ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5054C>A (p.Thr1685Asn)
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.5054C>A (p.Thr1685Asn)
Variation ID: 864885 Accession: VCV000864885.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43067628 (GRCh38) [ NCBI UCSC ] 17: 41219645 (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 18, 2020 Apr 18, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5054C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1685Asn missense NM_001407571.1:c.4841C>A NP_001394500.1:p.Thr1614Asn missense NM_001407581.1:c.5120C>A NP_001394510.1:p.Thr1707Asn missense NM_001407582.1:c.5120C>A NP_001394511.1:p.Thr1707Asn missense NM_001407583.1:c.5117C>A NP_001394512.1:p.Thr1706Asn missense NM_001407585.1:c.5117C>A NP_001394514.1:p.Thr1706Asn missense NM_001407587.1:c.5117C>A NP_001394516.1:p.Thr1706Asn missense NM_001407590.1:c.5114C>A NP_001394519.1:p.Thr1705Asn missense NM_001407591.1:c.5114C>A NP_001394520.1:p.Thr1705Asn missense NM_001407593.1:c.5054C>A NP_001394522.1:p.Thr1685Asn missense NM_001407594.1:c.5054C>A NP_001394523.1:p.Thr1685Asn missense NM_001407596.1:c.5054C>A NP_001394525.1:p.Thr1685Asn missense NM_001407597.1:c.5054C>A NP_001394526.1:p.Thr1685Asn missense NM_001407598.1:c.5054C>A NP_001394527.1:p.Thr1685Asn missense NM_001407602.1:c.5054C>A NP_001394531.1:p.Thr1685Asn missense NM_001407603.1:c.5054C>A NP_001394532.1:p.Thr1685Asn missense NM_001407605.1:c.5054C>A NP_001394534.1:p.Thr1685Asn missense NM_001407610.1:c.5051C>A NP_001394539.1:p.Thr1684Asn missense NM_001407611.1:c.5051C>A NP_001394540.1:p.Thr1684Asn missense NM_001407612.1:c.5051C>A NP_001394541.1:p.Thr1684Asn missense NM_001407613.1:c.5051C>A NP_001394542.1:p.Thr1684Asn missense NM_001407614.1:c.5051C>A NP_001394543.1:p.Thr1684Asn missense NM_001407615.1:c.5051C>A NP_001394544.1:p.Thr1684Asn missense NM_001407616.1:c.5051C>A NP_001394545.1:p.Thr1684Asn missense NM_001407617.1:c.5051C>A NP_001394546.1:p.Thr1684Asn missense NM_001407618.1:c.5051C>A NP_001394547.1:p.Thr1684Asn missense NM_001407619.1:c.5051C>A NP_001394548.1:p.Thr1684Asn missense NM_001407620.1:c.5051C>A NP_001394549.1:p.Thr1684Asn missense NM_001407621.1:c.5051C>A NP_001394550.1:p.Thr1684Asn missense NM_001407622.1:c.5051C>A NP_001394551.1:p.Thr1684Asn missense NM_001407623.1:c.5051C>A NP_001394552.1:p.Thr1684Asn missense NM_001407624.1:c.5051C>A NP_001394553.1:p.Thr1684Asn missense NM_001407625.1:c.5051C>A NP_001394554.1:p.Thr1684Asn missense NM_001407626.1:c.5051C>A NP_001394555.1:p.Thr1684Asn missense NM_001407627.1:c.5048C>A NP_001394556.1:p.Thr1683Asn missense NM_001407628.1:c.5048C>A NP_001394557.1:p.Thr1683Asn missense NM_001407629.1:c.5048C>A NP_001394558.1:p.Thr1683Asn missense NM_001407630.1:c.5048C>A NP_001394559.1:p.Thr1683Asn missense NM_001407631.1:c.5048C>A NP_001394560.1:p.Thr1683Asn missense NM_001407632.1:c.5048C>A NP_001394561.1:p.Thr1683Asn missense NM_001407633.1:c.5048C>A NP_001394562.1:p.Thr1683Asn missense NM_001407634.1:c.5048C>A NP_001394563.1:p.Thr1683Asn missense NM_001407635.1:c.5048C>A NP_001394564.1:p.Thr1683Asn missense NM_001407636.1:c.5048C>A NP_001394565.1:p.Thr1683Asn missense