ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5119A>T (p.Ile1707Phe)
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.5119A>T (p.Ile1707Phe)
Variation ID: 869056 Accession: VCV000869056.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43063907 (GRCh38) [ NCBI UCSC ] 17: 41215924 (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.5119A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile1707Phe missense NM_001407571.1:c.4906A>T NP_001394500.1:p.Ile1636Phe missense NM_001407581.1:c.5185A>T NP_001394510.1:p.Ile1729Phe missense NM_001407582.1:c.5185A>T NP_001394511.1:p.Ile1729Phe missense NM_001407583.1:c.5182A>T NP_001394512.1:p.Ile1728Phe missense NM_001407585.1:c.5182A>T NP_001394514.1:p.Ile1728Phe missense NM_001407587.1:c.5182A>T NP_001394516.1:p.Ile1728Phe missense NM_001407590.1:c.5179A>T NP_001394519.1:p.Ile1727Phe missense NM_001407591.1:c.5179A>T NP_001394520.1:p.Ile1727Phe missense NM_001407593.1:c.5119A>T NP_001394522.1:p.Ile1707Phe missense NM_001407594.1:c.5119A>T NP_001394523.1:p.Ile1707Phe missense NM_001407596.1:c.5119A>T NP_001394525.1:p.Ile1707Phe missense NM_001407597.1:c.5119A>T NP_001394526.1:p.Ile1707Phe missense NM_001407598.1:c.5119A>T NP_001394527.1:p.Ile1707Phe missense NM_001407602.1:c.5119A>T NP_001394531.1:p.Ile1707Phe missense NM_001407603.1:c.5119A>T NP_001394532.1:p.Ile1707Phe missense NM_001407605.1:c.5119A>T NP_001394534.1:p.Ile1707Phe missense NM_001407610.1:c.5116A>T NP_001394539.1:p.Ile1706Phe missense NM_001407611.1:c.5116A>T NP_001394540.1:p.Ile1706Phe missense NM_001407612.1:c.5116A>T NP_001394541.1:p.Ile1706Phe missense NM_001407613.1:c.5116A>T NP_001394542.1:p.Ile1706Phe missense NM_001407614.1:c.5116A>T NP_001394543.1:p.Ile1706Phe missense NM_001407615.1:c.5116A>T NP_001394544.1:p.Ile1706Phe missense NM_001407616.1:c.5116A>T NP_001394545.1:p.Ile1706Phe missense NM_001407617.1:c.5116A>T NP_001394546.1:p.Ile1706Phe missense NM_001407618.1:c.5116A>T NP_001394547.1:p.Ile1706Phe missense NM_001407619.1:c.5116A>T NP_001394548.1:p.Ile1706Phe missense NM_001407620.1:c.5116A>T NP_001394549.1:p.Ile1706Phe missense NM_001407621.1:c.5116A>T NP_001394550.1:p.Ile1706Phe missense NM_001407622.1:c.5116A>T NP_001394551.1:p.Ile1706Phe missense NM_001407623.1:c.5116A>T NP_001394552.1:p.Ile1706Phe missense NM_001407624.1:c.5116A>T NP_001394553.1:p.Ile1706Phe missense NM_001407625.1:c.5116A>T NP_001394554.1:p.Ile1706Phe missense NM_001407626.1:c.5116A>T NP_001394555.1:p.Ile1706Phe missense NM_001407627.1:c.5113A>T NP_001394556.1:p.Ile1705Phe missense NM_001407628.1:c.5113A>T NP_001394557.1:p.Ile1705Phe missense NM_001407629.1:c.5113A>T NP_001394558.1:p.Ile1705Phe missense NM_001407630.1:c.5113A>T NP_001394559.1:p.Ile1705Phe missense NM_001407631.1:c.5113A>T NP_001394560.1:p.Ile1705Phe missense NM_001407632.1:c.5113A>T NP_001394561.1:p.Ile1705Phe missense NM_001407633.1:c.5113A>T NP_001394562.1:p.Ile1705Phe missense NM_001407634.1:c.5113A>T NP_001394563.1:p.Ile1705Phe missense NM_001407635.1:c.5113A>T NP_001394564.1:p.Ile1705Phe missense NM_001407636.1:c.5113A>T NP_001394565.1:p.Ile1705Phe