ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5575C>T (p.Pro1859Ser)
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
-
NM_007294.4(BRCA1):c.5575C>T (p.Pro1859Ser)
Variation ID: 462677 Accession: VCV000462677.11
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045695 (GRCh38) [ NCBI UCSC ] 17: 41197712 (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 Dec 26, 2017 May 1, 2024 Dec 17, 2021 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5575C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro1859Ser missense NM_001407571.1:c.5362C>T NP_001394500.1:p.Pro1788Ser missense NM_001407581.1:c.5641C>T NP_001394510.1:p.Pro1881Ser missense NM_001407582.1:c.5641C>T NP_001394511.1:p.Pro1881Ser missense NM_001407583.1:c.5638C>T NP_001394512.1:p.Pro1880Ser missense NM_001407585.1:c.5638C>T NP_001394514.1:p.Pro1880Ser missense NM_001407587.1:c.5638C>T NP_001394516.1:p.Pro1880Ser missense NM_001407590.1:c.5635C>T NP_001394519.1:p.Pro1879Ser missense NM_001407591.1:c.5635C>T NP_001394520.1:p.Pro1879Ser missense NM_001407593.1:c.5575C>T NP_001394522.1:p.Pro1859Ser missense NM_001407594.1:c.5575C>T NP_001394523.1:p.Pro1859Ser missense NM_001407596.1:c.5575C>T NP_001394525.1:p.Pro1859Ser missense NM_001407597.1:c.5575C>T NP_001394526.1:p.Pro1859Ser missense NM_001407598.1:c.5575C>T NP_001394527.1:p.Pro1859Ser missense NM_001407602.1:c.5575C>T NP_001394531.1:p.Pro1859Ser missense NM_001407603.1:c.5575C>T NP_001394532.1:p.Pro1859Ser missense NM_001407605.1:c.5575C>T NP_001394534.1:p.Pro1859Ser missense NM_001407610.1:c.5572C>T NP_001394539.1:p.Pro1858Ser missense NM_001407611.1:c.5572C>T NP_001394540.1:p.Pro1858Ser missense NM_001407612.1:c.5572C>T NP_001394541.1:p.Pro1858Ser missense NM_001407613.1:c.5572C>T NP_001394542.1:p.Pro1858Ser missense NM_001407614.1:c.5572C>T NP_001394543.1:p.Pro1858Ser missense NM_001407615.1:c.5572C>T NP_001394544.1:p.Pro1858Ser missense NM_001407616.1:c.5572C>T NP_001394545.1:p.Pro1858Ser missense NM_001407617.1:c.5572C>T NP_001394546.1:p.Pro1858Ser missense NM_001407618.1:c.5572C>T NP_001394547.1:p.Pro1858Ser missense NM_001407619.1:c.5572C>T NP_001394548.1:p.Pro1858Ser missense NM_001407620.1:c.5572C>T NP_001394549.1:p.Pro1858Ser missense NM_001407621.1:c.5572C>T NP_001394550.1:p.Pro1858Ser missense NM_001407622.1:c.5572C>T NP_001394551.1:p.Pro1858Ser missense NM_001407623.1:c.5572C>T NP_001394552.1:p.Pro1858Ser missense NM_001407624.1:c.5572C>T NP_001394553.1:p.Pro1858Ser missense NM_001407625.1:c.5572C>T NP_001394554.1:p.Pro1858Ser missense NM_001407626.1:c.5572C>T NP_001394555.1:p.Pro1858Ser missense NM_001407627.1:c.5569C>T NP_001394556.1:p.Pro1857Ser missense NM_001407628.1:c.5569C>T NP_001394557.1:p.Pro1857Ser missense NM_001407629.1:c.5569C>T NP_001394558.1:p.Pro1857Ser missense NM_001407630.1:c.5569C>T NP_001394559.1:p.Pro1857Ser missense NM_001407631.1:c.5569C>T NP_001394560.1:p.Pro1857Ser missense NM_001407632.1:c.5569C>T NP_001394561.1:p.Pro1857Ser missense NM_001407633.1:c.5569C>T NP_001394562.1:p.Pro1857Ser missense NM_001407634.1:c.5569C>T NP_001394563.1:p.Pro1857Ser missense NM_001407635.1:c.5569C>T NP_001394564.1:p.Pro1857Ser missense NM_001407636.1:c.5569C>T NP_001394565.1:p.Pro1857Ser missense NM_001407637.1:c.5569C>T