NM_001407637.1:c.5048C>A NP_001394566.1:p.Thr1683Asn missense NM_001407638.1:c.5048C>A NP_001394567.1:p.Thr1683Asn missense NM_001407639.1:c.5048C>A NP_001394568.1:p.Thr1683Asn missense NM_001407640.1:c.5048C>A NP_001394569.1:p.Thr1683Asn missense NM_001407641.1:c.5048C>A NP_001394570.1:p.Thr1683Asn missense NM_001407642.1:c.5048C>A NP_001394571.1:p.Thr1683Asn missense NM_001407644.1:c.5045C>A NP_001394573.1:p.Thr1682Asn missense NM_001407645.1:c.5045C>A NP_001394574.1:p.Thr1682Asn missense NM_001407646.1:c.5042C>A NP_001394575.1:p.Thr1681Asn missense NM_001407647.1:c.5039C>A NP_001394576.1:p.Thr1680Asn missense NM_001407648.1:c.4997C>A NP_001394577.1:p.Thr1666Asn missense NM_001407649.1:c.4994C>A NP_001394578.1:p.Thr1665Asn missense NM_001407652.1:c.5054C>A NP_001394581.1:p.Thr1685Asn missense NM_001407653.1:c.4976C>A NP_001394582.1:p.Thr1659Asn missense NM_001407654.1:c.4976C>A NP_001394583.1:p.Thr1659Asn missense NM_001407655.1:c.4976C>A NP_001394584.1:p.Thr1659Asn missense NM_001407656.1:c.4973C>A NP_001394585.1:p.Thr1658Asn missense NM_001407657.1:c.4973C>A NP_001394586.1:p.Thr1658Asn missense NM_001407658.1:c.4973C>A NP_001394587.1:p.Thr1658Asn missense NM_001407659.1:c.4970C>A NP_001394588.1:p.Thr1657Asn missense NM_001407660.1:c.4970C>A NP_001394589.1:p.Thr1657Asn missense NM_001407661.1:c.4970C>A NP_001394590.1:p.Thr1657Asn missense NM_001407662.1:c.4970C>A NP_001394591.1:p.Thr1657Asn missense NM_001407663.1:c.4970C>A NP_001394592.1:p.Thr1657Asn missense NM_001407664.1:c.4931C>A NP_001394593.1:p.Thr1644Asn missense NM_001407665.1:c.4931C>A NP_001394594.1:p.Thr1644Asn missense NM_001407666.1:c.4931C>A NP_001394595.1:p.Thr1644Asn missense NM_001407667.1:c.4931C>A NP_001394596.1:p.Thr1644Asn missense NM_001407668.1:c.4931C>A NP_001394597.1:p.Thr1644Asn missense NM_001407669.1:c.4931C>A NP_001394598.1:p.Thr1644Asn missense NM_001407670.1:c.4928C>A NP_001394599.1:p.Thr1643Asn missense NM_001407671.1:c.4928C>A NP_001394600.1:p.Thr1643Asn missense NM_001407672.1:c.4928C>A NP_001394601.1:p.Thr1643Asn missense NM_001407673.1:c.4928C>A NP_001394602.1:p.Thr1643Asn missense NM_001407674.1:c.4928C>A NP_001394603.1:p.Thr1643Asn missense NM_001407675.1:c.4928C>A NP_001394604.1:p.Thr1643Asn missense NM_001407676.1:c.4928C>A NP_001394605.1:p.Thr1643Asn missense NM_001407677.1:c.4928C>A NP_001394606.1:p.Thr1643Asn missense NM_001407678.1:c.4928C>A NP_001394607.1:p.Thr1643Asn missense NM_001407679.1:c.4928C>A NP_001394608.1:p.Thr1643Asn missense NM_001407680.1:c.4928C>A NP_001394609.1:p.Thr1643Asn missense NM_001407681.1:c.4925C>A NP_001394610.1:p.Thr1642Asn missense NM_001407682.1:c.4925C>A NP_001394611.1:p.Thr1642Asn missense NM_001407683.1:c.4925C>A NP_001394612.1:p.Thr1642Asn missense NM_001407684.1:c.5054C>A NP_001394613.1:p.Thr1685Asn missense NM_001407685.1:c.4925C>A NP_001394614.1:p.Thr1642Asn missense NM_001407686.1:c.4925C>A NP_001394615.1:p.Thr1642Asn missense NM_001407687.1:c.4925C>A NP_001394616.1:p.Thr1642Asn missense NM_001407688.1:c.4925C>A NP_001394617.1:p.Thr1642Asn missense NM_001407689.1:c.4925C>A NP_001394618.1:p.Thr1642Asn missense NM_001407690.1:c.4922C>A NP_001394619.1:p.Thr1641Asn