570.1:p.Gly1704Glufs frameshift NM_001407642.1:c.5110delG NP_001394571.1:p.Gly1704Glufs frameshift NM_001407644.1:c.5107delG NP_001394573.1:p.Gly1703Glufs frameshift NM_001407645.1:c.5107delG NP_001394574.1:p.Gly1703Glufs frameshift NM_001407646.1:c.5104delG NP_001394575.1:p.Gly1702Glufs frameshift NM_001407647.1:c.5101delG NP_001394576.1:p.Gly1701Glufs frameshift NM_001407648.1:c.5059delG NP_001394577.1:p.Gly1687Glufs frameshift NM_001407649.1:c.5056delG NP_001394578.1:p.Gly1686Glufs frameshift NM_001407653.1:c.5038delG NP_001394582.1:p.Gly1680Glufs frameshift NM_001407654.1:c.5038delG NP_001394583.1:p.Gly1680Glufs frameshift NM_001407655.1:c.5038delG NP_001394584.1:p.Gly1680Glufs frameshift NM_001407656.1:c.5035delG NP_001394585.1:p.Gly1679Glufs frameshift NM_001407657.1:c.5035delG NP_001394586.1:p.Gly1679Glufs frameshift NM_001407658.1:c.5035delG NP_001394587.1:p.Gly1679Glufs frameshift NM_001407659.1:c.5032delG NP_001394588.1:p.Gly1678Glufs frameshift NM_001407660.1:c.5032delG NP_001394589.1:p.Gly1678Glufs frameshift NM_001407661.1:c.5032delG NP_001394590.1:p.Gly1678Glufs frameshift NM_001407662.1:c.5032delG NP_001394591.1:p.Gly1678Glufs frameshift NM_001407663.1:c.5032delG NP_001394592.1:p.Gly1678Glufs frameshift NM_001407664.1:c.4993delG NP_001394593.1:p.Gly1665Glufs frameshift NM_001407665.1:c.4993delG NP_001394594.1:p.Gly1665Glufs frameshift NM_001407666.1:c.4993delG NP_001394595.1:p.Gly1665Glufs frameshift NM_001407667.1:c.4993delG NP_001394596.1:p.Gly1665Glufs frameshift NM_001407668.1:c.4993delG NP_001394597.1:p.Gly1665Glufs frameshift NM_001407669.1:c.4993delG NP_001394598.1:p.Gly1665Glufs frameshift NM_001407670.1:c.4990delG NP_001394599.1:p.Gly1664Glufs frameshift NM_001407671.1:c.4990delG NP_001394600.1:p.Gly1664Glufs frameshift NM_001407672.1:c.4990delG NP_001394601.1:p.Gly1664Glufs frameshift NM_001407673.1:c.4990delG NP_001394602.1:p.Gly1664Glufs frameshift NM_001407674.1:c.4990delG NP_001394603.1:p.Gly1664Glufs frameshift NM_001407675.1:c.4990delG NP_001394604.1:p.Gly1664Glufs frameshift NM_001407676.1:c.4990delG NP_001394605.1:p.Gly1664Glufs frameshift NM_001407677.1:c.4990delG NP_001394606.1:p.Gly1664Glufs frameshift NM_001407678.1:c.4990delG NP_001394607.1:p.Gly1664Glufs frameshift NM_001407679.1:c.4990delG NP_001394608.1:p.Gly1664Glufs frameshift NM_001407680.1:c.4990delG NP_001394609.1:p.Gly1664Glufs frameshift NM_001407681.1:c.4987delG NP_001394610.1:p.Gly1663Glufs frameshift NM_001407682.1:c.4987delG NP_001394611.1:p.Gly1663Glufs frameshift NM_001407683.1:c.4987delG NP_001394612.1:p.Gly1663Glufs frameshift NM_001407684.1:c.5116delG NP_001394613.1:p.Gly1706Glufs frameshift NM_001407685.1:c.4987delG NP_001394614.1:p.Gly1663Glufs frameshift NM_001407686.1:c.4987delG NP_001394615.1:p.Gly1663Glufs frameshift NM_001407687.1:c.4987delG NP_001394616.1:p.Gly1663Glufs frameshift NM_001407688.1:c.4987delG NP_001394617.1:p.Gly1663Glufs frameshift