ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
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.
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
Variation ID: 55406 Accession: VCV000055406.58
- Type and length
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single nucleotide variant, 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 Apr 1, 2014 May 1, 2024 Aug 10, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5117G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1706Ala missense NM_001407571.1:c.4904G>C NP_001394500.1:p.Gly1635Ala missense NM_001407581.1:c.5183G>C NP_001394510.1:p.Gly1728Ala missense NM_001407582.1:c.5183G>C NP_001394511.1:p.Gly1728Ala missense NM_001407583.1:c.5180G>C NP_001394512.1:p.Gly1727Ala missense NM_001407585.1:c.5180G>C NP_001394514.1:p.Gly1727Ala missense NM_001407587.1:c.5180G>C NP_001394516.1:p.Gly1727Ala missense NM_001407590.1:c.5177G>C NP_001394519.1:p.Gly1726Ala missense NM_001407591.1:c.5177G>C NP_001394520.1:p.Gly1726Ala missense NM_001407593.1:c.5117G>C NP_001394522.1:p.Gly1706Ala missense NM_001407594.1:c.5117G>C NP_001394523.1:p.Gly1706Ala missense NM_001407596.1:c.5117G>C NP_001394525.1:p.Gly1706Ala missense NM_001407597.1:c.5117G>C NP_001394526.1:p.Gly1706Ala missense NM_001407598.1:c.5117G>C NP_001394527.1:p.Gly1706Ala missense NM_001407602.1:c.5117G>C NP_001394531.1:p.Gly1706Ala missense NM_001407603.1:c.5117G>C NP_001394532.1:p.Gly1706Ala missense NM_001407605.1:c.5117G>C NP_001394534.1:p.Gly1706Ala missense NM_001407610.1:c.5114G>C NP_001394539.1:p.Gly1705Ala missense NM_001407611.1:c.5114G>C NP_001394540.1:p.Gly1705Ala missense NM_001407612.1:c.5114G>C NP_001394541.1:p.Gly1705Ala missense NM_001407613.1:c.5114G>C NP_001394542.1:p.Gly1705Ala missense NM_001407614.1:c.5114G>C NP_001394543.1:p.Gly1705Ala missense NM_001407615.1:c.5114G>C NP_001394544.1:p.Gly1705Ala missense NM_001407616.1:c.5114G>C NP_001394545.1:p.Gly1705Ala missense NM_001407617.1:c.5114G>C NP_001394546.1:p.Gly1705Ala missense NM_001407618.1:c.5114G>C NP_001394547.1:p.Gly1705Ala missense NM_001407619.1:c.5114G>C NP_001394548.1:p.Gly1705Ala missense NM_001407620.1:c.5114G>C NP_001394549.1:p.Gly1705Ala missense NM_001407621.1:c.5114G>C NP_001394550.1:p.Gly1705Ala missense NM_001407622.1:c.5114G>C NP_001394551.1:p.Gly1705Ala missense NM_001407623.1:c.5114G>C NP_001394552.1:p.Gly1705Ala missense NM_001407624.1:c.5114G>C NP_001394553.1:p.Gly1705Ala missense NM_001407625.1:c.5114G>C NP_001394554.1:p.Gly1705Ala missense NM_001407626.1:c.5114G>C NP_001394555.1:p.Gly1705Ala missense NM_001407627.1:c.5111G>C NP_001394556.1:p.Gly1704Ala missense NM_001407628.1:c.5111G>C NP_001394557.1:p.Gly1704Ala missense NM_001407629.1:c.5111G>C NP_001394558.1:p.Gly1704Ala missense NM_001407630.1:c.5111G>C NP_001394559.1:p.Gly1704Ala missense NM_001407631.1:c.5111G>C NP_001394560.1:p.Gly1704Ala missense NM_001407632.1:c.5111G>C NP_001394561.1:p.Gly1704Ala missense NM_001407633.1:c.5111G>C NP_001394562.1:p.Gly1704Ala missense NM_001407634.1:c.5111G>C NP_001394563.1:p.Gly1704Ala missense NM_001407635.1:c.5111G>C NP_001394564.1:p.Gly1704Ala missense NM_001407636.1:c.5111G>C NP_001394565.1:p.Gly1704Ala missense NM_001407637.1:c.5111G>C NP_001394566.1:p.Gly1704Ala missense NM_001407638.1:c.5111G>C NP_001394567.1:p.Gly1704Ala missense NM_001407639.1:c.5111G>C NP_001394568.1:p.Gly1704Ala missense NM_001407640.1:c.5111G>C NP_001394569.1:p.Gly1704Ala missense NM_001407641.1:c.5111G>C NP_001394570.1:p.Gly1704Ala missense NM_001407642.1:c.5111G>C NP_001394571.1:p.Gly1704Ala missense NM_001407644.1:c.5108G>C NP_001394573.1:p.Gly1703Ala missense NM_001407645.1:c.5108G>C NP_001394574.1:p.Gly1703Ala missense NM_001407646.1:c.5105G>C NP_001394575.1:p.Gly1702Ala missense NM_001407647.1:c.5102G>C NP_001394576.1:p.Gly1701Ala missense NM_001407648.1:c.5060G>C NP_001394577.1:p.Gly1687Ala missense NM_001407649.1:c.5057G>C NP_001394578.1:p.Gly1686Ala missense NM_001407653.1:c.5039G>C NP_001394582.1:p.Gly1680Ala missense NM_001407654.1:c.5039G>C NP_001394583.1:p.Gly1680Ala