NP_001394566.1:p.Pro1857Ser missense NM_001407638.1:c.5569C>T NP_001394567.1:p.Pro1857Ser missense NM_001407639.1:c.5569C>T NP_001394568.1:p.Pro1857Ser missense NM_001407640.1:c.5569C>T NP_001394569.1:p.Pro1857Ser missense NM_001407641.1:c.5569C>T NP_001394570.1:p.Pro1857Ser missense NM_001407642.1:c.5569C>T NP_001394571.1:p.Pro1857Ser missense NM_001407644.1:c.5566C>T NP_001394573.1:p.Pro1856Ser missense NM_001407645.1:c.5566C>T NP_001394574.1:p.Pro1856Ser missense NM_001407646.1:c.5563C>T NP_001394575.1:p.Pro1855Ser missense NM_001407647.1:c.5560C>T NP_001394576.1:p.Pro1854Ser missense NM_001407648.1:c.5518C>T NP_001394577.1:p.Pro1840Ser missense NM_001407649.1:c.5515C>T NP_001394578.1:p.Pro1839Ser missense NM_001407652.1:c.5497C>T NP_001394581.1:p.Pro1833Ser missense NM_001407653.1:c.5497C>T NP_001394582.1:p.Pro1833Ser missense NM_001407654.1:c.5497C>T NP_001394583.1:p.Pro1833Ser missense NM_001407655.1:c.5497C>T NP_001394584.1:p.Pro1833Ser missense NM_001407656.1:c.5494C>T NP_001394585.1:p.Pro1832Ser missense NM_001407657.1:c.5494C>T NP_001394586.1:p.Pro1832Ser missense NM_001407658.1:c.5494C>T NP_001394587.1:p.Pro1832Ser missense NM_001407659.1:c.5491C>T NP_001394588.1:p.Pro1831Ser missense NM_001407660.1:c.5491C>T NP_001394589.1:p.Pro1831Ser missense NM_001407661.1:c.5491C>T NP_001394590.1:p.Pro1831Ser missense NM_001407662.1:c.5491C>T NP_001394591.1:p.Pro1831Ser missense NM_001407663.1:c.5491C>T NP_001394592.1:p.Pro1831Ser missense NM_001407664.1:c.5452C>T NP_001394593.1:p.Pro1818Ser missense NM_001407665.1:c.5452C>T NP_001394594.1:p.Pro1818Ser missense NM_001407666.1:c.5452C>T NP_001394595.1:p.Pro1818Ser missense NM_001407667.1:c.5452C>T NP_001394596.1:p.Pro1818Ser missense NM_001407668.1:c.5452C>T NP_001394597.1:p.Pro1818Ser missense NM_001407669.1:c.5452C>T NP_001394598.1:p.Pro1818Ser missense NM_001407670.1:c.5449C>T NP_001394599.1:p.Pro1817Ser missense NM_001407671.1:c.5449C>T NP_001394600.1:p.Pro1817Ser missense NM_001407672.1:c.5449C>T NP_001394601.1:p.Pro1817Ser missense NM_001407673.1:c.5449C>T NP_001394602.1:p.Pro1817Ser missense NM_001407674.1:c.5449C>T NP_001394603.1:p.Pro1817Ser missense NM_001407675.1:c.5449C>T NP_001394604.1:p.Pro1817Ser missense NM_001407676.1:c.5449C>T NP_001394605.1:p.Pro1817Ser missense NM_001407677.1:c.5449C>T NP_001394606.1:p.Pro1817Ser missense NM_001407678.1:c.5449C>T NP_001394607.1:p.Pro1817Ser missense NM_001407679.1:c.5449C>T NP_001394608.1:p.Pro1817Ser missense NM_001407680.1:c.5449C>T NP_001394609.1:p.Pro1817Ser missense NM_001407681.1:c.5446C>T NP_001394610.1:p.Pro1816Ser missense NM_001407682.1:c.5446C>T NP_001394611.1:p.Pro1816Ser missense NM_001407683.1:c.5446C>T NP_001394612.1:p.Pro1816Ser missense NM_001407684.1:c.5446C>T NP_001394613.1:p.Pro1816Ser missense NM_001407685.1:c.5446C>T NP_001394614.1:p.Pro1816Ser missense NM_001407686.1:c.5446C>T NP_001394615.1:p.Pro1816Ser missense NM_001407687.1:c.5446C>T NP_001394616.1:p.Pro1816Ser missense NM_001407688.1:c.5446C>T NP_001394617.1:p.Pro1816Ser missense NM_001407689.1:c.5446C>T NP_001394618.1:p.Pro1816Ser missense NM_001407690.1:c.5443C>T NP_001394619.1:p.Pro1815Ser missense NM_001407691.1:c.5443C>T NP_001394620.1:p.Pro1815Ser missense NM_001407692.1:c.5434C>T