NM_001407689.1:c.4987delG NP_001394618.1:p.Gly1663Glufs frameshift NM_001407690.1:c.4984delG NP_001394619.1:p.Gly1662Glufs frameshift NM_001407691.1:c.4984delG NP_001394620.1:p.Gly1662Glufs frameshift NM_001407692.1:c.4975delG NP_001394621.1:p.Gly1659Glufs frameshift NM_001407694.1:c.4975delG NP_001394623.1:p.Gly1659Glufs frameshift NM_001407695.1:c.4975delG NP_001394624.1:p.Gly1659Glufs frameshift NM_001407696.1:c.4975delG NP_001394625.1:p.Gly1659Glufs frameshift NM_001407697.1:c.4975delG NP_001394626.1:p.Gly1659Glufs frameshift NM_001407698.1:c.4975delG NP_001394627.1:p.Gly1659Glufs frameshift NM_001407724.1:c.4975delG NP_001394653.1:p.Gly1659Glufs frameshift NM_001407725.1:c.4975delG NP_001394654.1:p.Gly1659Glufs frameshift NM_001407726.1:c.4975delG NP_001394655.1:p.Gly1659Glufs frameshift NM_001407727.1:c.4975delG NP_001394656.1:p.Gly1659Glufs frameshift NM_001407728.1:c.4975delG NP_001394657.1:p.Gly1659Glufs frameshift NM_001407729.1:c.4975delG NP_001394658.1:p.Gly1659Glufs frameshift NM_001407730.1:c.4975delG NP_001394659.1:p.Gly1659Glufs frameshift NM_001407731.1:c.4975delG NP_001394660.1:p.Gly1659Glufs frameshift NM_001407732.1:c.4972delG NP_001394661.1:p.Gly1658Glufs frameshift NM_001407733.1:c.4972delG NP_001394662.1:p.Gly1658Glufs frameshift NM_001407734.1:c.4972delG NP_001394663.1:p.Gly1658Glufs frameshift NM_001407735.1:c.4972delG NP_001394664.1:p.Gly1658Glufs frameshift NM_001407736.1:c.4972delG NP_001394665.1:p.Gly1658Glufs frameshift NM_001407737.1:c.4972delG NP_001394666.1:p.Gly1658Glufs frameshift NM_001407738.1:c.4972delG NP_001394667.1:p.Gly1658Glufs frameshift NM_001407739.1:c.4972delG NP_001394668.1:p.Gly1658Glufs frameshift NM_001407740.1:c.4972delG NP_001394669.1:p.Gly1658Glufs frameshift NM_001407741.1:c.4972delG NP_001394670.1:p.Gly1658Glufs frameshift NM_001407742.1:c.4972delG NP_001394671.1:p.Gly1658Glufs frameshift NM_001407743.1:c.4972delG NP_001394672.1:p.Gly1658Glufs frameshift NM_001407744.1:c.4972delG NP_001394673.1:p.Gly1658Glufs frameshift NM_001407745.1:c.4972delG NP_001394674.1:p.Gly1658Glufs frameshift NM_001407746.1:c.4972delG NP_001394675.1:p.Gly1658Glufs frameshift NM_001407747.1:c.4972delG NP_001394676.1:p.Gly1658Glufs frameshift NM_001407748.1:c.4972delG NP_001394677.1:p.Gly1658Glufs frameshift NM_001407749.1:c.4972delG NP_001394678.1:p.Gly1658Glufs frameshift NM_001407750.1:c.4972delG NP_001394679.1:p.Gly1658Glufs frameshift NM_001407751.1:c.4972delG NP_001394680.1:p.Gly1658Glufs frameshift NM_001407752.1:c.4972delG NP_001394681.1:p.Gly1658Glufs frameshift NM_001407838.1:c.4969delG NP_001394767.1:p.Gly1657Glufs frameshift NM_001407839.1:c.4969delG NP_001394768.1:p.Gly1657Glufs frameshift NM_001407841.1:c.4969delG NP_001394770.1:p.Gly1657Glufs frameshift NM_001407842.1:c.4969delG NP_001394771.1:p.Gly1657Glufs frameshift NM_001407843.1:c.4969delG NP_001394772.1:p.Gly1657Glufs frameshift NM_001407844.1:c.4969delG