missense NM_001407637.1:c.5113A>T NP_001394566.1:p.Ile1705Phe missense NM_001407638.1:c.5113A>T NP_001394567.1:p.Ile1705Phe missense NM_001407639.1:c.5113A>T NP_001394568.1:p.Ile1705Phe missense NM_001407640.1:c.5113A>T NP_001394569.1:p.Ile1705Phe missense NM_001407641.1:c.5113A>T NP_001394570.1:p.Ile1705Phe missense NM_001407642.1:c.5113A>T NP_001394571.1:p.Ile1705Phe missense NM_001407644.1:c.5110A>T NP_001394573.1:p.Ile1704Phe missense NM_001407645.1:c.5110A>T NP_001394574.1:p.Ile1704Phe missense NM_001407646.1:c.5107A>T NP_001394575.1:p.Ile1703Phe missense NM_001407647.1:c.5104A>T NP_001394576.1:p.Ile1702Phe missense NM_001407648.1:c.5062A>T NP_001394577.1:p.Ile1688Phe missense NM_001407649.1:c.5059A>T NP_001394578.1:p.Ile1687Phe missense NM_001407653.1:c.5041A>T NP_001394582.1:p.Ile1681Phe missense NM_001407654.1:c.5041A>T NP_001394583.1:p.Ile1681Phe missense NM_001407655.1:c.5041A>T NP_001394584.1:p.Ile1681Phe missense NM_001407656.1:c.5038A>T NP_001394585.1:p.Ile1680Phe missense NM_001407657.1:c.5038A>T NP_001394586.1:p.Ile1680Phe missense NM_001407658.1:c.5038A>T NP_001394587.1:p.Ile1680Phe missense NM_001407659.1:c.5035A>T NP_001394588.1:p.Ile1679Phe missense NM_001407660.1:c.5035A>T NP_001394589.1:p.Ile1679Phe missense NM_001407661.1:c.5035A>T NP_001394590.1:p.Ile1679Phe missense NM_001407662.1:c.5035A>T NP_001394591.1:p.Ile1679Phe missense NM_001407663.1:c.5035A>T NP_001394592.1:p.Ile1679Phe missense NM_001407664.1:c.4996A>T NP_001394593.1:p.Ile1666Phe missense NM_001407665.1:c.4996A>T NP_001394594.1:p.Ile1666Phe missense NM_001407666.1:c.4996A>T NP_001394595.1:p.Ile1666Phe missense NM_001407667.1:c.4996A>T NP_001394596.1:p.Ile1666Phe missense NM_001407668.1:c.4996A>T NP_001394597.1:p.Ile1666Phe missense NM_001407669.1:c.4996A>T NP_001394598.1:p.Ile1666Phe missense NM_001407670.1:c.4993A>T NP_001394599.1:p.Ile1665Phe missense NM_001407671.1:c.4993A>T NP_001394600.1:p.Ile1665Phe missense NM_001407672.1:c.4993A>T NP_001394601.1:p.Ile1665Phe missense NM_001407673.1:c.4993A>T NP_001394602.1:p.Ile1665Phe missense NM_001407674.1:c.4993A>T NP_001394603.1:p.Ile1665Phe missense NM_001407675.1:c.4993A>T NP_001394604.1:p.Ile1665Phe missense NM_001407676.1:c.4993A>T NP_001394605.1:p.Ile1665Phe missense NM_001407677.1:c.4993A>T NP_001394606.1:p.Ile1665Phe missense NM_001407678.1:c.4993A>T NP_001394607.1:p.Ile1665Phe missense NM_001407679.1:c.4993A>T NP_001394608.1:p.Ile1665Phe missense NM_001407680.1:c.4993A>T NP_001394609.1:p.Ile1665Phe missense NM_001407681.1:c.4990A>T NP_001394610.1:p.Ile1664Phe missense NM_001407682.1:c.4990A>T NP_001394611.1:p.Ile1664Phe missense NM_001407683.1:c.4990A>T NP_001394612.1:p.Ile1664Phe missense NM_001407684.1:c.5119A>T NP_001394613.1:p.Ile1707Phe missense NM_001407685.1:c.4990A>T NP_001394614.1:p.Ile1664Phe missense NM_001407686.1:c.4990A>T NP_001394615.1:p.Ile1664Phe missense NM_001407687.1:c.4990A>T NP_001394616.1:p.Ile1664Phe missense NM_001407688.1:c.4990A>T NP_001394617.1:p.Ile1664Phe missense NM_001407689.1:c.4990A>T NP_001394618.1:p.Ile1664Phe missense NM_001407690.1:c.4987A>T