NP_001394621.1:p.Pro1812Ser missense NM_001407694.1:c.5434C>T NP_001394623.1:p.Pro1812Ser missense NM_001407695.1:c.5434C>T NP_001394624.1:p.Pro1812Ser missense NM_001407696.1:c.5434C>T NP_001394625.1:p.Pro1812Ser missense NM_001407697.1:c.5434C>T NP_001394626.1:p.Pro1812Ser missense NM_001407698.1:c.5434C>T NP_001394627.1:p.Pro1812Ser missense NM_001407724.1:c.5434C>T NP_001394653.1:p.Pro1812Ser missense NM_001407725.1:c.5434C>T NP_001394654.1:p.Pro1812Ser missense NM_001407726.1:c.5434C>T NP_001394655.1:p.Pro1812Ser missense NM_001407727.1:c.5434C>T NP_001394656.1:p.Pro1812Ser missense NM_001407728.1:c.5434C>T NP_001394657.1:p.Pro1812Ser missense NM_001407729.1:c.5434C>T NP_001394658.1:p.Pro1812Ser missense NM_001407730.1:c.5434C>T NP_001394659.1:p.Pro1812Ser missense NM_001407731.1:c.5434C>T NP_001394660.1:p.Pro1812Ser missense NM_001407732.1:c.5431C>T NP_001394661.1:p.Pro1811Ser missense NM_001407733.1:c.5431C>T NP_001394662.1:p.Pro1811Ser missense NM_001407734.1:c.5431C>T NP_001394663.1:p.Pro1811Ser missense NM_001407735.1:c.5431C>T NP_001394664.1:p.Pro1811Ser missense NM_001407736.1:c.5431C>T NP_001394665.1:p.Pro1811Ser missense NM_001407737.1:c.5431C>T NP_001394666.1:p.Pro1811Ser missense NM_001407738.1:c.5431C>T NP_001394667.1:p.Pro1811Ser missense NM_001407739.1:c.5431C>T NP_001394668.1:p.Pro1811Ser missense NM_001407740.1:c.5431C>T NP_001394669.1:p.Pro1811Ser missense NM_001407741.1:c.5431C>T NP_001394670.1:p.Pro1811Ser missense NM_001407742.1:c.5431C>T NP_001394671.1:p.Pro1811Ser missense NM_001407743.1:c.5431C>T NP_001394672.1:p.Pro1811Ser missense NM_001407744.1:c.5431C>T NP_001394673.1:p.Pro1811Ser missense NM_001407745.1:c.5431C>T NP_001394674.1:p.Pro1811Ser missense NM_001407746.1:c.5431C>T NP_001394675.1:p.Pro1811Ser missense NM_001407747.1:c.5431C>T NP_001394676.1:p.Pro1811Ser missense NM_001407748.1:c.5431C>T NP_001394677.1:p.Pro1811Ser missense NM_001407749.1:c.5431C>T NP_001394678.1:p.Pro1811Ser missense NM_001407750.1:c.5431C>T NP_001394679.1:p.Pro1811Ser missense NM_001407751.1:c.5431C>T NP_001394680.1:p.Pro1811Ser missense NM_001407752.1:c.5431C>T NP_001394681.1:p.Pro1811Ser missense NM_001407838.1:c.5428C>T NP_001394767.1:p.Pro1810Ser missense NM_001407839.1:c.5428C>T NP_001394768.1:p.Pro1810Ser missense NM_001407841.1:c.5428C>T NP_001394770.1:p.Pro1810Ser missense NM_001407842.1:c.5428C>T NP_001394771.1:p.Pro1810Ser missense NM_001407843.1:c.5428C>T NP_001394772.1:p.Pro1810Ser missense NM_001407844.1:c.5428C>T NP_001394773.1:p.Pro1810Ser missense NM_001407845.1:c.5428C>T NP_001394774.1:p.Pro1810Ser missense NM_001407846.1:c.5428C>T NP_001394775.1:p.Pro1810Ser missense NM_001407847.1:c.5428C>T NP_001394776.1:p.Pro1810Ser missense NM_001407848.1:c.5428C>T NP_001394777.1:p.Pro1810Ser missense NM_001407849.1:c.5428C>T NP_001394778.1:p.Pro1810Ser missense NM_001407850.1:c.5428C>T NP_001394779.1:p.Pro1810Ser missense NM_001407851.1:c.5428C>T NP_001394780.1:p.Pro1810Ser missense NM_001407852.1:c.5428C>T NP_001394781.1:p.Pro1810Ser missense NM_001407853.1:c.5428C>T NP_001394782.1:p.Pro1810Ser missense NM_001407854.1:c.*89C>T NM_001407858.1:c.*89C>T NM_001407859.1:c.*89C>T NM_001407860.1:c.*89C>T NM_001407861.1:c.