missense NM_001407691.1:c.4922C>A NP_001394620.1:p.Thr1641Asn missense NM_001407692.1:c.4913C>A NP_001394621.1:p.Thr1638Asn missense NM_001407694.1:c.4913C>A NP_001394623.1:p.Thr1638Asn missense NM_001407695.1:c.4913C>A NP_001394624.1:p.Thr1638Asn missense NM_001407696.1:c.4913C>A NP_001394625.1:p.Thr1638Asn missense NM_001407697.1:c.4913C>A NP_001394626.1:p.Thr1638Asn missense NM_001407698.1:c.4913C>A NP_001394627.1:p.Thr1638Asn missense NM_001407724.1:c.4913C>A NP_001394653.1:p.Thr1638Asn missense NM_001407725.1:c.4913C>A NP_001394654.1:p.Thr1638Asn missense NM_001407726.1:c.4913C>A NP_001394655.1:p.Thr1638Asn missense NM_001407727.1:c.4913C>A NP_001394656.1:p.Thr1638Asn missense NM_001407728.1:c.4913C>A NP_001394657.1:p.Thr1638Asn missense NM_001407729.1:c.4913C>A NP_001394658.1:p.Thr1638Asn missense NM_001407730.1:c.4913C>A NP_001394659.1:p.Thr1638Asn missense NM_001407731.1:c.4913C>A NP_001394660.1:p.Thr1638Asn missense NM_001407732.1:c.4910C>A NP_001394661.1:p.Thr1637Asn missense NM_001407733.1:c.4910C>A NP_001394662.1:p.Thr1637Asn missense NM_001407734.1:c.4910C>A NP_001394663.1:p.Thr1637Asn missense NM_001407735.1:c.4910C>A NP_001394664.1:p.Thr1637Asn missense NM_001407736.1:c.4910C>A NP_001394665.1:p.Thr1637Asn missense NM_001407737.1:c.4910C>A NP_001394666.1:p.Thr1637Asn missense NM_001407738.1:c.4910C>A NP_001394667.1:p.Thr1637Asn missense NM_001407739.1:c.4910C>A NP_001394668.1:p.Thr1637Asn missense NM_001407740.1:c.4910C>A NP_001394669.1:p.Thr1637Asn missense NM_001407741.1:c.4910C>A NP_001394670.1:p.Thr1637Asn missense NM_001407742.1:c.4910C>A NP_001394671.1:p.Thr1637Asn missense NM_001407743.1:c.4910C>A NP_001394672.1:p.Thr1637Asn missense NM_001407744.1:c.4910C>A NP_001394673.1:p.Thr1637Asn missense NM_001407745.1:c.4910C>A NP_001394674.1:p.Thr1637Asn missense NM_001407746.1:c.4910C>A NP_001394675.1:p.Thr1637Asn missense NM_001407747.1:c.4910C>A NP_001394676.1:p.Thr1637Asn missense NM_001407748.1:c.4910C>A NP_001394677.1:p.Thr1637Asn missense NM_001407749.1:c.4910C>A NP_001394678.1:p.Thr1637Asn missense NM_001407750.1:c.4910C>A NP_001394679.1:p.Thr1637Asn missense NM_001407751.1:c.4910C>A NP_001394680.1:p.Thr1637Asn missense NM_001407752.1:c.4910C>A NP_001394681.1:p.Thr1637Asn missense NM_001407838.1:c.4907C>A NP_001394767.1:p.Thr1636Asn missense NM_001407839.1:c.4907C>A NP_001394768.1:p.Thr1636Asn missense NM_001407841.1:c.4907C>A NP_001394770.1:p.Thr1636Asn missense NM_001407842.1:c.4907C>A NP_001394771.1:p.Thr1636Asn missense NM_001407843.1:c.4907C>A NP_001394772.1:p.Thr1636Asn missense NM_001407844.1:c.4907C>A NP_001394773.1:p.Thr1636Asn missense NM_001407845.1:c.4907C>A NP_001394774.1:p.Thr1636Asn missense NM_001407846.1:c.4907C>A NP_001394775.1:p.Thr1636Asn missense NM_001407847.1:c.4907C>A NP_001394776.1:p.Thr1636Asn missense NM_001407848.1:c.4907C>A NP_001394777.1:p.Thr1636Asn missense NM_001407849.1:c.4907C>A NP_001394778.1:p.Thr1636Asn missense NM_001407850.1:c.4907C>A NP_001394779.1:p.Thr1636Asn missense NM_001407851.1:c.4907C>A NP_001394780.1:p.Thr1636Asn missense NM_001407852.1:c.4907C>A NP_001394781.1:p.Thr1636Asn missense NM_001407853.1:c.4907C>A NP_001394782.1:p.Thr1636Asn