missense NM_001407655.1:c.5039G>C NP_001394584.1:p.Gly1680Ala missense NM_001407656.1:c.5036G>C NP_001394585.1:p.Gly1679Ala missense NM_001407657.1:c.5036G>C NP_001394586.1:p.Gly1679Ala missense NM_001407658.1:c.5036G>C NP_001394587.1:p.Gly1679Ala missense NM_001407659.1:c.5033G>C NP_001394588.1:p.Gly1678Ala missense NM_001407660.1:c.5033G>C NP_001394589.1:p.Gly1678Ala missense NM_001407661.1:c.5033G>C NP_001394590.1:p.Gly1678Ala missense NM_001407662.1:c.5033G>C NP_001394591.1:p.Gly1678Ala missense NM_001407663.1:c.5033G>C NP_001394592.1:p.Gly1678Ala missense NM_001407664.1:c.4994G>C NP_001394593.1:p.Gly1665Ala missense NM_001407665.1:c.4994G>C NP_001394594.1:p.Gly1665Ala missense NM_001407666.1:c.4994G>C NP_001394595.1:p.Gly1665Ala missense NM_001407667.1:c.4994G>C NP_001394596.1:p.Gly1665Ala missense NM_001407668.1:c.4994G>C NP_001394597.1:p.Gly1665Ala missense NM_001407669.1:c.4994G>C NP_001394598.1:p.Gly1665Ala missense NM_001407670.1:c.4991G>C NP_001394599.1:p.Gly1664Ala missense NM_001407671.1:c.4991G>C NP_001394600.1:p.Gly1664Ala missense NM_001407672.1:c.4991G>C NP_001394601.1:p.Gly1664Ala missense NM_001407673.1:c.4991G>C NP_001394602.1:p.Gly1664Ala missense NM_001407674.1:c.4991G>C NP_001394603.1:p.Gly1664Ala missense NM_001407675.1:c.4991G>C NP_001394604.1:p.Gly1664Ala missense NM_001407676.1:c.4991G>C NP_001394605.1:p.Gly1664Ala missense NM_001407677.1:c.4991G>C NP_001394606.1:p.Gly1664Ala missense NM_001407678.1:c.4991G>C NP_001394607.1:p.Gly1664Ala missense NM_001407679.1:c.4991G>C NP_001394608.1:p.Gly1664Ala missense NM_001407680.1:c.4991G>C NP_001394609.1:p.Gly1664Ala missense NM_001407681.1:c.4988G>C NP_001394610.1:p.Gly1663Ala missense NM_001407682.1:c.4988G>C NP_001394611.1:p.Gly1663Ala missense NM_001407683.1:c.4988G>C NP_001394612.1:p.Gly1663Ala missense NM_001407684.1:c.5117G>C NP_001394613.1:p.Gly1706Ala missense NM_001407685.1:c.4988G>C NP_001394614.1:p.Gly1663Ala missense NM_001407686.1:c.4988G>C NP_001394615.1:p.Gly1663Ala missense NM_001407687.1:c.4988G>C NP_001394616.1:p.Gly1663Ala missense NM_001407688.1:c.4988G>C NP_001394617.1:p.Gly1663Ala missense NM_001407689.1:c.4988G>C NP_001394618.1:p.Gly1663Ala missense NM_001407690.1:c.4985G>C NP_001394619.1:p.Gly1662Ala missense NM_001407691.1:c.4985G>C NP_001394620.1:p.Gly1662Ala missense NM_001407692.1:c.4976G>C NP_001394621.1:p.Gly1659Ala missense NM_001407694.1:c.4976G>C NP_001394623.1:p.Gly1659Ala missense NM_001407695.1:c.4976G>C NP_001394624.1:p.Gly1659Ala missense NM_001407696.1:c.4976G>C NP_001394625.1:p.Gly1659Ala missense NM_001407697.1:c.4976G>C NP_001394626.1:p.Gly1659Ala missense NM_001407698.1:c.4976G>C NP_001394627.1:p.Gly1659Ala missense NM_001407724.1:c.4976G>C NP_001394653.1:p.Gly1659Ala missense NM_001407725.1:c.4976G>C NP_001394654.1:p.Gly1659Ala missense NM_001407726.1:c.4976G>C NP_001394655.1:p.Gly1659Ala missense NM_001407727.1:c.4976G>C NP_001394656.1:p.Gly1659Ala missense NM_001407728.1:c.4976G>C NP_001394657.1:p.Gly1659Ala missense NM_001407729.1:c.4976G>C NP_001394658.1:p.Gly1659Ala missense NM_001407730.1:c.4976G>C NP_001394659.1:p.Gly1659Ala missense NM_001407731.1:c.4976G>C NP_001394660.1:p.Gly1659Ala missense NM_001407732.1:c.4973G>C NP_001394661.1:p.Gly1658Ala missense NM_001407733.1:c.4973G>C NP_001394662.1:p.Gly1658Ala missense NM_001407734.1:c.4973G>C NP_001394663.1:p.Gly1658Ala missense NM_001407735.1:c.4973G>C NP_001394664.1:p.Gly1658Ala missense NM_001407736.1:c.4973G>C NP_001394665.1:p.Gly1658Ala missense NM_001407737.1:c.4973G>C NP_001394666.1:p.Gly1658Ala missense NM_001407738.1:c.4973G>C NP_001394667.1:p.Gly1658Ala missense NM_001407739.1:c.4973G>C NP_001394668.1:p.Gly1658Ala missense NM_001407740.1:c.4973G>C NP_001394669.1:p.Gly1658Ala missense NM_001407741.1:c.4973G>C NP_001394670.1:p.Gly1658Ala missense NM_001407742.1:c.4973G>C NP_001394671.1:p.Gly1658Ala missense NM_001407743.1:c.4973G>C NP_001394672.1:p.Gly1658Ala missense NM_001407744.1:c.4973G>C NP_001394673.1:p.Gly1658Ala missense NM_001407745.1:c.4973G>C NP_001394674.1:p.Gly1658Ala missense