*89C>T NM_001407862.1:c.5374C>T NP_001394791.1:p.Pro1792Ser missense NM_001407863.1:c.5371C>T NP_001394792.1:p.Pro1791Ser missense NM_001407874.1:c.5368C>T NP_001394803.1:p.Pro1790Ser missense NM_001407875.1:c.5368C>T NP_001394804.1:p.Pro1790Ser missense NM_001407879.1:c.5365C>T NP_001394808.1:p.Pro1789Ser missense NM_001407881.1:c.5365C>T NP_001394810.1:p.Pro1789Ser missense NM_001407882.1:c.5365C>T NP_001394811.1:p.Pro1789Ser missense NM_001407884.1:c.5365C>T NP_001394813.1:p.Pro1789Ser missense NM_001407885.1:c.5365C>T NP_001394814.1:p.Pro1789Ser missense NM_001407886.1:c.5365C>T NP_001394815.1:p.Pro1789Ser missense NM_001407887.1:c.5365C>T NP_001394816.1:p.Pro1789Ser missense NM_001407889.1:c.5365C>T NP_001394818.1:p.Pro1789Ser missense NM_001407894.1:c.5362C>T NP_001394823.1:p.Pro1788Ser missense NM_001407895.1:c.5362C>T NP_001394824.1:p.Pro1788Ser missense NM_001407896.1:c.5362C>T NP_001394825.1:p.Pro1788Ser missense NM_001407897.1:c.5362C>T NP_001394826.1:p.Pro1788Ser missense NM_001407898.1:c.5362C>T NP_001394827.1:p.Pro1788Ser missense NM_001407899.1:c.5362C>T NP_001394828.1:p.Pro1788Ser missense NM_001407900.1:c.5362C>T NP_001394829.1:p.Pro1788Ser missense NM_001407902.1:c.5362C>T NP_001394831.1:p.Pro1788Ser missense NM_001407904.1:c.5362C>T NP_001394833.1:p.Pro1788Ser missense NM_001407906.1:c.5362C>T NP_001394835.1:p.Pro1788Ser missense NM_001407907.1:c.5362C>T NP_001394836.1:p.Pro1788Ser missense NM_001407908.1:c.5362C>T NP_001394837.1:p.Pro1788Ser missense NM_001407909.1:c.5362C>T NP_001394838.1:p.Pro1788Ser missense NM_001407910.1:c.5362C>T NP_001394839.1:p.Pro1788Ser missense NM_001407915.1:c.5359C>T NP_001394844.1:p.Pro1787Ser missense NM_001407916.1:c.5359C>T NP_001394845.1:p.Pro1787Ser missense NM_001407917.1:c.5359C>T NP_001394846.1:p.Pro1787Ser missense NM_001407918.1:c.5359C>T NP_001394847.1:p.Pro1787Ser missense NM_001407919.1:c.5323C>T NP_001394848.1:p.Pro1775Ser missense NM_001407920.1:c.5311C>T NP_001394849.1:p.Pro1771Ser missense NM_001407921.1:c.5311C>T NP_001394850.1:p.Pro1771Ser missense NM_001407922.1:c.5311C>T NP_001394851.1:p.Pro1771Ser missense NM_001407923.1:c.5311C>T NP_001394852.1:p.Pro1771Ser missense NM_001407924.1:c.5311C>T NP_001394853.1:p.Pro1771Ser missense NM_001407925.1:c.5311C>T NP_001394854.1:p.Pro1771Ser missense NM_001407926.1:c.5311C>T NP_001394855.1:p.Pro1771Ser missense NM_001407927.1:c.5308C>T NP_001394856.1:p.Pro1770Ser missense NM_001407928.1:c.5308C>T NP_001394857.1:p.Pro1770Ser missense NM_001407929.1:c.5308C>T NP_001394858.1:p.Pro1770Ser missense NM_001407930.1:c.5308C>T NP_001394859.1:p.Pro1770Ser missense NM_001407931.1:c.5308C>T NP_001394860.1:p.Pro1770Ser missense NM_001407932.1:c.5308C>T NP_001394861.1:p.Pro1770Ser missense NM_001407933.1:c.5308C>T NP_001394862.1:p.Pro1770Ser missense NM_001407934.1:c.5305C>T NP_001394863.1:p.Pro1769Ser missense NM_001407935.1:c.5305C>T NP_001394864.1:p.Pro1769Ser missense NM_001407936.1:c.5305C>T NP_001394865.1:p.Pro1769Ser missense NM_001407937.1:c.*89C>T NM_001407938.1:c.*89C>T NM_001407939.1:c.*89C>T NM_001407940.1:c.*89C>T NM_001407941.1:c.*89C>T NM_001407942.1:c.*89C>T NM_001407943.1:c.*89C>T NM_001407944.1:c.*89C>T NM_001407945.1:c.