missense NM_001407854.1:c.5054C>A NP_001394783.1:p.Thr1685Asn missense NM_001407858.1:c.5051C>A NP_001394787.1:p.Thr1684Asn missense NM_001407859.1:c.5051C>A NP_001394788.1:p.Thr1684Asn missense NM_001407860.1:c.5051C>A NP_001394789.1:p.Thr1684Asn missense NM_001407861.1:c.5048C>A NP_001394790.1:p.Thr1683Asn missense NM_001407862.1:c.4853C>A NP_001394791.1:p.Thr1618Asn missense NM_001407863.1:c.4928C>A NP_001394792.1:p.Thr1643Asn missense NM_001407874.1:c.4847C>A NP_001394803.1:p.Thr1616Asn missense NM_001407875.1:c.4847C>A NP_001394804.1:p.Thr1616Asn missense NM_001407879.1:c.4844C>A NP_001394808.1:p.Thr1615Asn missense NM_001407881.1:c.4844C>A NP_001394810.1:p.Thr1615Asn missense NM_001407882.1:c.4844C>A NP_001394811.1:p.Thr1615Asn missense NM_001407884.1:c.4844C>A NP_001394813.1:p.Thr1615Asn missense NM_001407885.1:c.4844C>A NP_001394814.1:p.Thr1615Asn missense NM_001407886.1:c.4844C>A NP_001394815.1:p.Thr1615Asn missense NM_001407887.1:c.4844C>A NP_001394816.1:p.Thr1615Asn missense NM_001407889.1:c.4844C>A NP_001394818.1:p.Thr1615Asn missense NM_001407894.1:c.4841C>A NP_001394823.1:p.Thr1614Asn missense NM_001407895.1:c.4841C>A NP_001394824.1:p.Thr1614Asn missense NM_001407896.1:c.4841C>A NP_001394825.1:p.Thr1614Asn missense NM_001407897.1:c.4841C>A NP_001394826.1:p.Thr1614Asn missense NM_001407898.1:c.4841C>A NP_001394827.1:p.Thr1614Asn missense NM_001407899.1:c.4841C>A NP_001394828.1:p.Thr1614Asn missense NM_001407900.1:c.4841C>A NP_001394829.1:p.Thr1614Asn missense NM_001407902.1:c.4841C>A NP_001394831.1:p.Thr1614Asn missense NM_001407904.1:c.4841C>A NP_001394833.1:p.Thr1614Asn missense NM_001407906.1:c.4841C>A NP_001394835.1:p.Thr1614Asn missense NM_001407907.1:c.4841C>A NP_001394836.1:p.Thr1614Asn missense NM_001407908.1:c.4841C>A NP_001394837.1:p.Thr1614Asn missense NM_001407909.1:c.4841C>A NP_001394838.1:p.Thr1614Asn missense NM_001407910.1:c.4841C>A NP_001394839.1:p.Thr1614Asn missense NM_001407915.1:c.4838C>A NP_001394844.1:p.Thr1613Asn missense NM_001407916.1:c.4838C>A NP_001394845.1:p.Thr1613Asn missense NM_001407917.1:c.4838C>A NP_001394846.1:p.Thr1613Asn missense NM_001407918.1:c.4838C>A NP_001394847.1:p.Thr1613Asn missense NM_001407919.1:c.4931C>A NP_001394848.1:p.Thr1644Asn missense NM_001407920.1:c.4790C>A NP_001394849.1:p.Thr1597Asn missense NM_001407921.1:c.4790C>A NP_001394850.1:p.Thr1597Asn missense NM_001407922.1:c.4790C>A NP_001394851.1:p.Thr1597Asn missense NM_001407923.1:c.4790C>A NP_001394852.1:p.Thr1597Asn missense NM_001407924.1:c.4790C>A NP_001394853.1:p.Thr1597Asn missense NM_001407925.1:c.4790C>A NP_001394854.1:p.Thr1597Asn missense NM_001407926.1:c.4790C>A NP_001394855.1:p.Thr1597Asn missense NM_001407927.1:c.4787C>A NP_001394856.1:p.Thr1596Asn missense NM_001407928.1:c.4787C>A NP_001394857.1:p.Thr1596Asn missense NM_001407929.1:c.4787C>A NP_001394858.1:p.Thr1596Asn missense NM_001407930.1:c.4787C>A NP_001394859.1:p.Thr1596Asn missense NM_001407931.1:c.4787C>A NP_001394860.1:p.Thr1596Asn missense NM_001407932.1:c.4787C>A NP_001394861.1:p.Thr1596Asn missense NM_001407933.1:c.4787C>A NP_001394862.1:p.Thr1596Asn missense NM_001407934.1:c.4784C>A NP_001394863.1:p.Thr1595Asn