NM_001407746.1:c.4973G>C NP_001394675.1:p.Gly1658Ala missense NM_001407747.1:c.4973G>C NP_001394676.1:p.Gly1658Ala missense NM_001407748.1:c.4973G>C NP_001394677.1:p.Gly1658Ala missense NM_001407749.1:c.4973G>C NP_001394678.1:p.Gly1658Ala missense NM_001407750.1:c.4973G>C NP_001394679.1:p.Gly1658Ala missense NM_001407751.1:c.4973G>C NP_001394680.1:p.Gly1658Ala missense NM_001407752.1:c.4973G>C NP_001394681.1:p.Gly1658Ala missense NM_001407838.1:c.4970G>C NP_001394767.1:p.Gly1657Ala missense NM_001407839.1:c.4970G>C NP_001394768.1:p.Gly1657Ala missense NM_001407841.1:c.4970G>C NP_001394770.1:p.Gly1657Ala missense NM_001407842.1:c.4970G>C NP_001394771.1:p.Gly1657Ala missense NM_001407843.1:c.4970G>C NP_001394772.1:p.Gly1657Ala missense NM_001407844.1:c.4970G>C NP_001394773.1:p.Gly1657Ala missense NM_001407845.1:c.4970G>C NP_001394774.1:p.Gly1657Ala missense NM_001407846.1:c.4970G>C NP_001394775.1:p.Gly1657Ala missense NM_001407847.1:c.4970G>C NP_001394776.1:p.Gly1657Ala missense NM_001407848.1:c.4970G>C NP_001394777.1:p.Gly1657Ala missense NM_001407849.1:c.4970G>C NP_001394778.1:p.Gly1657Ala missense NM_001407850.1:c.4970G>C NP_001394779.1:p.Gly1657Ala missense NM_001407851.1:c.4970G>C NP_001394780.1:p.Gly1657Ala missense NM_001407852.1:c.4970G>C NP_001394781.1:p.Gly1657Ala missense NM_001407853.1:c.4970G>C NP_001394782.1:p.Gly1657Ala missense NM_001407854.1:c.5117G>C NP_001394783.1:p.Gly1706Ala missense NM_001407858.1:c.5114G>C NP_001394787.1:p.Gly1705Ala missense NM_001407859.1:c.5114G>C NP_001394788.1:p.Gly1705Ala missense NM_001407860.1:c.5114G>C NP_001394789.1:p.Gly1705Ala missense NM_001407861.1:c.5111G>C NP_001394790.1:p.Gly1704Ala missense NM_001407862.1:c.4916G>C NP_001394791.1:p.Gly1639Ala missense NM_001407874.1:c.4910G>C NP_001394803.1:p.Gly1637Ala missense NM_001407875.1:c.4910G>C NP_001394804.1:p.Gly1637Ala missense NM_001407879.1:c.4907G>C NP_001394808.1:p.Gly1636Ala missense NM_001407881.1:c.4907G>C NP_001394810.1:p.Gly1636Ala missense NM_001407882.1:c.4907G>C NP_001394811.1:p.Gly1636Ala missense NM_001407884.1:c.4907G>C NP_001394813.1:p.Gly1636Ala missense NM_001407885.1:c.4907G>C NP_001394814.1:p.Gly1636Ala missense NM_001407886.1:c.4907G>C NP_001394815.1:p.Gly1636Ala missense NM_001407887.1:c.4907G>C NP_001394816.1:p.Gly1636Ala missense NM_001407889.1:c.4907G>C NP_001394818.1:p.Gly1636Ala missense NM_001407894.1:c.4904G>C NP_001394823.1:p.Gly1635Ala missense NM_001407895.1:c.4904G>C NP_001394824.1:p.Gly1635Ala missense NM_001407896.1:c.4904G>C NP_001394825.1:p.Gly1635Ala missense NM_001407897.1:c.4904G>C NP_001394826.1:p.Gly1635Ala missense NM_001407898.1:c.4904G>C NP_001394827.1:p.Gly1635Ala missense NM_001407899.1:c.4904G>C NP_001394828.1:p.Gly1635Ala missense NM_001407900.1:c.4904G>C NP_001394829.1:p.Gly1635Ala missense NM_001407902.1:c.4904G>C NP_001394831.1:p.Gly1635Ala missense NM_001407904.1:c.4904G>C NP_001394833.1:p.Gly1635Ala missense NM_001407906.1:c.4904G>C NP_001394835.1:p.Gly1635Ala missense NM_001407907.1:c.4904G>C NP_001394836.1:p.Gly1635Ala missense NM_001407908.1:c.4904G>C NP_001394837.1:p.Gly1635Ala missense NM_001407909.1:c.4904G>C NP_001394838.1:p.Gly1635Ala missense NM_001407910.1:c.4904G>C NP_001394839.1:p.Gly1635Ala missense NM_001407915.1:c.4901G>C NP_001394844.1:p.Gly1634Ala missense NM_001407916.1:c.4901G>C NP_001394845.1:p.Gly1634Ala missense NM_001407917.1:c.4901G>C NP_001394846.1:p.Gly1634Ala missense NM_001407918.1:c.4901G>C NP_001394847.1:p.Gly1634Ala missense NM_001407919.1:c.4994G>C NP_001394848.1:p.Gly1665Ala missense NM_001407920.1:c.4853G>C NP_001394849.1:p.Gly1618Ala missense NM_001407921.1:c.4853G>C NP_001394850.1:p.Gly1618Ala missense NM_001407922.1:c.4853G>C NP_001394851.1:p.Gly1618Ala missense NM_001407923.1:c.4853G>C NP_001394852.1:p.Gly1618Ala missense NM_001407924.1:c.4853G>C NP_001394853.1:p.Gly1618Ala missense NM_001407925.1:c.4853G>C NP_001394854.1:p.Gly1618Ala missense NM_001407926.1:c.4853G>C NP_001394855.1:p.Gly1618Ala missense NM_001407927.1:c.4850G>C NP_001394856.1:p.Gly1617Ala missense NM_001407928.1:c.4850G>C