NP_001394773.1:p.Gly1657Glufs frameshift NM_001407845.1:c.4969delG NP_001394774.1:p.Gly1657Glufs frameshift NM_001407846.1:c.4969delG NP_001394775.1:p.Gly1657Glufs frameshift NM_001407847.1:c.4969delG NP_001394776.1:p.Gly1657Glufs frameshift NM_001407848.1:c.4969delG NP_001394777.1:p.Gly1657Glufs frameshift NM_001407849.1:c.4969delG NP_001394778.1:p.Gly1657Glufs frameshift NM_001407850.1:c.4969delG NP_001394779.1:p.Gly1657Glufs frameshift NM_001407851.1:c.4969delG NP_001394780.1:p.Gly1657Glufs frameshift NM_001407852.1:c.4969delG NP_001394781.1:p.Gly1657Glufs frameshift NM_001407853.1:c.4969delG NP_001394782.1:p.Gly1657Glufs frameshift NM_001407854.1:c.5116delG NP_001394783.1:p.Gly1706Glufs frameshift NM_001407858.1:c.5113delG NP_001394787.1:p.Gly1705Glufs frameshift NM_001407859.1:c.5113delG NP_001394788.1:p.Gly1705Glufs frameshift NM_001407860.1:c.5113delG NP_001394789.1:p.Gly1705Glufs frameshift NM_001407861.1:c.5110delG NP_001394790.1:p.Gly1704Glufs frameshift NM_001407862.1:c.4915delG NP_001394791.1:p.Gly1639Glufs frameshift NM_001407874.1:c.4909delG NP_001394803.1:p.Gly1637Glufs frameshift NM_001407875.1:c.4909delG NP_001394804.1:p.Gly1637Glufs frameshift NM_001407879.1:c.4906delG NP_001394808.1:p.Gly1636Glufs frameshift NM_001407881.1:c.4906delG NP_001394810.1:p.Gly1636Glufs frameshift NM_001407882.1:c.4906delG NP_001394811.1:p.Gly1636Glufs frameshift NM_001407884.1:c.4906delG NP_001394813.1:p.Gly1636Glufs frameshift NM_001407885.1:c.4906delG NP_001394814.1:p.Gly1636Glufs frameshift NM_001407886.1:c.4906delG NP_001394815.1:p.Gly1636Glufs frameshift NM_001407887.1:c.4906delG NP_001394816.1:p.Gly1636Glufs frameshift NM_001407889.1:c.4906delG NP_001394818.1:p.Gly1636Glufs frameshift NM_001407894.1:c.4903delG NP_001394823.1:p.Gly1635Glufs frameshift NM_001407895.1:c.4903delG NP_001394824.1:p.Gly1635Glufs frameshift NM_001407896.1:c.4903delG NP_001394825.1:p.Gly1635Glufs frameshift NM_001407897.1:c.4903delG NP_001394826.1:p.Gly1635Glufs frameshift NM_001407898.1:c.4903delG NP_001394827.1:p.Gly1635Glufs frameshift NM_001407899.1:c.4903delG NP_001394828.1:p.Gly1635Glufs frameshift NM_001407900.1:c.4903delG NP_001394829.1:p.Gly1635Glufs frameshift NM_001407902.1:c.4903delG NP_001394831.1:p.Gly1635Glufs frameshift NM_001407904.1:c.4903delG NP_001394833.1:p.Gly1635Glufs frameshift NM_001407906.1:c.4903delG NP_001394835.1:p.Gly1635Glufs frameshift NM_001407907.1:c.4903delG NP_001394836.1:p.Gly1635Glufs frameshift NM_001407908.1:c.4903delG NP_001394837.1:p.Gly1635Glufs frameshift NM_001407909.1:c.4903delG NP_001394838.1:p.Gly1635Glufs frameshift NM_001407910.1:c.4903delG NP_001394839.1:p.Gly1635Glufs frameshift NM_001407915.1:c.4900delG NP_001394844.1:p.Gly1634Glufs frameshift NM_001407916.1:c.4900delG NP_001394845.1:p.Gly1634Glufs frameshift NM_001407917.1:c.4900delG NP_001394846.1:p.Gly1634Glufs frameshift NM_001407918.1:c.4900delG NP_001394847.1:p.Gly1634Glufs