missense NM_001407935.1:c.4784C>A NP_001394864.1:p.Thr1595Asn missense NM_001407936.1:c.4784C>A NP_001394865.1:p.Thr1595Asn missense NM_001407937.1:c.4931C>A NP_001394866.1:p.Thr1644Asn missense NM_001407938.1:c.4931C>A NP_001394867.1:p.Thr1644Asn missense NM_001407939.1:c.4928C>A NP_001394868.1:p.Thr1643Asn missense NM_001407940.1:c.4928C>A NP_001394869.1:p.Thr1643Asn missense NM_001407941.1:c.4925C>A NP_001394870.1:p.Thr1642Asn missense NM_001407942.1:c.4913C>A NP_001394871.1:p.Thr1638Asn missense NM_001407943.1:c.4910C>A NP_001394872.1:p.Thr1637Asn missense NM_001407944.1:c.4910C>A NP_001394873.1:p.Thr1637Asn missense NM_001407945.1:c.4910C>A NP_001394874.1:p.Thr1637Asn missense NM_001407946.1:c.4721C>A NP_001394875.1:p.Thr1574Asn missense NM_001407947.1:c.4721C>A NP_001394876.1:p.Thr1574Asn missense NM_001407948.1:c.4721C>A NP_001394877.1:p.Thr1574Asn missense NM_001407949.1:c.4721C>A NP_001394878.1:p.Thr1574Asn missense NM_001407950.1:c.4718C>A NP_001394879.1:p.Thr1573Asn missense NM_001407951.1:c.4718C>A NP_001394880.1:p.Thr1573Asn missense NM_001407952.1:c.4718C>A NP_001394881.1:p.Thr1573Asn missense NM_001407953.1:c.4718C>A NP_001394882.1:p.Thr1573Asn missense NM_001407954.1:c.4718C>A NP_001394883.1:p.Thr1573Asn missense NM_001407955.1:c.4718C>A NP_001394884.1:p.Thr1573Asn missense NM_001407956.1:c.4715C>A NP_001394885.1:p.Thr1572Asn missense NM_001407957.1:c.4715C>A NP_001394886.1:p.Thr1572Asn missense NM_001407958.1:c.4715C>A NP_001394887.1:p.Thr1572Asn missense NM_001407959.1:c.4673C>A NP_001394888.1:p.Thr1558Asn missense NM_001407960.1:c.4670C>A NP_001394889.1:p.Thr1557Asn missense NM_001407962.1:c.4670C>A NP_001394891.1:p.Thr1557Asn missense NM_001407963.1:c.4667C>A NP_001394892.1:p.Thr1556Asn missense NM_001407964.1:c.4592C>A NP_001394893.1:p.Thr1531Asn missense NM_001407965.1:c.4547C>A NP_001394894.1:p.Thr1516Asn missense NM_001407966.1:c.4166C>A NP_001394895.1:p.Thr1389Asn missense NM_001407967.1:c.4163C>A NP_001394896.1:p.Thr1388Asn missense NM_001407968.1:c.2450C>A NP_001394897.1:p.Thr817Asn missense NM_001407969.1:c.2447C>A NP_001394898.1:p.Thr816Asn missense NM_001407970.1:c.1811C>A NP_001394899.1:p.Thr604Asn missense NM_001407971.1:c.1811C>A NP_001394900.1:p.Thr604Asn missense NM_001407972.1:c.1808C>A NP_001394901.1:p.Thr603Asn missense NM_001407973.1:c.1745C>A NP_001394902.1:p.Thr582Asn missense NM_001407974.1:c.1745C>A NP_001394903.1:p.Thr582Asn missense NM_001407975.1:c.1745C>A NP_001394904.1:p.Thr582Asn missense NM_001407976.1:c.1745C>A NP_001394905.1:p.Thr582Asn missense NM_001407977.1:c.1745C>A NP_001394906.1:p.Thr582Asn missense NM_001407978.1:c.1745C>A NP_001394907.1:p.Thr582Asn missense NM_001407979.1:c.1742C>A NP_001394908.1:p.Thr581Asn missense NM_001407980.1:c.1742C>A NP_001394909.1:p.Thr581Asn missense NM_001407981.1:c.1742C>A NP_001394910.1:p.Thr581Asn missense NM_001407982.1:c.1742C>A NP_001394911.1:p.Thr581Asn missense NM_001407983.1:c.1742C>A NP_001394912.1:p.Thr581Asn missense NM_001407984.1:c.1742C>A NP_001394913.1:p.Thr581Asn missense NM_001407985.1:c.1742C>A NP_001394914.1:p.Thr581Asn missense NM_001407986.1:c.1742C>A NP_001394915.1:p.Thr581Asn missense