*89C>T NM_001407946.1:c.5242C>T NP_001394875.1:p.Pro1748Ser missense NM_001407947.1:c.5242C>T NP_001394876.1:p.Pro1748Ser missense NM_001407948.1:c.5242C>T NP_001394877.1:p.Pro1748Ser missense NM_001407949.1:c.5242C>T NP_001394878.1:p.Pro1748Ser missense NM_001407950.1:c.5239C>T NP_001394879.1:p.Pro1747Ser missense NM_001407951.1:c.5239C>T NP_001394880.1:p.Pro1747Ser missense NM_001407952.1:c.5239C>T NP_001394881.1:p.Pro1747Ser missense NM_001407953.1:c.5239C>T NP_001394882.1:p.Pro1747Ser missense NM_001407954.1:c.5239C>T NP_001394883.1:p.Pro1747Ser missense NM_001407955.1:c.5239C>T NP_001394884.1:p.Pro1747Ser missense NM_001407956.1:c.5236C>T NP_001394885.1:p.Pro1746Ser missense NM_001407957.1:c.5236C>T NP_001394886.1:p.Pro1746Ser missense NM_001407958.1:c.5236C>T NP_001394887.1:p.Pro1746Ser missense NM_001407959.1:c.5194C>T NP_001394888.1:p.Pro1732Ser missense NM_001407960.1:c.5191C>T NP_001394889.1:p.Pro1731Ser missense NM_001407962.1:c.5191C>T NP_001394891.1:p.Pro1731Ser missense NM_001407963.1:c.5188C>T NP_001394892.1:p.Pro1730Ser missense NM_001407964.1:c.5113C>T NP_001394893.1:p.Pro1705Ser missense NM_001407965.1:c.5068C>T NP_001394894.1:p.Pro1690Ser missense NM_001407966.1:c.4687C>T NP_001394895.1:p.Pro1563Ser missense NM_001407967.1:c.4684C>T NP_001394896.1:p.Pro1562Ser missense NM_001407968.1:c.2971C>T NP_001394897.1:p.Pro991Ser missense NM_001407969.1:c.2968C>T NP_001394898.1:p.Pro990Ser missense NM_001407970.1:c.2332C>T NP_001394899.1:p.Pro778Ser missense NM_001407971.1:c.2332C>T NP_001394900.1:p.Pro778Ser missense NM_001407972.1:c.2329C>T NP_001394901.1:p.Pro777Ser missense NM_001407973.1:c.2266C>T NP_001394902.1:p.Pro756Ser missense NM_001407974.1:c.2266C>T NP_001394903.1:p.Pro756Ser missense NM_001407975.1:c.2266C>T NP_001394904.1:p.Pro756Ser missense NM_001407976.1:c.2266C>T NP_001394905.1:p.Pro756Ser missense NM_001407977.1:c.2266C>T NP_001394906.1:p.Pro756Ser missense NM_001407978.1:c.2266C>T NP_001394907.1:p.Pro756Ser missense NM_001407979.1:c.2263C>T NP_001394908.1:p.Pro755Ser missense NM_001407980.1:c.2263C>T NP_001394909.1:p.Pro755Ser missense NM_001407981.1:c.2263C>T NP_001394910.1:p.Pro755Ser missense NM_001407982.1:c.2263C>T NP_001394911.1:p.Pro755Ser missense NM_001407983.1:c.2263C>T NP_001394912.1:p.Pro755Ser missense NM_001407984.1:c.2263C>T NP_001394913.1:p.Pro755Ser missense NM_001407985.1:c.2263C>T NP_001394914.1:p.Pro755Ser missense NM_001407986.1:c.2263C>T NP_001394915.1:p.Pro755Ser missense NM_001407990.1:c.2263C>T NP_001394919.1:p.Pro755Ser missense NM_001407991.1:c.2263C>T NP_001394920.1:p.Pro755Ser missense NM_001407992.1:c.2263C>T NP_001394921.1:p.Pro755Ser missense NM_001407993.1:c.2263C>T NP_001394922.1:p.Pro755Ser missense NM_001408392.1:c.2260C>T NP_001395321.1:p.Pro754Ser missense NM_001408396.1:c.2260C>T NP_001395325.1:p.Pro754Ser missense NM_001408397.1:c.2260C>T NP_001395326.1:p.Pro754Ser missense NM_001408398.1:c.2260C>T NP_001395327.1:p.Pro754Ser missense NM_001408399.1:c.2260C>T NP_001395328.1:p.Pro754Ser missense NM_001408400.1:c.2260C>T NP_001395329.1:p.Pro754Ser missense NM_001408401.1:c.2260C>T NP_001395330.1:p.Pro754Ser missense NM_001408402.1:c.2260C>T NP_001395331.1:p.Pro754Ser missense NM_001408403.1:c.2260C>T NP_001395332.1:p.Pro754Ser missense NM_001408404.1:c.2260C>T