NP_001394857.1:p.Gly1617Ala missense NM_001407929.1:c.4850G>C NP_001394858.1:p.Gly1617Ala missense NM_001407930.1:c.4850G>C NP_001394859.1:p.Gly1617Ala missense NM_001407931.1:c.4850G>C NP_001394860.1:p.Gly1617Ala missense NM_001407932.1:c.4850G>C NP_001394861.1:p.Gly1617Ala missense NM_001407933.1:c.4850G>C NP_001394862.1:p.Gly1617Ala missense NM_001407934.1:c.4847G>C NP_001394863.1:p.Gly1616Ala missense NM_001407935.1:c.4847G>C NP_001394864.1:p.Gly1616Ala missense NM_001407936.1:c.4847G>C NP_001394865.1:p.Gly1616Ala missense NM_001407937.1:c.4994G>C NP_001394866.1:p.Gly1665Ala missense NM_001407938.1:c.4994G>C NP_001394867.1:p.Gly1665Ala missense NM_001407939.1:c.4991G>C NP_001394868.1:p.Gly1664Ala missense NM_001407940.1:c.4991G>C NP_001394869.1:p.Gly1664Ala missense NM_001407941.1:c.4988G>C NP_001394870.1:p.Gly1663Ala missense NM_001407942.1:c.4976G>C NP_001394871.1:p.Gly1659Ala missense NM_001407943.1:c.4973G>C NP_001394872.1:p.Gly1658Ala missense NM_001407944.1:c.4973G>C NP_001394873.1:p.Gly1658Ala missense NM_001407945.1:c.4973G>C NP_001394874.1:p.Gly1658Ala missense NM_001407946.1:c.4784G>C NP_001394875.1:p.Gly1595Ala missense NM_001407947.1:c.4784G>C NP_001394876.1:p.Gly1595Ala missense NM_001407948.1:c.4784G>C NP_001394877.1:p.Gly1595Ala missense NM_001407949.1:c.4784G>C NP_001394878.1:p.Gly1595Ala missense NM_001407950.1:c.4781G>C NP_001394879.1:p.Gly1594Ala missense NM_001407951.1:c.4781G>C NP_001394880.1:p.Gly1594Ala missense NM_001407952.1:c.4781G>C NP_001394881.1:p.Gly1594Ala missense NM_001407953.1:c.4781G>C NP_001394882.1:p.Gly1594Ala missense NM_001407954.1:c.4781G>C NP_001394883.1:p.Gly1594Ala missense NM_001407955.1:c.4781G>C NP_001394884.1:p.Gly1594Ala missense NM_001407956.1:c.4778G>C NP_001394885.1:p.Gly1593Ala missense NM_001407957.1:c.4778G>C NP_001394886.1:p.Gly1593Ala missense NM_001407958.1:c.4778G>C NP_001394887.1:p.Gly1593Ala missense NM_001407959.1:c.4736G>C NP_001394888.1:p.Gly1579Ala missense NM_001407960.1:c.4733G>C NP_001394889.1:p.Gly1578Ala missense NM_001407962.1:c.4733G>C NP_001394891.1:p.Gly1578Ala missense NM_001407963.1:c.4730G>C NP_001394892.1:p.Gly1577Ala missense NM_001407964.1:c.4655G>C NP_001394893.1:p.Gly1552Ala missense NM_001407965.1:c.4610G>C NP_001394894.1:p.Gly1537Ala missense NM_001407966.1:c.4229G>C NP_001394895.1:p.Gly1410Ala missense NM_001407967.1:c.4226G>C NP_001394896.1:p.Gly1409Ala missense NM_001407968.1:c.2513G>C NP_001394897.1:p.Gly838Ala missense NM_001407969.1:c.2510G>C NP_001394898.1:p.Gly837Ala missense NM_001407970.1:c.1874G>C NP_001394899.1:p.Gly625Ala missense NM_001407971.1:c.1874G>C NP_001394900.1:p.Gly625Ala missense NM_001407972.1:c.1871G>C NP_001394901.1:p.Gly624Ala missense NM_001407973.1:c.1808G>C NP_001394902.1:p.Gly603Ala missense NM_001407974.1:c.1808G>C NP_001394903.1:p.Gly603Ala missense NM_001407975.1:c.1808G>C NP_001394904.1:p.Gly603Ala missense NM_001407976.1:c.1808G>C NP_001394905.1:p.Gly603Ala missense NM_001407977.1:c.1808G>C NP_001394906.1:p.Gly603Ala missense NM_001407978.1:c.1808G>C NP_001394907.1:p.Gly603Ala missense NM_001407979.1:c.1805G>C NP_001394908.1:p.Gly602Ala missense NM_001407980.1:c.1805G>C NP_001394909.1:p.Gly602Ala missense NM_001407981.1:c.1805G>C NP_001394910.1:p.Gly602Ala missense NM_001407982.1:c.1805G>C NP_001394911.1:p.Gly602Ala missense NM_001407983.1:c.1805G>C NP_001394912.1:p.Gly602Ala missense NM_001407984.1:c.1805G>C NP_001394913.1:p.Gly602Ala missense NM_001407985.1:c.1805G>C NP_001394914.1:p.Gly602Ala missense NM_001407986.1:c.1805G>C NP_001394915.1:p.Gly602Ala missense NM_001407990.1:c.1805G>C NP_001394919.1:p.Gly602Ala missense NM_001407991.1:c.1805G>C NP_001394920.1:p.Gly602Ala missense NM_001407992.1:c.1805G>C NP_001394921.1:p.Gly602Ala missense NM_001407993.1:c.1805G>C NP_001394922.1:p.Gly602Ala missense NM_001408392.1:c.1802G>C NP_001395321.1:p.Gly601Ala missense NM_001408396.1:c.1802G>C NP_001395325.1:p.Gly601Ala missense NM_001408397.1:c.1802G>C NP_001395326.1:p.Gly601Ala missense NM_001408398.1:c.1802G>C NP_001395327.1:p.Gly601Ala missense NM_001408399.1:c.1802G>C