NM_001407990.1:c.1742C>A NP_001394919.1:p.Thr581Asn missense NM_001407991.1:c.1742C>A NP_001394920.1:p.Thr581Asn missense NM_001407992.1:c.1742C>A NP_001394921.1:p.Thr581Asn missense NM_001407993.1:c.1742C>A NP_001394922.1:p.Thr581Asn missense NM_001408392.1:c.1739C>A NP_001395321.1:p.Thr580Asn missense NM_001408396.1:c.1739C>A NP_001395325.1:p.Thr580Asn missense NM_001408397.1:c.1739C>A NP_001395326.1:p.Thr580Asn missense NM_001408398.1:c.1739C>A NP_001395327.1:p.Thr580Asn missense NM_001408399.1:c.1739C>A NP_001395328.1:p.Thr580Asn missense NM_001408400.1:c.1739C>A NP_001395329.1:p.Thr580Asn missense NM_001408401.1:c.1739C>A NP_001395330.1:p.Thr580Asn missense NM_001408402.1:c.1739C>A NP_001395331.1:p.Thr580Asn missense NM_001408403.1:c.1739C>A NP_001395332.1:p.Thr580Asn missense NM_001408404.1:c.1739C>A NP_001395333.1:p.Thr580Asn missense NM_001408406.1:c.1736C>A NP_001395335.1:p.Thr579Asn missense NM_001408407.1:c.1736C>A NP_001395336.1:p.Thr579Asn missense NM_001408408.1:c.1736C>A NP_001395337.1:p.Thr579Asn missense NM_001408409.1:c.1733C>A NP_001395338.1:p.Thr578Asn missense NM_001408410.1:c.1670C>A NP_001395339.1:p.Thr557Asn missense NM_001408411.1:c.1667C>A NP_001395340.1:p.Thr556Asn missense NM_001408412.1:c.1664C>A NP_001395341.1:p.Thr555Asn missense NM_001408413.1:c.1664C>A NP_001395342.1:p.Thr555Asn missense NM_001408414.1:c.1664C>A NP_001395343.1:p.Thr555Asn missense NM_001408415.1:c.1664C>A NP_001395344.1:p.Thr555Asn missense NM_001408416.1:c.1664C>A NP_001395345.1:p.Thr555Asn missense NM_001408418.1:c.1628C>A NP_001395347.1:p.Thr543Asn missense NM_001408419.1:c.1628C>A NP_001395348.1:p.Thr543Asn missense NM_001408420.1:c.1628C>A NP_001395349.1:p.Thr543Asn missense NM_001408421.1:c.1625C>A NP_001395350.1:p.Thr542Asn missense NM_001408422.1:c.1625C>A NP_001395351.1:p.Thr542Asn missense NM_001408423.1:c.1625C>A NP_001395352.1:p.Thr542Asn missense NM_001408424.1:c.1625C>A NP_001395353.1:p.Thr542Asn missense NM_001408425.1:c.1622C>A NP_001395354.1:p.Thr541Asn missense NM_001408426.1:c.1622C>A NP_001395355.1:p.Thr541Asn missense NM_001408427.1:c.1622C>A NP_001395356.1:p.Thr541Asn missense NM_001408428.1:c.1622C>A NP_001395357.1:p.Thr541Asn missense NM_001408429.1:c.1622C>A NP_001395358.1:p.Thr541Asn missense NM_001408430.1:c.1622C>A NP_001395359.1:p.Thr541Asn missense NM_001408431.1:c.1622C>A NP_001395360.1:p.Thr541Asn missense NM_001408432.1:c.1619C>A NP_001395361.1:p.Thr540Asn missense NM_001408433.1:c.1619C>A NP_001395362.1:p.Thr540Asn missense NM_001408434.1:c.1619C>A NP_001395363.1:p.Thr540Asn missense NM_001408435.1:c.1619C>A NP_001395364.1:p.Thr540Asn missense NM_001408436.1:c.1619C>A NP_001395365.1:p.Thr540Asn missense NM_001408437.1:c.1619C>A NP_001395366.1:p.Thr540Asn missense NM_001408438.1:c.1619C>A NP_001395367.1:p.Thr540Asn missense NM_001408439.1:c.1619C>A NP_001395368.1:p.Thr540Asn missense NM_001408440.1:c.1619C>A NP_001395369.1:p.Thr540Asn missense NM_001408441.1:c.1619C>A NP_001395370.1:p.Thr540Asn missense NM_001408442.1:c.1619C>A NP_001395371.1:p.Thr540Asn missense NM_001408443.1:c.1619C>A NP_001395372.1:p.Thr540Asn missense NM_001408444.1:c.1619C>A NP_001395373.1:p.Thr540Asn