NP_001394619.1:p.Ile1663Phe missense NM_001407691.1:c.4987A>T NP_001394620.1:p.Ile1663Phe missense NM_001407692.1:c.4978A>T NP_001394621.1:p.Ile1660Phe missense NM_001407694.1:c.4978A>T NP_001394623.1:p.Ile1660Phe missense NM_001407695.1:c.4978A>T NP_001394624.1:p.Ile1660Phe missense NM_001407696.1:c.4978A>T NP_001394625.1:p.Ile1660Phe missense NM_001407697.1:c.4978A>T NP_001394626.1:p.Ile1660Phe missense NM_001407698.1:c.4978A>T NP_001394627.1:p.Ile1660Phe missense NM_001407724.1:c.4978A>T NP_001394653.1:p.Ile1660Phe missense NM_001407725.1:c.4978A>T NP_001394654.1:p.Ile1660Phe missense NM_001407726.1:c.4978A>T NP_001394655.1:p.Ile1660Phe missense NM_001407727.1:c.4978A>T NP_001394656.1:p.Ile1660Phe missense NM_001407728.1:c.4978A>T NP_001394657.1:p.Ile1660Phe missense NM_001407729.1:c.4978A>T NP_001394658.1:p.Ile1660Phe missense NM_001407730.1:c.4978A>T NP_001394659.1:p.Ile1660Phe missense NM_001407731.1:c.4978A>T NP_001394660.1:p.Ile1660Phe missense NM_001407732.1:c.4975A>T NP_001394661.1:p.Ile1659Phe missense NM_001407733.1:c.4975A>T NP_001394662.1:p.Ile1659Phe missense NM_001407734.1:c.4975A>T NP_001394663.1:p.Ile1659Phe missense NM_001407735.1:c.4975A>T NP_001394664.1:p.Ile1659Phe missense NM_001407736.1:c.4975A>T NP_001394665.1:p.Ile1659Phe missense NM_001407737.1:c.4975A>T NP_001394666.1:p.Ile1659Phe missense NM_001407738.1:c.4975A>T NP_001394667.1:p.Ile1659Phe missense NM_001407739.1:c.4975A>T NP_001394668.1:p.Ile1659Phe missense NM_001407740.1:c.4975A>T NP_001394669.1:p.Ile1659Phe missense NM_001407741.1:c.4975A>T NP_001394670.1:p.Ile1659Phe missense NM_001407742.1:c.4975A>T NP_001394671.1:p.Ile1659Phe missense NM_001407743.1:c.4975A>T NP_001394672.1:p.Ile1659Phe missense NM_001407744.1:c.4975A>T NP_001394673.1:p.Ile1659Phe missense NM_001407745.1:c.4975A>T NP_001394674.1:p.Ile1659Phe missense NM_001407746.1:c.4975A>T NP_001394675.1:p.Ile1659Phe missense NM_001407747.1:c.4975A>T NP_001394676.1:p.Ile1659Phe missense NM_001407748.1:c.4975A>T NP_001394677.1:p.Ile1659Phe missense NM_001407749.1:c.4975A>T NP_001394678.1:p.Ile1659Phe missense NM_001407750.1:c.4975A>T NP_001394679.1:p.Ile1659Phe missense NM_001407751.1:c.4975A>T NP_001394680.1:p.Ile1659Phe missense NM_001407752.1:c.4975A>T NP_001394681.1:p.Ile1659Phe missense NM_001407838.1:c.4972A>T NP_001394767.1:p.Ile1658Phe missense NM_001407839.1:c.4972A>T NP_001394768.1:p.Ile1658Phe missense NM_001407841.1:c.4972A>T NP_001394770.1:p.Ile1658Phe missense NM_001407842.1:c.4972A>T NP_001394771.1:p.Ile1658Phe missense NM_001407843.1:c.4972A>T NP_001394772.1:p.Ile1658Phe missense NM_001407844.1:c.4972A>T NP_001394773.1:p.Ile1658Phe missense NM_001407845.1:c.4972A>T NP_001394774.1:p.Ile1658Phe missense NM_001407846.1:c.4972A>T NP_001394775.1:p.Ile1658Phe missense NM_001407847.1:c.4972A>T NP_001394776.1:p.Ile1658Phe missense NM_001407848.1:c.4972A>T NP_001394777.1:p.Ile1658Phe missense NM_001407849.1:c.4972A>T NP_001394778.1:p.Ile1658Phe missense NM_001407850.1:c.4972A>T NP_001394779.1:p.Ile1658Phe missense NM_001407851.1:c.4972A>T NP_001394780.1:p.Ile1658Phe