NP_001395328.1:p.Gly601Ala missense NM_001408400.1:c.1802G>C NP_001395329.1:p.Gly601Ala missense NM_001408401.1:c.1802G>C NP_001395330.1:p.Gly601Ala missense NM_001408402.1:c.1802G>C NP_001395331.1:p.Gly601Ala missense NM_001408403.1:c.1802G>C NP_001395332.1:p.Gly601Ala missense NM_001408404.1:c.1802G>C NP_001395333.1:p.Gly601Ala missense NM_001408406.1:c.1799G>C NP_001395335.1:p.Gly600Ala missense NM_001408407.1:c.1799G>C NP_001395336.1:p.Gly600Ala missense NM_001408408.1:c.1799G>C NP_001395337.1:p.Gly600Ala missense NM_001408409.1:c.1796G>C NP_001395338.1:p.Gly599Ala missense NM_001408410.1:c.1733G>C NP_001395339.1:p.Gly578Ala missense NM_001408411.1:c.1730G>C NP_001395340.1:p.Gly577Ala missense NM_001408412.1:c.1727G>C NP_001395341.1:p.Gly576Ala missense NM_001408413.1:c.1727G>C NP_001395342.1:p.Gly576Ala missense NM_001408414.1:c.1727G>C NP_001395343.1:p.Gly576Ala missense NM_001408415.1:c.1727G>C NP_001395344.1:p.Gly576Ala missense NM_001408416.1:c.1727G>C NP_001395345.1:p.Gly576Ala missense NM_001408418.1:c.1691G>C NP_001395347.1:p.Gly564Ala missense NM_001408419.1:c.1691G>C NP_001395348.1:p.Gly564Ala missense NM_001408420.1:c.1691G>C NP_001395349.1:p.Gly564Ala missense NM_001408421.1:c.1688G>C NP_001395350.1:p.Gly563Ala missense NM_001408422.1:c.1688G>C NP_001395351.1:p.Gly563Ala missense NM_001408423.1:c.1688G>C NP_001395352.1:p.Gly563Ala missense NM_001408424.1:c.1688G>C NP_001395353.1:p.Gly563Ala missense NM_001408425.1:c.1685G>C NP_001395354.1:p.Gly562Ala missense NM_001408426.1:c.1685G>C NP_001395355.1:p.Gly562Ala missense NM_001408427.1:c.1685G>C NP_001395356.1:p.Gly562Ala missense NM_001408428.1:c.1685G>C NP_001395357.1:p.Gly562Ala missense NM_001408429.1:c.1685G>C NP_001395358.1:p.Gly562Ala missense NM_001408430.1:c.1685G>C NP_001395359.1:p.Gly562Ala missense NM_001408431.1:c.1685G>C NP_001395360.1:p.Gly562Ala missense NM_001408432.1:c.1682G>C NP_001395361.1:p.Gly561Ala missense NM_001408433.1:c.1682G>C NP_001395362.1:p.Gly561Ala missense NM_001408434.1:c.1682G>C NP_001395363.1:p.Gly561Ala missense NM_001408435.1:c.1682G>C NP_001395364.1:p.Gly561Ala missense NM_001408436.1:c.1682G>C NP_001395365.1:p.Gly561Ala missense NM_001408437.1:c.1682G>C NP_001395366.1:p.Gly561Ala missense NM_001408438.1:c.1682G>C NP_001395367.1:p.Gly561Ala missense NM_001408439.1:c.1682G>C NP_001395368.1:p.Gly561Ala missense NM_001408440.1:c.1682G>C NP_001395369.1:p.Gly561Ala missense NM_001408441.1:c.1682G>C NP_001395370.1:p.Gly561Ala missense NM_001408442.1:c.1682G>C NP_001395371.1:p.Gly561Ala missense NM_001408443.1:c.1682G>C NP_001395372.1:p.Gly561Ala missense NM_001408444.1:c.1682G>C NP_001395373.1:p.Gly561Ala missense NM_001408445.1:c.1679G>C NP_001395374.1:p.Gly560Ala missense NM_001408446.1:c.1679G>C NP_001395375.1:p.Gly560Ala missense NM_001408447.1:c.1679G>C NP_001395376.1:p.Gly560Ala missense NM_001408448.1:c.1679G>C NP_001395377.1:p.Gly560Ala missense NM_001408450.1:c.1679G>C NP_001395379.1:p.Gly560Ala missense NM_001408451.1:c.1673G>C NP_001395380.1:p.Gly558Ala missense NM_001408452.1:c.1667G>C NP_001395381.1:p.Gly556Ala missense NM_001408453.1:c.1667G>C NP_001395382.1:p.Gly556Ala missense NM_001408454.1:c.1667G>C NP_001395383.1:p.Gly556Ala missense NM_001408455.1:c.1667G>C NP_001395384.1:p.Gly556Ala missense NM_001408456.1:c.1667G>C NP_001395385.1:p.Gly556Ala missense NM_001408457.1:c.1667G>C NP_001395386.1:p.Gly556Ala missense NM_001408458.1:c.1664G>C NP_001395387.1:p.Gly555Ala missense NM_001408459.1:c.1664G>C NP_001395388.1:p.Gly555Ala missense NM_001408460.1:c.1664G>C NP_001395389.1:p.Gly555Ala missense NM_001408461.1:c.1664G>C NP_001395390.1:p.Gly555Ala missense NM_001408462.1:c.1664G>C NP_001395391.1:p.Gly555Ala missense NM_001408463.1:c.1664G>C NP_001395392.1:p.Gly555Ala missense NM_001408464.1:c.1664G>C NP_001395393.1:p.Gly555Ala missense NM_001408465.1:c.1664G>C NP_001395394.1:p.Gly555Ala missense NM_001408466.1:c.1664G>C NP_001395395.1:p.Gly555Ala missense NM_001408467.1:c.1664G>C NP_001395396.1:p.Gly555Ala missense NM_001408468.1:c.1661G>C