missense NM_001408445.1:c.1616C>A NP_001395374.1:p.Thr539Asn missense NM_001408446.1:c.1616C>A NP_001395375.1:p.Thr539Asn missense NM_001408447.1:c.1616C>A NP_001395376.1:p.Thr539Asn missense NM_001408448.1:c.1616C>A NP_001395377.1:p.Thr539Asn missense NM_001408450.1:c.1616C>A NP_001395379.1:p.Thr539Asn missense NM_001408451.1:c.1610C>A NP_001395380.1:p.Thr537Asn missense NM_001408452.1:c.1604C>A NP_001395381.1:p.Thr535Asn missense NM_001408453.1:c.1604C>A NP_001395382.1:p.Thr535Asn missense NM_001408454.1:c.1604C>A NP_001395383.1:p.Thr535Asn missense NM_001408455.1:c.1604C>A NP_001395384.1:p.Thr535Asn missense NM_001408456.1:c.1604C>A NP_001395385.1:p.Thr535Asn missense NM_001408457.1:c.1604C>A NP_001395386.1:p.Thr535Asn missense NM_001408458.1:c.1601C>A NP_001395387.1:p.Thr534Asn missense NM_001408459.1:c.1601C>A NP_001395388.1:p.Thr534Asn missense NM_001408460.1:c.1601C>A NP_001395389.1:p.Thr534Asn missense NM_001408461.1:c.1601C>A NP_001395390.1:p.Thr534Asn missense NM_001408462.1:c.1601C>A NP_001395391.1:p.Thr534Asn missense NM_001408463.1:c.1601C>A NP_001395392.1:p.Thr534Asn missense NM_001408464.1:c.1601C>A NP_001395393.1:p.Thr534Asn missense NM_001408465.1:c.1601C>A NP_001395394.1:p.Thr534Asn missense NM_001408466.1:c.1601C>A NP_001395395.1:p.Thr534Asn missense NM_001408467.1:c.1601C>A NP_001395396.1:p.Thr534Asn missense NM_001408468.1:c.1598C>A NP_001395397.1:p.Thr533Asn missense NM_001408469.1:c.1598C>A NP_001395398.1:p.Thr533Asn missense NM_001408470.1:c.1598C>A NP_001395399.1:p.Thr533Asn missense NM_001408472.1:c.1742C>A NP_001395401.1:p.Thr581Asn missense NM_001408473.1:c.1739C>A NP_001395402.1:p.Thr580Asn missense NM_001408474.1:c.1544C>A NP_001395403.1:p.Thr515Asn missense NM_001408475.1:c.1541C>A NP_001395404.1:p.Thr514Asn missense NM_001408476.1:c.1541C>A NP_001395405.1:p.Thr514Asn missense NM_001408478.1:c.1535C>A NP_001395407.1:p.Thr512Asn missense NM_001408479.1:c.1535C>A NP_001395408.1:p.Thr512Asn missense NM_001408480.1:c.1535C>A NP_001395409.1:p.Thr512Asn missense NM_001408481.1:c.1532C>A NP_001395410.1:p.Thr511Asn missense NM_001408482.1:c.1532C>A NP_001395411.1:p.Thr511Asn missense NM_001408483.1:c.1532C>A NP_001395412.1:p.Thr511Asn missense NM_001408484.1:c.1532C>A NP_001395413.1:p.Thr511Asn missense NM_001408485.1:c.1532C>A NP_001395414.1:p.Thr511Asn missense NM_001408489.1:c.1532C>A NP_001395418.1:p.Thr511Asn missense NM_001408490.1:c.1532C>A NP_001395419.1:p.Thr511Asn missense NM_001408491.1:c.1532C>A NP_001395420.1:p.Thr511Asn missense NM_001408492.1:c.1529C>A NP_001395421.1:p.Thr510Asn missense NM_001408493.1:c.1529C>A NP_001395422.1:p.Thr510Asn missense NM_001408494.1:c.1505C>A NP_001395423.1:p.Thr502Asn missense NM_001408495.1:c.1499C>A NP_001395424.1:p.Thr500Asn missense NM_001408496.1:c.1481C>A NP_001395425.1:p.Thr494Asn missense NM_001408497.1:c.1481C>A NP_001395426.1:p.Thr494Asn missense NM_001408498.1:c.1481C>A NP_001395427.1:p.Thr494Asn missense NM_001408499.1:c.1481C>A NP_001395428.1:p.Thr494Asn missense NM_001408500.1:c.1481C>A NP_001395429.1:p.Thr494Asn missense NM_001408501.1:c.1481C>A NP_001395430.1:p.Thr494Asn missense NM_001408502.1:c.1478C>A