missense NM_001407852.1:c.4972A>T NP_001394781.1:p.Ile1658Phe missense NM_001407853.1:c.4972A>T NP_001394782.1:p.Ile1658Phe missense NM_001407854.1:c.5119A>T NP_001394783.1:p.Ile1707Phe missense NM_001407858.1:c.5116A>T NP_001394787.1:p.Ile1706Phe missense NM_001407859.1:c.5116A>T NP_001394788.1:p.Ile1706Phe missense NM_001407860.1:c.5116A>T NP_001394789.1:p.Ile1706Phe missense NM_001407861.1:c.5113A>T NP_001394790.1:p.Ile1705Phe missense NM_001407862.1:c.4918A>T NP_001394791.1:p.Ile1640Phe missense NM_001407874.1:c.4912A>T NP_001394803.1:p.Ile1638Phe missense NM_001407875.1:c.4912A>T NP_001394804.1:p.Ile1638Phe missense NM_001407879.1:c.4909A>T NP_001394808.1:p.Ile1637Phe missense NM_001407881.1:c.4909A>T NP_001394810.1:p.Ile1637Phe missense NM_001407882.1:c.4909A>T NP_001394811.1:p.Ile1637Phe missense NM_001407884.1:c.4909A>T NP_001394813.1:p.Ile1637Phe missense NM_001407885.1:c.4909A>T NP_001394814.1:p.Ile1637Phe missense NM_001407886.1:c.4909A>T NP_001394815.1:p.Ile1637Phe missense NM_001407887.1:c.4909A>T NP_001394816.1:p.Ile1637Phe missense NM_001407889.1:c.4909A>T NP_001394818.1:p.Ile1637Phe missense NM_001407894.1:c.4906A>T NP_001394823.1:p.Ile1636Phe missense NM_001407895.1:c.4906A>T NP_001394824.1:p.Ile1636Phe missense NM_001407896.1:c.4906A>T NP_001394825.1:p.Ile1636Phe missense NM_001407897.1:c.4906A>T NP_001394826.1:p.Ile1636Phe missense NM_001407898.1:c.4906A>T NP_001394827.1:p.Ile1636Phe missense NM_001407899.1:c.4906A>T NP_001394828.1:p.Ile1636Phe missense NM_001407900.1:c.4906A>T NP_001394829.1:p.Ile1636Phe missense NM_001407902.1:c.4906A>T NP_001394831.1:p.Ile1636Phe missense NM_001407904.1:c.4906A>T NP_001394833.1:p.Ile1636Phe missense NM_001407906.1:c.4906A>T NP_001394835.1:p.Ile1636Phe missense NM_001407907.1:c.4906A>T NP_001394836.1:p.Ile1636Phe missense NM_001407908.1:c.4906A>T NP_001394837.1:p.Ile1636Phe missense NM_001407909.1:c.4906A>T NP_001394838.1:p.Ile1636Phe missense NM_001407910.1:c.4906A>T NP_001394839.1:p.Ile1636Phe missense NM_001407915.1:c.4903A>T NP_001394844.1:p.Ile1635Phe missense NM_001407916.1:c.4903A>T NP_001394845.1:p.Ile1635Phe missense NM_001407917.1:c.4903A>T NP_001394846.1:p.Ile1635Phe missense NM_001407918.1:c.4903A>T NP_001394847.1:p.Ile1635Phe missense NM_001407919.1:c.4996A>T NP_001394848.1:p.Ile1666Phe missense NM_001407920.1:c.4855A>T NP_001394849.1:p.Ile1619Phe missense NM_001407921.1:c.4855A>T NP_001394850.1:p.Ile1619Phe missense NM_001407922.1:c.4855A>T NP_001394851.1:p.Ile1619Phe missense NM_001407923.1:c.4855A>T NP_001394852.1:p.Ile1619Phe missense NM_001407924.1:c.4855A>T NP_001394853.1:p.Ile1619Phe missense NM_001407925.1:c.4855A>T NP_001394854.1:p.Ile1619Phe missense NM_001407926.1:c.4855A>T NP_001394855.1:p.Ile1619Phe missense NM_001407927.1:c.4852A>T NP_001394856.1:p.Ile1618Phe missense NM_001407928.1:c.4852A>T NP_001394857.1:p.Ile1618Phe missense NM_001407929.1:c.4852A>T NP_001394858.1:p.Ile1618Phe missense NM_001407930.1:c.4852A>T NP_001394859.1:p.Ile1618Phe missense NM_001407931.1:c.4852A>T NP_001394860.1:p.Ile1618Phe missense NM_001407932.1:c.4852A>T