NP_001395397.1:p.Gly554Ala missense NM_001408469.1:c.1661G>C NP_001395398.1:p.Gly554Ala missense NM_001408470.1:c.1661G>C NP_001395399.1:p.Gly554Ala missense NM_001408472.1:c.1805G>C NP_001395401.1:p.Gly602Ala missense NM_001408473.1:c.1802G>C NP_001395402.1:p.Gly601Ala missense NM_001408474.1:c.1607G>C NP_001395403.1:p.Gly536Ala missense NM_001408475.1:c.1604G>C NP_001395404.1:p.Gly535Ala missense NM_001408476.1:c.1604G>C NP_001395405.1:p.Gly535Ala missense NM_001408478.1:c.1598G>C NP_001395407.1:p.Gly533Ala missense NM_001408479.1:c.1598G>C NP_001395408.1:p.Gly533Ala missense NM_001408480.1:c.1598G>C NP_001395409.1:p.Gly533Ala missense NM_001408481.1:c.1595G>C NP_001395410.1:p.Gly532Ala missense NM_001408482.1:c.1595G>C NP_001395411.1:p.Gly532Ala missense NM_001408483.1:c.1595G>C NP_001395412.1:p.Gly532Ala missense NM_001408484.1:c.1595G>C NP_001395413.1:p.Gly532Ala missense NM_001408485.1:c.1595G>C NP_001395414.1:p.Gly532Ala missense NM_001408489.1:c.1595G>C NP_001395418.1:p.Gly532Ala missense NM_001408490.1:c.1595G>C NP_001395419.1:p.Gly532Ala missense NM_001408491.1:c.1595G>C NP_001395420.1:p.Gly532Ala missense NM_001408492.1:c.1592G>C NP_001395421.1:p.Gly531Ala missense NM_001408493.1:c.1592G>C NP_001395422.1:p.Gly531Ala missense NM_001408494.1:c.1568G>C NP_001395423.1:p.Gly523Ala missense NM_001408495.1:c.1562G>C NP_001395424.1:p.Gly521Ala missense NM_001408496.1:c.1544G>C NP_001395425.1:p.Gly515Ala missense NM_001408497.1:c.1544G>C NP_001395426.1:p.Gly515Ala missense NM_001408498.1:c.1544G>C NP_001395427.1:p.Gly515Ala missense NM_001408499.1:c.1544G>C NP_001395428.1:p.Gly515Ala missense NM_001408500.1:c.1544G>C NP_001395429.1:p.Gly515Ala missense NM_001408501.1:c.1544G>C NP_001395430.1:p.Gly515Ala missense NM_001408502.1:c.1541G>C NP_001395431.1:p.Gly514Ala missense NM_001408503.1:c.1541G>C NP_001395432.1:p.Gly514Ala missense NM_001408504.1:c.1541G>C NP_001395433.1:p.Gly514Ala missense NM_001408505.1:c.1538G>C NP_001395434.1:p.Gly513Ala missense NM_001408506.1:c.1481G>C NP_001395435.1:p.Gly494Ala missense NM_001408507.1:c.1478G>C NP_001395436.1:p.Gly493Ala missense NM_001408508.1:c.1469G>C NP_001395437.1:p.Gly490Ala missense NM_001408509.1:c.1466G>C NP_001395438.1:p.Gly489Ala missense NM_001408510.1:c.1427G>C NP_001395439.1:p.Gly476Ala missense NM_001408511.1:c.1424G>C NP_001395440.1:p.Gly475Ala missense NM_001408512.1:c.1304G>C NP_001395441.1:p.Gly435Ala missense NM_001408513.1:c.1277G>C NP_001395442.1:p.Gly426Ala missense NM_001408514.1:c.881G>C NP_001395443.1:p.Gly294Ala missense NM_007297.4:c.4976G>C NP_009228.2:p.Gly1659Ala missense NM_007298.4:c.1805G>C NP_009229.2:p.Gly602Ala missense NM_007299.4:c.1805G>C NP_009230.2:p.Gly602Ala missense NM_007300.4:c.5180G>C NP_009231.2:p.Gly1727Ala missense NM_007304.2:c.1805G>C NP_009235.2:p.Gly602Ala missense NR_027676.2:n.5294G>C non-coding transcript variant NC_000017.11:g.43063909C>G NC_000017.10:g.41215926C>G NG_005905.2:g.154075G>C LRG_292:g.154075G>C LRG_292t1:c.5117G>C LRG_292p1:p.Gly1706Ala P38398:p.Gly1706Ala U14680.1:n.5236G>C - Protein change
- G1706A, G1659A, G602A, G1727A, G1409A, G1595A, G1665A, G1703A, G426A, G435A, G489A, G493A, G494A, G521A, G523A, G555A, G556A, G558A, G560A, G576A, G578A, G599A, G838A, G1552A, G1577A, G1616A, G1617A, G1634A, G1636A, G1637A, G1658A, G1679A, G1680A, G1686A, G1704A, G294A, G514A, G564A, G600A, G624A, G1594A, G1639A, G1657A, G1663A, G1678A, G1702A, G1705A, G513A, G535A, G561A, G562A, G563A, G601A, G603A, G625A, G837A, G1410A, G1537A, G1578A, G1579A, G1593A, G1618A, G1635A, G1662A, G1664A, G1687A, G1701A, G1726A, G1728A, G475A, G476A, G490A, G515A, G531A, G532A, G533A, G536A, G554A, G577A
- Other names
- p.G1706A:GGA>GCA
- 5236G>C
- Canonical SPDI
- NC_000017.11:43063908:C:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_normal Sequence Ontology [SO:0002219]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5117G>C, a MISSENSE variant, produced a function score of -0.05, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
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.