NP_001395431.1:p.Thr493Asn missense NM_001408503.1:c.1478C>A NP_001395432.1:p.Thr493Asn missense NM_001408504.1:c.1478C>A NP_001395433.1:p.Thr493Asn missense NM_001408505.1:c.1475C>A NP_001395434.1:p.Thr492Asn missense NM_001408506.1:c.1418C>A NP_001395435.1:p.Thr473Asn missense NM_001408507.1:c.1415C>A NP_001395436.1:p.Thr472Asn missense NM_001408508.1:c.1406C>A NP_001395437.1:p.Thr469Asn missense NM_001408509.1:c.1403C>A NP_001395438.1:p.Thr468Asn missense NM_001408510.1:c.1364C>A NP_001395439.1:p.Thr455Asn missense NM_001408511.1:c.1361C>A NP_001395440.1:p.Thr454Asn missense NM_001408512.1:c.1241C>A NP_001395441.1:p.Thr414Asn missense NM_001408513.1:c.1214C>A NP_001395442.1:p.Thr405Asn missense NM_007297.4:c.4913C>A NP_009228.2:p.Thr1638Asn missense NM_007298.4:c.1742C>A NP_009229.2:p.Thr581Asn missense NM_007299.4:c.1742C>A NP_009230.2:p.Thr581Asn missense NM_007300.4:c.5117C>A NP_009231.2:p.Thr1706Asn missense NM_007304.2:c.1742C>A NP_009235.2:p.Thr581Asn missense NR_027676.2:n.5231C>A non-coding transcript variant NC_000017.11:g.43067628G>T NC_000017.10:g.41219645G>T NG_005905.2:g.150356C>A LRG_292:g.150356C>A LRG_292t1:c.5054C>A LRG_292p1:p.Thr1685Asn - Protein change
- T1685N, T581N, T1638N, T1706N, T1388N, T1516N, T1556N, T1557N, T1614N, T1666N, T1681N, T1683N, T1684N, T1707N, T405N, T454N, T468N, T469N, T500N, T512N, T537N, T541N, T582N, T603N, T1389N, T1558N, T1573N, T1596N, T1615N, T1636N, T1637N, T1657N, T414N, T455N, T473N, T492N, T493N, T510N, T514N, T535N, T543N, T555N, T604N, T1531N, T1595N, T1597N, T1642N, T1644N, T1659N, T1665N, T1680N, T1705N, T472N, T511N, T515N, T533N, T534N, T539N, T557N, T580N, T817N, T1572N, T1574N, T1613N, T1616N, T1618N, T1641N, T1643N, T1658N, T1682N, T494N, T502N, T540N, T542N, T556N, T578N, T579N, T816N
- Other names
- -
- Canonical SPDI
- NC_000017.11:43067627:G:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_abnormal; Sequence Ontology [ SO:0002218]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5054C>A, a MISSENSE variant, produced a function score of -1.83, corresponding to a functional classification of LOSS_OF_FUNCTION. 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.
- -
-
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. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
|
- | RCV001072172.3 |
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. |
|
|---|---|---|---|---|---|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001237502.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.82716868367959
|
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. |
|---|---|---|---|---|
|
functionally_abnormal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001237502.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5054C>A, a MISSENSE variant, produced a function score of -1.83, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5054C>A, a MISSENSE variant, produced a function score of -1.83, corresponding to a functional classification of LOSS_OF_FUNCTION. 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)
|
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs80357043 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.