NP_001394861.1:p.Ile1618Phe missense NM_001407933.1:c.4852A>T NP_001394862.1:p.Ile1618Phe missense NM_001407934.1:c.4849A>T NP_001394863.1:p.Ile1617Phe missense NM_001407935.1:c.4849A>T NP_001394864.1:p.Ile1617Phe missense NM_001407936.1:c.4849A>T NP_001394865.1:p.Ile1617Phe missense NM_001407937.1:c.4996A>T NP_001394866.1:p.Ile1666Phe missense NM_001407938.1:c.4996A>T NP_001394867.1:p.Ile1666Phe missense NM_001407939.1:c.4993A>T NP_001394868.1:p.Ile1665Phe missense NM_001407940.1:c.4993A>T NP_001394869.1:p.Ile1665Phe missense NM_001407941.1:c.4990A>T NP_001394870.1:p.Ile1664Phe missense NM_001407942.1:c.4978A>T NP_001394871.1:p.Ile1660Phe missense NM_001407943.1:c.4975A>T NP_001394872.1:p.Ile1659Phe missense NM_001407944.1:c.4975A>T NP_001394873.1:p.Ile1659Phe missense NM_001407945.1:c.4975A>T NP_001394874.1:p.Ile1659Phe missense NM_001407946.1:c.4786A>T NP_001394875.1:p.Ile1596Phe missense NM_001407947.1:c.4786A>T NP_001394876.1:p.Ile1596Phe missense NM_001407948.1:c.4786A>T NP_001394877.1:p.Ile1596Phe missense NM_001407949.1:c.4786A>T NP_001394878.1:p.Ile1596Phe missense NM_001407950.1:c.4783A>T NP_001394879.1:p.Ile1595Phe missense NM_001407951.1:c.4783A>T NP_001394880.1:p.Ile1595Phe missense NM_001407952.1:c.4783A>T NP_001394881.1:p.Ile1595Phe missense NM_001407953.1:c.4783A>T NP_001394882.1:p.Ile1595Phe missense NM_001407954.1:c.4783A>T NP_001394883.1:p.Ile1595Phe missense NM_001407955.1:c.4783A>T NP_001394884.1:p.Ile1595Phe missense NM_001407956.1:c.4780A>T NP_001394885.1:p.Ile1594Phe missense NM_001407957.1:c.4780A>T NP_001394886.1:p.Ile1594Phe missense NM_001407958.1:c.4780A>T NP_001394887.1:p.Ile1594Phe missense NM_001407959.1:c.4738A>T NP_001394888.1:p.Ile1580Phe missense NM_001407960.1:c.4735A>T NP_001394889.1:p.Ile1579Phe missense NM_001407962.1:c.4735A>T NP_001394891.1:p.Ile1579Phe missense NM_001407963.1:c.4732A>T NP_001394892.1:p.Ile1578Phe missense NM_001407964.1:c.4657A>T NP_001394893.1:p.Ile1553Phe missense NM_001407965.1:c.4612A>T NP_001394894.1:p.Ile1538Phe missense NM_001407966.1:c.4231A>T NP_001394895.1:p.Ile1411Phe missense NM_001407967.1:c.4228A>T NP_001394896.1:p.Ile1410Phe missense NM_001407968.1:c.2515A>T NP_001394897.1:p.Ile839Phe missense NM_001407969.1:c.2512A>T NP_001394898.1:p.Ile838Phe missense NM_001407970.1:c.1876A>T NP_001394899.1:p.Ile626Phe missense NM_001407971.1:c.1876A>T NP_001394900.1:p.Ile626Phe missense NM_001407972.1:c.1873A>T NP_001394901.1:p.Ile625Phe missense NM_001407973.1:c.1810A>T NP_001394902.1:p.Ile604Phe missense NM_001407974.1:c.1810A>T NP_001394903.1:p.Ile604Phe missense NM_001407975.1:c.1810A>T NP_001394904.1:p.Ile604Phe missense NM_001407976.1:c.1810A>T NP_001394905.1:p.Ile604Phe missense NM_001407977.1:c.1810A>T NP_001394906.1:p.Ile604Phe missense NM_001407978.1:c.1810A>T NP_001394907.1:p.Ile604Phe missense NM_001407979.1:c.1807A>T NP_001394908.1:p.Ile603Phe missense NM_001407980.1:c.1807A>T NP_001394909.1:p.Ile603Phe missense NM_001407981.1:c.1807A>T NP_001394910.1:p.Ile603Phe missense NM_001407982.1:c.1807A>T NP_001394911.1:p.Ile603Phe missense