-
0.00020 (G)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00005
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00009
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
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 |
12876 | 14661 |
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. |
---|---|---|---|---|
Benign/Likely benign (5) |
criteria provided, multiple submitters, no conflicts
|
Aug 15, 2023 | RCV000048801.25 | |
Benign (10) |
reviewed by expert panel
|
Aug 10, 2015 | RCV000077598.23 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 18, 2021 | RCV000162991.15 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Oct 5, 2020 | RCV000586262.14 | |
Benign/Likely benign (2) |
criteria provided, multiple submitters, no conflicts
|
Jan 25, 2024 | RCV001086320.15 | |
Likely benign (1) |
no assertion criteria provided
|
- | RCV001353853.9 |
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. |
|
---|---|---|---|---|---|
Benign
(Aug 10, 2015)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244384.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000495 (less)
|
|
Benign
(Mar 30, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699204.1
First in ClinVar: Mar 17, 2018 Last updated: Mar 17, 2018 |
Comment:
Variant Summary: The BRCA1 c.5117G>C variant involves the alteration of a conserved nucleotide, resulting in an amino acid change from a Gly to an Ala … (more)
Variant Summary: The BRCA1 c.5117G>C variant involves the alteration of a conserved nucleotide, resulting in an amino acid change from a Gly to an Ala at codon 1706. G1706 is a highly conserved residue located at the interface between the two BRCT domains, which forms the binding pocket for the peptide and functional studies have shown G1706A may be mildly destablizing (Lee_CR_2010); however, this finding was in contrast to Lovelock et al 2006, showing no change in stability. Regardless, the implications of this possible reduction in protein stability in cancer are not known. 4/5 in-silico tools predict a pathogenic outcome. Contrary to in silico and the conflicting stability assay results, multiple other functional assays from independent labs show the variant to have similar activity compared to WT, including, subcellular localization, transcriptional transactivation, centrosome amplification, binding activity, as well as splicing/transcription analysis via patient mRNA (Lovelock_2006, Campos_2003, Lee_CR_2010).The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.004% which does not exceed the maximal expected allele frequency for a pathogenic variant in BRCA1 (0.10%). The variant has been reported in the literature in affected individuals, without strong evidence for causality (i.e. co-segregation with disease). The variant has been reported in databases and publications to co-occur in patients with pathogenic variants including 3 patients who also carry BRCA1 c.3049G>T (p.Glu1017X; UMD), 1 patient with BRCA2 c.IVS2+2T>C (c.67+2T>C; UMD), 1 patient with BRCA2 c.51_52delAC (p.Arg18LeufsX12; UMD) and 1 patient with BRCA1 c.5263insC (p.Gln1756fs; Carraro_2013). Additionally, the variant was reported to not segregate with disease in multiple pedigrees, including one family with one affected individual without the variant as well as a second family with two unaffected variant carriers (ages 70 and 90; Lovelock_2006). In another family, the affected proband was positive for the variant, but the variant was not inherited from the cancer affected maternal side of the family (fathers side had no cancer history; Lovelock_2006). Furthermore, multiple reputable clinical labs have classified the variant as likely benign/benign. Therefore, due to the lack of co-segregation of the variant with disease, the co-occurrence of the variant with pathogenic variants in multiple patients, and functional assays showing similar activity to WT BRCA1, this variant has been classified as a benign variant. (less)
|
|
Benign
(May 31, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744599.1 First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
|
|
Likely benign
(Oct 13, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000336439.4
First in ClinVar: Dec 06, 2016 Last updated: Apr 09, 2018 |
Number of individuals with the variant: 1
Sex: mixed
|
|
Likely benign
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001140486.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
|
|
Likely benign
(Oct 05, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000209984.13
First in ClinVar: Feb 24, 2015 Last updated: Apr 09, 2018 |
Comment:
This variant is associated with the following publications: (PMID: 17305420, 15689452, 20378548, 24916970, 21990134, 15923272, 30209399, 23683081, 12955716, 12601471, 23469205, 21702907, 21447777, 23479189, 23289006, 25782689, … (more)
This variant is associated with the following publications: (PMID: 17305420, 15689452, 20378548, 24916970, 21990134, 15923272, 30209399, 23683081, 12955716, 12601471, 23469205, 21702907, 21447777, 23479189, 23289006, 25782689, 15235020, 23867111, 25814778, 27495310, 26997744, 18645608, 20516115, 30145549, 30263132, 28781887, 30765603, 33087888) (less)
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Benign
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000887715.3
First in ClinVar: Mar 17, 2018 Last updated: Jan 03, 2022 |
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Likely benign
(Nov 01, 2021)
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criteria provided, single submitter
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Genetics Program, Instituto Nacional de Cancer
Accession: SCV002515225.1
First in ClinVar: Nov 19, 2022 Last updated: Nov 19, 2022 |
Geographic origin: Brazil
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Likely benign
(Jan 18, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002537812.1
First in ClinVar: Mar 25, 2020 Last updated: Mar 25, 2020 |
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Likely benign
(Jun 20, 2016)
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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
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683254.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
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Likely benign
(Mar 23, 2014)
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criteria provided, single submitter
Method: literature only
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Breast-ovarian cancer, familial 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000154029.2
First in ClinVar: Jun 09, 2014 Last updated: Dec 24, 2022 |
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Benign
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004026754.1
First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023 |
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Benign
(Jan 25, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000076814.13
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
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Likely Benign
(Feb 05, 2024)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004817588.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Number of individuals with the variant: 16
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Benign
(Nov 18, 2014)
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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
|
Ambry Genetics
Accession: SCV000213479.6
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
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Uncertain significance
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145319.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 4
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Spain