NP_001395333.1:p.Pro754Ser missense NM_001408406.1:c.2257C>T NP_001395335.1:p.Pro753Ser missense NM_001408407.1:c.2257C>T NP_001395336.1:p.Pro753Ser missense NM_001408408.1:c.2257C>T NP_001395337.1:p.Pro753Ser missense NM_001408409.1:c.2254C>T NP_001395338.1:p.Pro752Ser missense NM_001408410.1:c.2191C>T NP_001395339.1:p.Pro731Ser missense NM_001408411.1:c.2188C>T NP_001395340.1:p.Pro730Ser missense NM_001408412.1:c.2185C>T NP_001395341.1:p.Pro729Ser missense NM_001408413.1:c.2185C>T NP_001395342.1:p.Pro729Ser missense NM_001408414.1:c.2185C>T NP_001395343.1:p.Pro729Ser missense NM_001408415.1:c.2185C>T NP_001395344.1:p.Pro729Ser missense NM_001408416.1:c.2185C>T NP_001395345.1:p.Pro729Ser missense NM_001408418.1:c.2149C>T NP_001395347.1:p.Pro717Ser missense NM_001408419.1:c.2149C>T NP_001395348.1:p.Pro717Ser missense NM_001408420.1:c.2149C>T NP_001395349.1:p.Pro717Ser missense NM_001408421.1:c.2146C>T NP_001395350.1:p.Pro716Ser missense NM_001408422.1:c.2146C>T NP_001395351.1:p.Pro716Ser missense NM_001408423.1:c.2146C>T NP_001395352.1:p.Pro716Ser missense NM_001408424.1:c.2146C>T NP_001395353.1:p.Pro716Ser missense NM_001408425.1:c.2143C>T NP_001395354.1:p.Pro715Ser missense NM_001408426.1:c.2143C>T NP_001395355.1:p.Pro715Ser missense NM_001408427.1:c.2143C>T NP_001395356.1:p.Pro715Ser missense NM_001408428.1:c.2143C>T NP_001395357.1:p.Pro715Ser missense NM_001408429.1:c.2143C>T NP_001395358.1:p.Pro715Ser missense NM_001408430.1:c.2143C>T NP_001395359.1:p.Pro715Ser missense NM_001408431.1:c.2143C>T NP_001395360.1:p.Pro715Ser missense NM_001408432.1:c.2140C>T NP_001395361.1:p.Pro714Ser missense NM_001408433.1:c.2140C>T NP_001395362.1:p.Pro714Ser missense NM_001408434.1:c.2140C>T NP_001395363.1:p.Pro714Ser missense NM_001408435.1:c.2140C>T NP_001395364.1:p.Pro714Ser missense NM_001408436.1:c.2140C>T NP_001395365.1:p.Pro714Ser missense NM_001408437.1:c.2140C>T NP_001395366.1:p.Pro714Ser missense NM_001408438.1:c.2140C>T NP_001395367.1:p.Pro714Ser missense NM_001408439.1:c.2140C>T NP_001395368.1:p.Pro714Ser missense NM_001408440.1:c.2140C>T NP_001395369.1:p.Pro714Ser missense NM_001408441.1:c.2140C>T NP_001395370.1:p.Pro714Ser missense NM_001408442.1:c.2140C>T NP_001395371.1:p.Pro714Ser missense NM_001408443.1:c.2140C>T NP_001395372.1:p.Pro714Ser missense NM_001408444.1:c.2140C>T NP_001395373.1:p.Pro714Ser missense NM_001408445.1:c.2137C>T NP_001395374.1:p.Pro713Ser missense NM_001408446.1:c.2137C>T NP_001395375.1:p.Pro713Ser missense NM_001408447.1:c.2137C>T NP_001395376.1:p.Pro713Ser missense NM_001408448.1:c.2137C>T NP_001395377.1:p.Pro713Ser missense NM_001408450.1:c.2137C>T NP_001395379.1:p.Pro713Ser missense NM_001408451.1:c.2131C>T NP_001395380.1:p.Pro711Ser missense NM_001408452.1:c.2125C>T NP_001395381.1:p.Pro709Ser missense NM_001408453.1:c.2125C>T NP_001395382.1:p.Pro709Ser missense NM_001408454.1:c.2125C>T NP_001395383.1:p.Pro709Ser missense NM_001408455.1:c.2125C>T NP_001395384.1:p.Pro709Ser missense NM_001408456.1:c.2125C>T NP_001395385.1:p.Pro709Ser missense NM_001408457.1:c.2125C>T NP_001395386.1:p.Pro709Ser missense NM_001408458.1:c.2122C>T NP_001395387.1:p.Pro708Ser missense NM_001408459.1:c.2122C>T NP_001395388.1:p.Pro708Ser missense NM_001408460.1:c.2122C>T