NM_001407983.1:c.1807A>T NP_001394912.1:p.Ile603Phe missense NM_001407984.1:c.1807A>T NP_001394913.1:p.Ile603Phe missense NM_001407985.1:c.1807A>T NP_001394914.1:p.Ile603Phe missense NM_001407986.1:c.1807A>T NP_001394915.1:p.Ile603Phe missense NM_001407990.1:c.1807A>T NP_001394919.1:p.Ile603Phe missense NM_001407991.1:c.1807A>T NP_001394920.1:p.Ile603Phe missense NM_001407992.1:c.1807A>T NP_001394921.1:p.Ile603Phe missense NM_001407993.1:c.1807A>T NP_001394922.1:p.Ile603Phe missense NM_001408392.1:c.1804A>T NP_001395321.1:p.Ile602Phe missense NM_001408396.1:c.1804A>T NP_001395325.1:p.Ile602Phe missense NM_001408397.1:c.1804A>T NP_001395326.1:p.Ile602Phe missense NM_001408398.1:c.1804A>T NP_001395327.1:p.Ile602Phe missense NM_001408399.1:c.1804A>T NP_001395328.1:p.Ile602Phe missense NM_001408400.1:c.1804A>T NP_001395329.1:p.Ile602Phe missense NM_001408401.1:c.1804A>T NP_001395330.1:p.Ile602Phe missense NM_001408402.1:c.1804A>T NP_001395331.1:p.Ile602Phe missense NM_001408403.1:c.1804A>T NP_001395332.1:p.Ile602Phe missense NM_001408404.1:c.1804A>T NP_001395333.1:p.Ile602Phe missense NM_001408406.1:c.1801A>T NP_001395335.1:p.Ile601Phe missense NM_001408407.1:c.1801A>T NP_001395336.1:p.Ile601Phe missense NM_001408408.1:c.1801A>T NP_001395337.1:p.Ile601Phe missense NM_001408409.1:c.1798A>T NP_001395338.1:p.Ile600Phe missense NM_001408410.1:c.1735A>T NP_001395339.1:p.Ile579Phe missense NM_001408411.1:c.1732A>T NP_001395340.1:p.Ile578Phe missense NM_001408412.1:c.1729A>T NP_001395341.1:p.Ile577Phe missense NM_001408413.1:c.1729A>T NP_001395342.1:p.Ile577Phe missense NM_001408414.1:c.1729A>T NP_001395343.1:p.Ile577Phe missense NM_001408415.1:c.1729A>T NP_001395344.1:p.Ile577Phe missense NM_001408416.1:c.1729A>T NP_001395345.1:p.Ile577Phe missense NM_001408418.1:c.1693A>T NP_001395347.1:p.Ile565Phe missense NM_001408419.1:c.1693A>T NP_001395348.1:p.Ile565Phe missense NM_001408420.1:c.1693A>T NP_001395349.1:p.Ile565Phe missense NM_001408421.1:c.1690A>T NP_001395350.1:p.Ile564Phe missense NM_001408422.1:c.1690A>T NP_001395351.1:p.Ile564Phe missense NM_001408423.1:c.1690A>T NP_001395352.1:p.Ile564Phe missense NM_001408424.1:c.1690A>T NP_001395353.1:p.Ile564Phe missense NM_001408425.1:c.1687A>T NP_001395354.1:p.Ile563Phe missense NM_001408426.1:c.1687A>T NP_001395355.1:p.Ile563Phe missense NM_001408427.1:c.1687A>T NP_001395356.1:p.Ile563Phe missense NM_001408428.1:c.1687A>T NP_001395357.1:p.Ile563Phe missense NM_001408429.1:c.1687A>T NP_001395358.1:p.Ile563Phe missense NM_001408430.1:c.1687A>T NP_001395359.1:p.Ile563Phe missense NM_001408431.1:c.1687A>T NP_001395360.1:p.Ile563Phe missense NM_001408432.1:c.1684A>T NP_001395361.1:p.Ile562Phe missense NM_001408433.1:c.1684A>T NP_001395362.1:p.Ile562Phe missense NM_001408434.1:c.1684A>T NP_001395363.1:p.Ile562Phe missense NM_001408435.1:c.1684A>T NP_001395364.1:p.Ile562Phe missense NM_001408436.1:c.1684A>T NP_001395365.1:p.Ile562Phe missense NM_001408437.1:c.1684A>T NP_001395366.1:p.Ile562Phe missense NM_001408438.1:c.1684A>T NP_001395367.1:p.Ile562Phe missense NM_001408439.1:c.1684A>T