frameshift NM_001407919.1:c.4993delG NP_001394848.1:p.Gly1665Glufs frameshift NM_001407920.1:c.4852delG NP_001394849.1:p.Gly1618Glufs frameshift NM_001407921.1:c.4852delG NP_001394850.1:p.Gly1618Glufs frameshift NM_001407922.1:c.4852delG NP_001394851.1:p.Gly1618Glufs frameshift NM_001407923.1:c.4852delG NP_001394852.1:p.Gly1618Glufs frameshift NM_001407924.1:c.4852delG NP_001394853.1:p.Gly1618Glufs frameshift NM_001407925.1:c.4852delG NP_001394854.1:p.Gly1618Glufs frameshift NM_001407926.1:c.4852delG NP_001394855.1:p.Gly1618Glufs frameshift NM_001407927.1:c.4849delG NP_001394856.1:p.Gly1617Glufs frameshift NM_001407928.1:c.4849delG NP_001394857.1:p.Gly1617Glufs frameshift NM_001407929.1:c.4849delG NP_001394858.1:p.Gly1617Glufs frameshift NM_001407930.1:c.4849delG NP_001394859.1:p.Gly1617Glufs frameshift NM_001407931.1:c.4849delG NP_001394860.1:p.Gly1617Glufs frameshift NM_001407932.1:c.4849delG NP_001394861.1:p.Gly1617Glufs frameshift NM_001407933.1:c.4849delG NP_001394862.1:p.Gly1617Glufs frameshift NM_001407934.1:c.4846delG NP_001394863.1:p.Gly1616Glufs frameshift NM_001407935.1:c.4846delG NP_001394864.1:p.Gly1616Glufs frameshift NM_001407936.1:c.4846delG NP_001394865.1:p.Gly1616Glufs frameshift NM_001407937.1:c.4993delG NP_001394866.1:p.Gly1665Glufs frameshift NM_001407938.1:c.4993delG NP_001394867.1:p.Gly1665Glufs frameshift NM_001407939.1:c.4990delG NP_001394868.1:p.Gly1664Glufs frameshift NM_001407940.1:c.4990delG NP_001394869.1:p.Gly1664Glufs frameshift NM_001407941.1:c.4987delG NP_001394870.1:p.Gly1663Glufs frameshift NM_001407942.1:c.4975delG NP_001394871.1:p.Gly1659Glufs frameshift NM_001407943.1:c.4972delG NP_001394872.1:p.Gly1658Glufs frameshift NM_001407944.1:c.4972delG NP_001394873.1:p.Gly1658Glufs frameshift NM_001407945.1:c.4972delG NP_001394874.1:p.Gly1658Glufs frameshift NM_001407946.1:c.4783delG NP_001394875.1:p.Gly1595Glufs frameshift NM_001407947.1:c.4783delG NP_001394876.1:p.Gly1595Glufs frameshift NM_001407948.1:c.4783delG NP_001394877.1:p.Gly1595Glufs frameshift NM_001407949.1:c.4783delG NP_001394878.1:p.Gly1595Glufs frameshift NM_001407950.1:c.4780delG NP_001394879.1:p.Gly1594Glufs frameshift NM_001407951.1:c.4780delG NP_001394880.1:p.Gly1594Glufs frameshift NM_001407952.1:c.4780delG NP_001394881.1:p.Gly1594Glufs frameshift NM_001407953.1:c.4780delG NP_001394882.1:p.Gly1594Glufs frameshift NM_001407954.1:c.4780delG NP_001394883.1:p.Gly1594Glufs frameshift NM_001407955.1:c.4780delG NP_001394884.1:p.Gly1594Glufs frameshift NM_001407956.1:c.4777delG NP_001394885.1:p.Gly1593Glufs frameshift NM_001407957.1:c.4777delG NP_001394886.1:p.Gly1593Glufs frameshift NM_001407958.1:c.4777delG NP_001394887.1:p.Gly1593Glufs frameshift NM_001407959.1:c.4735delG NP_001394888.1:p.Gly1579Glufs frameshift NM_001407960.1:c.4732delG NP_001394889.1:p.Gly1578Glufs frameshift NM_001407962.1:c.4732delG NP_001394891.1:p.Gly1578Glufs frameshift NM_001407963.1:c.4729delG