NP_001395389.1:p.Pro708Ser missense NM_001408461.1:c.2122C>T NP_001395390.1:p.Pro708Ser missense NM_001408462.1:c.2122C>T NP_001395391.1:p.Pro708Ser missense NM_001408463.1:c.2122C>T NP_001395392.1:p.Pro708Ser missense NM_001408464.1:c.2122C>T NP_001395393.1:p.Pro708Ser missense NM_001408465.1:c.2122C>T NP_001395394.1:p.Pro708Ser missense NM_001408466.1:c.2122C>T NP_001395395.1:p.Pro708Ser missense NM_001408467.1:c.2122C>T NP_001395396.1:p.Pro708Ser missense NM_001408468.1:c.2119C>T NP_001395397.1:p.Pro707Ser missense NM_001408469.1:c.2119C>T NP_001395398.1:p.Pro707Ser missense NM_001408470.1:c.2119C>T NP_001395399.1:p.Pro707Ser missense NM_001408472.1:c.*89C>T NM_001408473.1:c.*89C>T NM_001408474.1:c.2065C>T NP_001395403.1:p.Pro689Ser missense NM_001408475.1:c.2062C>T NP_001395404.1:p.Pro688Ser missense NM_001408476.1:c.2062C>T NP_001395405.1:p.Pro688Ser missense NM_001408478.1:c.2056C>T NP_001395407.1:p.Pro686Ser missense NM_001408479.1:c.2056C>T NP_001395408.1:p.Pro686Ser missense NM_001408480.1:c.2056C>T NP_001395409.1:p.Pro686Ser missense NM_001408481.1:c.2053C>T NP_001395410.1:p.Pro685Ser missense NM_001408482.1:c.2053C>T NP_001395411.1:p.Pro685Ser missense NM_001408483.1:c.2053C>T NP_001395412.1:p.Pro685Ser missense NM_001408484.1:c.2053C>T NP_001395413.1:p.Pro685Ser missense NM_001408485.1:c.2053C>T NP_001395414.1:p.Pro685Ser missense NM_001408489.1:c.2053C>T NP_001395418.1:p.Pro685Ser missense NM_001408490.1:c.2053C>T NP_001395419.1:p.Pro685Ser missense NM_001408491.1:c.2053C>T NP_001395420.1:p.Pro685Ser missense NM_001408492.1:c.2050C>T NP_001395421.1:p.Pro684Ser missense NM_001408493.1:c.2050C>T NP_001395422.1:p.Pro684Ser missense NM_001408494.1:c.2026C>T NP_001395423.1:p.Pro676Ser missense NM_001408495.1:c.2020C>T NP_001395424.1:p.Pro674Ser missense NM_001408496.1:c.2002C>T NP_001395425.1:p.Pro668Ser missense NM_001408497.1:c.2002C>T NP_001395426.1:p.Pro668Ser missense NM_001408498.1:c.2002C>T NP_001395427.1:p.Pro668Ser missense NM_001408499.1:c.2002C>T NP_001395428.1:p.Pro668Ser missense NM_001408500.1:c.2002C>T NP_001395429.1:p.Pro668Ser missense NM_001408501.1:c.2002C>T NP_001395430.1:p.Pro668Ser missense NM_001408502.1:c.1999C>T NP_001395431.1:p.Pro667Ser missense NM_001408503.1:c.1999C>T NP_001395432.1:p.Pro667Ser missense NM_001408504.1:c.1999C>T NP_001395433.1:p.Pro667Ser missense NM_001408505.1:c.1996C>T NP_001395434.1:p.Pro666Ser missense NM_001408506.1:c.1939C>T NP_001395435.1:p.Pro647Ser missense NM_001408507.1:c.1936C>T NP_001395436.1:p.Pro646Ser missense NM_001408508.1:c.1927C>T NP_001395437.1:p.Pro643Ser missense NM_001408509.1:c.1924C>T NP_001395438.1:p.Pro642Ser missense NM_001408510.1:c.1885C>T NP_001395439.1:p.Pro629Ser missense NM_001408511.1:c.1882C>T NP_001395440.1:p.Pro628Ser missense NM_001408512.1:c.1762C>T NP_001395441.1:p.Pro588Ser missense NM_001408513.1:c.1735C>T NP_001395442.1:p.Pro579Ser missense NM_001408514.1:c.1339C>T NP_001395443.1:p.Pro447Ser missense NM_007297.4:c.5434C>T NP_009228.2:p.Pro1812Ser missense NM_007298.4:c.2263C>T NP_009229.2:p.Pro755Ser missense NM_007299.4:c.*89C>T 3 prime UTR NM_007300.4:c.5638C>T NP_009231.2:p.Pro1880Ser missense NM_007304.2:c.2263C>T NP_009235.2:p.Pro755Ser missense NR_027676.2:n.5752C>T non-coding transcript variant NC_000017.11:g.43045695G>A NC_000017.10:g.41197712G>A NG_005905.2:g.172289C>T LRG_292:g.172289C>T LRG_292t1:c.5575C>T LRG_292p1:p.Pro1859Ser - Protein change