NP_001395368.1:p.Ile562Phe missense NM_001408440.1:c.1684A>T NP_001395369.1:p.Ile562Phe missense NM_001408441.1:c.1684A>T NP_001395370.1:p.Ile562Phe missense NM_001408442.1:c.1684A>T NP_001395371.1:p.Ile562Phe missense NM_001408443.1:c.1684A>T NP_001395372.1:p.Ile562Phe missense NM_001408444.1:c.1684A>T NP_001395373.1:p.Ile562Phe missense NM_001408445.1:c.1681A>T NP_001395374.1:p.Ile561Phe missense NM_001408446.1:c.1681A>T NP_001395375.1:p.Ile561Phe missense NM_001408447.1:c.1681A>T NP_001395376.1:p.Ile561Phe missense NM_001408448.1:c.1681A>T NP_001395377.1:p.Ile561Phe missense NM_001408450.1:c.1681A>T NP_001395379.1:p.Ile561Phe missense NM_001408451.1:c.1675A>T NP_001395380.1:p.Ile559Phe missense NM_001408452.1:c.1669A>T NP_001395381.1:p.Ile557Phe missense NM_001408453.1:c.1669A>T NP_001395382.1:p.Ile557Phe missense NM_001408454.1:c.1669A>T NP_001395383.1:p.Ile557Phe missense NM_001408455.1:c.1669A>T NP_001395384.1:p.Ile557Phe missense NM_001408456.1:c.1669A>T NP_001395385.1:p.Ile557Phe missense NM_001408457.1:c.1669A>T NP_001395386.1:p.Ile557Phe missense NM_001408458.1:c.1666A>T NP_001395387.1:p.Ile556Phe missense NM_001408459.1:c.1666A>T NP_001395388.1:p.Ile556Phe missense NM_001408460.1:c.1666A>T NP_001395389.1:p.Ile556Phe missense NM_001408461.1:c.1666A>T NP_001395390.1:p.Ile556Phe missense NM_001408462.1:c.1666A>T NP_001395391.1:p.Ile556Phe missense NM_001408463.1:c.1666A>T NP_001395392.1:p.Ile556Phe missense NM_001408464.1:c.1666A>T NP_001395393.1:p.Ile556Phe missense NM_001408465.1:c.1666A>T NP_001395394.1:p.Ile556Phe missense NM_001408466.1:c.1666A>T NP_001395395.1:p.Ile556Phe missense NM_001408467.1:c.1666A>T NP_001395396.1:p.Ile556Phe missense NM_001408468.1:c.1663A>T NP_001395397.1:p.Ile555Phe missense NM_001408469.1:c.1663A>T NP_001395398.1:p.Ile555Phe missense NM_001408470.1:c.1663A>T NP_001395399.1:p.Ile555Phe missense NM_001408472.1:c.1807A>T NP_001395401.1:p.Ile603Phe missense NM_001408473.1:c.1804A>T NP_001395402.1:p.Ile602Phe missense NM_001408474.1:c.1609A>T NP_001395403.1:p.Ile537Phe missense NM_001408475.1:c.1606A>T NP_001395404.1:p.Ile536Phe missense NM_001408476.1:c.1606A>T NP_001395405.1:p.Ile536Phe missense NM_001408478.1:c.1600A>T NP_001395407.1:p.Ile534Phe missense NM_001408479.1:c.1600A>T NP_001395408.1:p.Ile534Phe missense NM_001408480.1:c.1600A>T NP_001395409.1:p.Ile534Phe missense NM_001408481.1:c.1597A>T NP_001395410.1:p.Ile533Phe missense NM_001408482.1:c.1597A>T NP_001395411.1:p.Ile533Phe missense NM_001408483.1:c.1597A>T NP_001395412.1:p.Ile533Phe missense NM_001408484.1:c.1597A>T NP_001395413.1:p.Ile533Phe missense NM_001408485.1:c.1597A>T NP_001395414.1:p.Ile533Phe missense NM_001408489.1:c.1597A>T NP_001395418.1:p.Ile533Phe missense NM_001408490.1:c.1597A>T NP_001395419.1:p.Ile533Phe missense NM_001408491.1:c.1597A>T NP_001395420.1:p.Ile533Phe missense NM_001408492.1:c.1594A>T NP_001395421.1:p.Ile532Phe missense NM_001408493.1:c.1594A>T NP_001395422.1:p.Ile532Phe missense NM_001408494.1:c.1570A>T NP_001395423.1:p.Ile524Phe missense NM_001408495.1:c.1564A>T NP_001395424.1:p.Ile522Phe missense