NP_001394892.1:p.Gly1577Glufs frameshift NM_001407964.1:c.4654delG NP_001394893.1:p.Gly1552Glufs frameshift NM_001407965.1:c.4609delG NP_001394894.1:p.Gly1537Glufs frameshift NM_001407966.1:c.4228delG NP_001394895.1:p.Gly1410Glufs frameshift NM_001407967.1:c.4225delG NP_001394896.1:p.Gly1409Glufs frameshift NM_001407968.1:c.2512delG NP_001394897.1:p.Gly838Glufs frameshift NM_001407969.1:c.2509delG NP_001394898.1:p.Gly837Glufs frameshift NM_001407970.1:c.1873delG NP_001394899.1:p.Gly625Glufs frameshift NM_001407971.1:c.1873delG NP_001394900.1:p.Gly625Glufs frameshift NM_001407972.1:c.1870delG NP_001394901.1:p.Gly624Glufs frameshift NM_001407973.1:c.1807delG NP_001394902.1:p.Gly603Glufs frameshift NM_001407974.1:c.1807delG NP_001394903.1:p.Gly603Glufs frameshift NM_001407975.1:c.1807delG NP_001394904.1:p.Gly603Glufs frameshift NM_001407976.1:c.1807delG NP_001394905.1:p.Gly603Glufs frameshift NM_001407977.1:c.1807delG NP_001394906.1:p.Gly603Glufs frameshift NM_001407978.1:c.1807delG NP_001394907.1:p.Gly603Glufs frameshift NM_001407979.1:c.1804delG NP_001394908.1:p.Gly602Glufs frameshift NM_001407980.1:c.1804delG NP_001394909.1:p.Gly602Glufs frameshift NM_001407981.1:c.1804delG NP_001394910.1:p.Gly602Glufs frameshift NM_001407982.1:c.1804delG NP_001394911.1:p.Gly602Glufs frameshift NM_001407983.1:c.1804delG NP_001394912.1:p.Gly602Glufs frameshift NM_001407984.1:c.1804delG NP_001394913.1:p.Gly602Glufs frameshift NM_001407985.1:c.1804delG NP_001394914.1:p.Gly602Glufs frameshift NM_001407986.1:c.1804delG NP_001394915.1:p.Gly602Glufs frameshift NM_001407990.1:c.1804delG NP_001394919.1:p.Gly602Glufs frameshift NM_001407991.1:c.1804delG NP_001394920.1:p.Gly602Glufs frameshift NM_001407992.1:c.1804delG NP_001394921.1:p.Gly602Glufs frameshift NM_001407993.1:c.1804delG NP_001394922.1:p.Gly602Glufs frameshift NM_001408392.1:c.1801delG NP_001395321.1:p.Gly601Glufs frameshift NM_001408396.1:c.1801delG NP_001395325.1:p.Gly601Glufs frameshift NM_001408397.1:c.1801delG NP_001395326.1:p.Gly601Glufs frameshift NM_001408398.1:c.1801delG NP_001395327.1:p.Gly601Glufs frameshift NM_001408399.1:c.1801delG NP_001395328.1:p.Gly601Glufs frameshift NM_001408400.1:c.1801delG NP_001395329.1:p.Gly601Glufs frameshift NM_001408401.1:c.1801delG NP_001395330.1:p.Gly601Glufs frameshift NM_001408402.1:c.1801delG NP_001395331.1:p.Gly601Glufs frameshift NM_001408403.1:c.1801delG NP_001395332.1:p.Gly601Glufs frameshift NM_001408404.1:c.1801delG NP_001395333.1:p.Gly601Glufs frameshift NM_001408406.1:c.1798delG NP_001395335.1:p.Gly600Glufs frameshift NM_001408407.1:c.1798delG NP_001395336.1:p.Gly600Glufs frameshift NM_001408408.1:c.1798delG NP_001395337.1:p.Gly600Glufs frameshift NM_001408409.1:c.1795delG NP_001395338.1:p.Gly599Glufs frameshift NM_001408410.1:c.1732delG NP_001395339.1:p.Gly578Glufs frameshift NM_001408411.1:c.1729delG NP_001395340.1:p.Gly577Glufs frameshift NM_001408412.1:c.1726delG