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
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Likely benign
(Aug 16, 2012)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000109401.4
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
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Benign
(Nov 06, 2014)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: unknown
Allele origin:
germline
|
Pathway Genomics
Accession: SCV000207337.1
First in ClinVar: Feb 06, 2015 Last updated: Feb 06, 2015 |
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Likely benign
(May 01, 2016)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: no
Allele origin:
germline
|
Department of Medical Genetics, University Hospital of North Norway
Accession: SCV000301437.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Number of individuals with the variant: 1
|
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591582.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Gly1706Ala variant has been reported in the literature in 11/1788 proband chromosomes from individuals with hereditary breast and ovarian cancer (Abkevich 2004, Bonatti … (more)
The BRCA1 p.Gly1706Ala variant has been reported in the literature in 11/1788 proband chromosomes from individuals with hereditary breast and ovarian cancer (Abkevich 2004, Bonatti 2006, Campos 2003, Filippini 2007, Hondow 2011, Lee 2010, Lovelock 2006, Mirkovic 2004, Phelan 2005, Williams 2003) and was not identified in 1100 control chromosomes from healthy individuals (Campos 2003, Phelan 2005). The variant was also identified in dbSNP (ID: rs80356860) with a minor allele frequency of 0.0002 (1000 Genomes Project), LOVD, the ClinVar database (classified as a Likely Benign variant by the Sharing Clinical Reports Project, derived from Myriad reports), the BIC database (6X with unknown clinical importance), and UMD (28X as a UV variant). The variant was also identified by the Exome Variant Server project in 1 of 8600 European American alleles (frequency: 0.0001), although this low number of observations and low frequency is not substantive enough to determine the prevalence of the variant in the general population and its relationship to disease.In the UMD database, this variant has been identified in three individuals with a second pathogenic BRCA1 and BRCA2 variants (c.3049G>T (p.Glu1017X) ; c.IVS2+2T>C (c.67+2T>C), thereby increasing the likelihood that this variant does not have clinical significance. The p.Gly1706 residue is conserved across mammals and lower organisms, and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the p.Gly1706 variant may impact the protein. However, this information is not predictive enough to assume pathogenicity. In addition, several functional assays that examined the variant's protein stability, transcriptional transactivation, and subcellular localization predict this variant to be nonpathogenic (Lee 2010, Lovelock 2006, Williams 2003). In summary, the clinical significance of this variant cannot be determined with certainty at this time, although we would lean towards a more benign role for this variant. This variant is classified as Predicted Benign. (less)
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001906431.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001959794.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002036606.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
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not provided
(-)
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no classification provided
Method: in vitro
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Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
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Brotman Baty Institute, University of Washington
Accession: SCV001243571.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.0514299101353102
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Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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functionally_normal
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Method citation(s):
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Brotman Baty Institute, University of Washington
Accession: SCV001243571.1
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Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5117G>C, a MISSENSE variant, produced a function score of -0.05, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5117G>C, a MISSENSE variant, produced a function score of -0.05, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service. | Matta BP | Scientific reports | 2022 | PMID: 36329109 |
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. | Jarhelle E | Familial cancer | 2017 | PMID: 27495310 |
Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer. | Henouda S | Disease markers | 2016 | PMID: 26997744 |
BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African. | Laraqui A | Disease markers | 2015 | PMID: 25814778 |
A high-throughput functional complementation assay for classification of BRCA1 missense variants. | Bouwman P | Cancer discovery | 2013 | PMID: 23867111 |
Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). | Blay P | BMC cancer | 2013 | PMID: 23683081 |
Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil. | Carraro DM | PloS one | 2013 | PMID: 23469205 |
Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population. | Laraqui A | International journal of medical sciences | 2013 | PMID: 23289006 |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population. | de Juan Jiménez I | Familial cancer | 2012 | PMID: 21918853 |
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. | Hondow HL | BMC cancer | 2011 | PMID: 21702907 |
A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. | Iversen ES Jr | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2011 | PMID: 21447777 |
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. | Lee MS | Cancer research | 2010 | PMID: 20516115 |
Toward classification of BRCA1 missense variants using a biophysical approach. | Rowling PJ | The Journal of biological chemistry | 2010 | PMID: 20378548 |
Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia. | Troudi W | Journal of human genetics | 2007 | PMID: 17922257 |
Functional impact of missense variants in BRCA1 predicted by supervised learning. | Karchin R | PLoS computational biology | 2007 | PMID: 17305420 |
RNA-based analysis of BRCA1 and BRCA2 gene alterations. | Bonatti F | Cancer genetics and cytogenetics | 2006 | PMID: 17011978 |
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. | Lovelock PK | Journal of medical genetics | 2006 | PMID: 15923272 |
Classification of BRCA1 missense variants of unknown clinical significance. | Phelan CM | Journal of medical genetics | 2005 | PMID: 15689452 |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V | Journal of medical genetics | 2004 | PMID: 15235020 |
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. | Mirkovic N | Cancer research | 2004 | PMID: 15172985 |
RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain. | Campos B | Human mutation | 2003 | PMID: 12955719 |
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. | Díez O | Human mutation | 2003 | PMID: 12955716 |
Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics. | Scott CL | Human genetics | 2003 | PMID: 12601471 |
http://hci-exlovd.hci.utah.edu/variants.php?select_db=BRCA1&action=search_all&search_Variant%2FDNA=c.5117G%3EC | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA1 | - | - | - | - |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
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Text-mined citations for rs80356860 ...
HelpRecord last updated May 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.