NM_001408496.1:c.1546A>T NP_001395425.1:p.Ile516Phe missense NM_001408497.1:c.1546A>T NP_001395426.1:p.Ile516Phe missense NM_001408498.1:c.1546A>T NP_001395427.1:p.Ile516Phe missense NM_001408499.1:c.1546A>T NP_001395428.1:p.Ile516Phe missense NM_001408500.1:c.1546A>T NP_001395429.1:p.Ile516Phe missense NM_001408501.1:c.1546A>T NP_001395430.1:p.Ile516Phe missense NM_001408502.1:c.1543A>T NP_001395431.1:p.Ile515Phe missense NM_001408503.1:c.1543A>T NP_001395432.1:p.Ile515Phe missense NM_001408504.1:c.1543A>T NP_001395433.1:p.Ile515Phe missense NM_001408505.1:c.1540A>T NP_001395434.1:p.Ile514Phe missense NM_001408506.1:c.1483A>T NP_001395435.1:p.Ile495Phe missense NM_001408507.1:c.1480A>T NP_001395436.1:p.Ile494Phe missense NM_001408508.1:c.1471A>T NP_001395437.1:p.Ile491Phe missense NM_001408509.1:c.1468A>T NP_001395438.1:p.Ile490Phe missense NM_001408510.1:c.1429A>T NP_001395439.1:p.Ile477Phe missense NM_001408511.1:c.1426A>T NP_001395440.1:p.Ile476Phe missense NM_001408512.1:c.1306A>T NP_001395441.1:p.Ile436Phe missense NM_001408513.1:c.1279A>T NP_001395442.1:p.Ile427Phe missense NM_001408514.1:c.883A>T NP_001395443.1:p.Ile295Phe missense NM_007297.4:c.4978A>T NP_009228.2:p.Ile1660Phe missense NM_007298.4:c.1807A>T NP_009229.2:p.Ile603Phe missense NM_007299.4:c.1807A>T NP_009230.2:p.Ile603Phe missense NM_007300.4:c.5182A>T NP_009231.2:p.Ile1728Phe missense NM_007304.2:c.1807A>T NP_009235.2:p.Ile603Phe missense NR_027676.2:n.5296A>T non-coding transcript variant NC_000017.11:g.43063907T>A NC_000017.10:g.41215924T>A NG_005905.2:g.154077A>T LRG_292:g.154077A>T LRG_292t1:c.5119A>T LRG_292p1:p.Ile1707Phe - Protein change
- I603F, I1728F, I1660F, I1707F, I1411F, I1553F, I1578F, I1618F, I1635F, I1637F, I1688F, I490F, I494F, I524F, I555F, I563F, I565F, I600F, I1663F, I1664F, I1665F, I1666F, I1681F, I1705F, I1727F, I1729F, I427F, I532F, I533F, I536F, I537F, I564F, I579F, I601F, I602F, I626F, I839F, I1410F, I1580F, I1595F, I1617F, I1658F, I1659F, I1680F, I1687F, I1703F, I1704F, I295F, I476F, I491F, I495F, I514F, I516F, I522F, I534F, I559F, I562F, I577F, I604F, I625F, I838F, I1596F, I1619F, I1640F, I1538F, I1579F, I1594F, I1636F, I1638F, I1679F, I1702F, I1706F, I436F, I477F, I515F, I556F, I557F, I561F, I578F
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063906:T:A
-
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.5119A>T, a MISSENSE variant, produced a function score of -2.35, 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
|
- | RCV001078087.3 |
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: SCV001244130.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-2.34821946101204
|
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: SCV001244130.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5119A>T, a MISSENSE variant, produced a function score of -2.35, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5119A>T, a MISSENSE variant, produced a function score of -2.35, 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 rs1597820147 ...
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.