NP_001395341.1:p.Gly576Glufs frameshift NM_001408413.1:c.1726delG NP_001395342.1:p.Gly576Glufs frameshift NM_001408414.1:c.1726delG NP_001395343.1:p.Gly576Glufs frameshift NM_001408415.1:c.1726delG NP_001395344.1:p.Gly576Glufs frameshift NM_001408416.1:c.1726delG NP_001395345.1:p.Gly576Glufs frameshift NM_001408418.1:c.1690delG NP_001395347.1:p.Gly564Glufs frameshift NM_001408419.1:c.1690delG NP_001395348.1:p.Gly564Glufs frameshift NM_001408420.1:c.1690delG NP_001395349.1:p.Gly564Glufs frameshift NM_001408421.1:c.1687delG NP_001395350.1:p.Gly563Glufs frameshift NM_001408422.1:c.1687delG NP_001395351.1:p.Gly563Glufs frameshift NM_001408423.1:c.1687delG NP_001395352.1:p.Gly563Glufs frameshift NM_001408424.1:c.1687delG NP_001395353.1:p.Gly563Glufs frameshift NM_001408425.1:c.1684delG NP_001395354.1:p.Gly562Glufs frameshift NM_001408426.1:c.1684delG NP_001395355.1:p.Gly562Glufs frameshift NM_001408427.1:c.1684delG NP_001395356.1:p.Gly562Glufs frameshift NM_001408428.1:c.1684delG NP_001395357.1:p.Gly562Glufs frameshift NM_001408429.1:c.1684delG NP_001395358.1:p.Gly562Glufs frameshift NM_001408430.1:c.1684delG NP_001395359.1:p.Gly562Glufs frameshift NM_001408431.1:c.1684delG NP_001395360.1:p.Gly562Glufs frameshift NM_001408432.1:c.1681delG NP_001395361.1:p.Gly561Glufs frameshift NM_001408433.1:c.1681delG NP_001395362.1:p.Gly561Glufs frameshift NM_001408434.1:c.1681delG NP_001395363.1:p.Gly561Glufs frameshift NM_001408435.1:c.1681delG NP_001395364.1:p.Gly561Glufs frameshift NM_001408436.1:c.1681delG NP_001395365.1:p.Gly561Glufs frameshift NM_001408437.1:c.1681delG NP_001395366.1:p.Gly561Glufs frameshift NM_001408438.1:c.1681delG NP_001395367.1:p.Gly561Glufs frameshift NM_001408439.1:c.1681delG NP_001395368.1:p.Gly561Glufs frameshift NM_001408440.1:c.1681delG NP_001395369.1:p.Gly561Glufs frameshift NM_001408441.1:c.1681delG NP_001395370.1:p.Gly561Glufs frameshift NM_001408442.1:c.1681delG NP_001395371.1:p.Gly561Glufs frameshift NM_001408443.1:c.1681delG NP_001395372.1:p.Gly561Glufs frameshift NM_001408444.1:c.1681delG NP_001395373.1:p.Gly561Glufs frameshift NM_001408445.1:c.1678delG NP_001395374.1:p.Gly560Glufs frameshift NM_001408446.1:c.1678delG NP_001395375.1:p.Gly560Glufs frameshift NM_001408447.1:c.1678delG NP_001395376.1:p.Gly560Glufs frameshift NM_001408448.1:c.1678delG NP_001395377.1:p.Gly560Glufs frameshift NM_001408450.1:c.1678delG NP_001395379.1:p.Gly560Glufs frameshift NM_001408451.1:c.1672delG NP_001395380.1:p.Gly558Glufs frameshift NM_001408452.1:c.1666delG NP_001395381.1:p.Gly556Glufs frameshift NM_001408453.1:c.1666delG NP_001395382.1:p.Gly556Glufs frameshift NM_001408454.1:c.1666delG NP_001395383.1:p.Gly556Glufs frameshift NM_001408455.1:c.1666delG NP_001395384.1:p.Gly556Glufs frameshift NM_001408456.1:c.1666delG NP_001395385.1:p.Gly556Glufs frameshift NM_001408457.1:c.1666delG NP_001395386.1:p.Gly556Glufs frameshift NM_001408458.1:c.1663delG