- P1859S, P1812S, P1880S, P755S, P1563S, P1690S, P1731S, P1747S, P1770S, P1771S, P1788S, P1791S, P1792S, P1833S, P1854S, P1858S, P1879S, P588S, P643S, P668S, P674S, P685S, P707S, P753S, P754S, P777S, P1562S, P1732S, P1769S, P1787S, P1789S, P1790S, P1811S, P1816S, P1832S, P1855S, P1857S, P1881S, P628S, P629S, P642S, P646S, P647S, P676S, P688S, P713S, P716S, P717S, P729S, P778S, P991S, P1705S, P1746S, P1748S, P1775S, P1817S, P1818S, P1856S, P447S, P579S, P666S, P667S, P684S, P686S, P689S, P708S, P709S, P711S, P714S, P730S, P731S, P752S, P756S, P990S, P1730S, P1810S, P1815S, P1831S, P1839S, P1840S, P715S
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045694:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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 | ||
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12894 | 14680 |
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. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
Mar 13, 2017 | RCV000530109.7 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Jun 11, 2018 | RCV000779880.2 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Dec 17, 2021 | RCV002350231.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Uncertain significance
(Jun 11, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000916759.1
First in ClinVar: Jun 02, 2019 Last updated: Jun 02, 2019 |
Comment:
Variant summary: BRCA1 c.5575C>T (p.Pro1859Ser) results in a non-conservative amino acid change in the last exon of the encoded protein sequence. Three of four in-silico … (more)
Variant summary: BRCA1 c.5575C>T (p.Pro1859Ser) results in a non-conservative amino acid change in the last exon of the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 245578 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5575C>T in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submssion from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
|
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Uncertain significance
(Mar 13, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000636055.4
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, … (more)
In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. This sequence change replaces proline with serine at codon 1859 of the BRCA1 protein (p.Pro1859Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. (less)
|
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Uncertain significance
(Dec 17, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002647328.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.P1859S variant (also known as c.5575C>T), located in coding exon 22 of the BRCA1 gene, results from a C to T substitution at nucleotide … (more)
The p.P1859S variant (also known as c.5575C>T), located in coding exon 22 of the BRCA1 gene, results from a C to T substitution at nucleotide position 5575. The proline at codon 1859 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs1555574342 ...
HelpRecord last updated Jun 02, 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.