NP_001395387.1:p.Gly555Glufs frameshift NM_001408459.1:c.1663delG NP_001395388.1:p.Gly555Glufs frameshift NM_001408460.1:c.1663delG NP_001395389.1:p.Gly555Glufs frameshift NM_001408461.1:c.1663delG NP_001395390.1:p.Gly555Glufs frameshift NM_001408462.1:c.1663delG NP_001395391.1:p.Gly555Glufs frameshift NM_001408463.1:c.1663delG NP_001395392.1:p.Gly555Glufs frameshift NM_001408464.1:c.1663delG NP_001395393.1:p.Gly555Glufs frameshift NM_001408465.1:c.1663delG NP_001395394.1:p.Gly555Glufs frameshift NM_001408466.1:c.1663delG NP_001395395.1:p.Gly555Glufs frameshift NM_001408467.1:c.1663delG NP_001395396.1:p.Gly555Glufs frameshift NM_001408468.1:c.1660delG NP_001395397.1:p.Gly554Glufs frameshift NM_001408469.1:c.1660delG NP_001395398.1:p.Gly554Glufs frameshift NM_001408470.1:c.1660delG NP_001395399.1:p.Gly554Glufs frameshift NM_001408472.1:c.1804delG NP_001395401.1:p.Gly602Glufs frameshift NM_001408473.1:c.1801delG NP_001395402.1:p.Gly601Glufs frameshift NM_001408474.1:c.1606delG NP_001395403.1:p.Gly536Glufs frameshift NM_001408475.1:c.1603delG NP_001395404.1:p.Gly535Glufs frameshift NM_001408476.1:c.1603delG NP_001395405.1:p.Gly535Glufs frameshift NM_001408478.1:c.1597delG NP_001395407.1:p.Gly533Glufs frameshift NM_001408479.1:c.1597delG NP_001395408.1:p.Gly533Glufs frameshift NM_001408480.1:c.1597delG NP_001395409.1:p.Gly533Glufs frameshift NM_001408481.1:c.1594delG NP_001395410.1:p.Gly532Glufs frameshift NM_001408482.1:c.1594delG NP_001395411.1:p.Gly532Glufs frameshift NM_001408483.1:c.1594delG NP_001395412.1:p.Gly532Glufs frameshift NM_001408484.1:c.1594delG NP_001395413.1:p.Gly532Glufs frameshift NM_001408485.1:c.1594delG NP_001395414.1:p.Gly532Glufs frameshift NM_001408489.1:c.1594delG NP_001395418.1:p.Gly532Glufs frameshift NM_001408490.1:c.1594delG NP_001395419.1:p.Gly532Glufs frameshift NM_001408491.1:c.1594delG NP_001395420.1:p.Gly532Glufs frameshift NM_001408492.1:c.1591delG NP_001395421.1:p.Gly531Glufs frameshift NM_001408493.1:c.1591delG NP_001395422.1:p.Gly531Glufs frameshift NM_001408494.1:c.1567delG NP_001395423.1:p.Gly523Glufs frameshift NM_001408495.1:c.1561delG NP_001395424.1:p.Gly521Glufs frameshift NM_001408496.1:c.1543delG NP_001395425.1:p.Gly515Glufs frameshift NM_001408497.1:c.1543delG NP_001395426.1:p.Gly515Glufs frameshift NM_001408498.1:c.1543delG NP_001395427.1:p.Gly515Glufs frameshift NM_001408499.1:c.1543delG NP_001395428.1:p.Gly515Glufs frameshift NM_001408500.1:c.1543delG NP_001395429.1:p.Gly515Glufs frameshift NM_001408501.1:c.1543delG NP_001395430.1:p.Gly515Glufs frameshift NM_001408502.1:c.1540delG NP_001395431.1:p.Gly514Glufs frameshift NM_001408503.1:c.1540delG NP_001395432.1:p.Gly514Glufs frameshift NM_001408504.1:c.1540delG NP_001395433.1:p.Gly514Glufs frameshift NM_001408505.1:c.1537delG NP_001395434.1:p.Gly513Glufs frameshift NM_001408506.1:c.1480delG NP_001395435.1:p.Gly494Glufs frameshift NM_001408507.1:c.1477delG NP_001395436.1:p.Gly493Glufs frameshift NM_001408508.1:c.1468delG NP_001395437.1:p.Gly490Glufs frameshift NM_001408509.1:c.1465delG NP_001395438.1:p.Gly489Glufs frameshift NM_001408510.1:c.1426delG NP_001395439.1:p.Gly476Glufs frameshift NM_001408511.1:c.1423delG NP_001395440.1:p.Gly475Glufs frameshift NM_001408512.1:c.1303delG NP_001395441.1:p.Gly435Glufs frameshift NM_001408513.1:c.1276delG NP_001395442.1:p.Gly426Glufs frameshift NM_001408514.1:c.880delG NP_001395443.1:p.Gly294Glufs frameshift NM_007294.3:c.5117delG frameshift NM_007297.4:c.4976del NP_009228.2:p.Gly1659fs frameshift NM_007298.4:c.1804delG NP_009229.2:p.Gly602Glufs frameshift NM_007299.4:c.1805del NP_009230.2:p.Gly602fs frameshift NM_007300.4:c.5180del NP_009231.2:p.Gly1727fs frameshift NM_007304.2:c.1804delG NP_009235.2:p.Gly602Glufs frameshift NR_027676.2:n.5294del non-coding transcript variant NC_000017.11:g.43063910del NC_000017.10:g.41215927del NG_005905.2:g.154075del LRG_292:g.154075del LRG_292t1:c.5116del LRG_292p1:p.Gly1706Glufs - Protein change
- G1706fs, G602fs, G1659fs, G1727fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063908:CC:C
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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
|
Oct 31, 2022 | RCV002336050.3 |
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 31, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002643879.3
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.5117delG pathogenic mutation, located in coding exon 16 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5117, causing … (more)
The c.5117delG pathogenic mutation, located in coding exon 16 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5117, causing a translational frameshift with a predicted alternate stop codon (p.G1706Efs*8). This alteration was identified in 1 of 66 African American women undergoing genetic testing based on a personal and/or family history of breast, ovarian, and/or other gynecologic cancer (Barrington DA et al. Gynecol Oncol, 2018 05;149:337-340). Of note, this alteration is also designated as 5236delG in the published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
Comment:
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.5117delG pathogenic mutation, located in coding exon 16 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5117, causing a translational frameshift with a predicted alternate stop codon (p.G1706Efs*8). This alteration was identified in 1 of 66 African American women undergoing genetic testing based on a personal and/or family history of breast, ovarian, and/or other gynecologic cancer (Barrington DA et al. Gynecol Oncol, 2018 05;149:337-340). Of note, this alteration is also designated as 5236delG in the published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic. | Barrington DA | Gynecologic oncology | 2018 | PMID: 29486991 |
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.