ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5567C>T (p.Pro1856Leu)
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.5567C>T (p.Pro1856Leu)
Variation ID: 921369 Accession: VCV000921369.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 41197720 (GRCh37) [ NCBI UCSC ] 17: 43045703 (GRCh38) [ 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 Jun 22, 2020 Jun 22, 2020 Jun 27, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5567C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro1856Leu missense NM_001407571.1:c.5354C>T NP_001394500.1:p.Pro1785Leu missense NM_001407581.1:c.5633C>T NP_001394510.1:p.Pro1878Leu missense NM_001407582.1:c.5633C>T NP_001394511.1:p.Pro1878Leu missense NM_001407583.1:c.5630C>T NP_001394512.1:p.Pro1877Leu missense NM_001407585.1:c.5630C>T NP_001394514.1:p.Pro1877Leu missense NM_001407587.1:c.5630C>T NP_001394516.1:p.Pro1877Leu missense NM_001407590.1:c.5627C>T NP_001394519.1:p.Pro1876Leu missense NM_001407591.1:c.5627C>T NP_001394520.1:p.Pro1876Leu missense NM_001407593.1:c.5567C>T NP_001394522.1:p.Pro1856Leu missense NM_001407594.1:c.5567C>T NP_001394523.1:p.Pro1856Leu missense NM_001407596.1:c.5567C>T NP_001394525.1:p.Pro1856Leu missense NM_001407597.1:c.5567C>T NP_001394526.1:p.Pro1856Leu missense NM_001407598.1:c.5567C>T NP_001394527.1:p.Pro1856Leu missense NM_001407602.1:c.5567C>T NP_001394531.1:p.Pro1856Leu missense NM_001407603.1:c.5567C>T NP_001394532.1:p.Pro1856Leu missense NM_001407605.1:c.5567C>T NP_001394534.1:p.Pro1856Leu missense NM_001407610.1:c.5564C>T NP_001394539.1:p.Pro1855Leu missense NM_001407611.1:c.5564C>T NP_001394540.1:p.Pro1855Leu missense NM_001407612.1:c.5564C>T NP_001394541.1:p.Pro1855Leu missense NM_001407613.1:c.5564C>T NP_001394542.1:p.Pro1855Leu missense NM_001407614.1:c.5564C>T NP_001394543.1:p.Pro1855Leu missense NM_001407615.1:c.5564C>T NP_001394544.1:p.Pro1855Leu missense NM_001407616.1:c.5564C>T NP_001394545.1:p.Pro1855Leu missense NM_001407617.1:c.5564C>T NP_001394546.1:p.Pro1855Leu missense NM_001407618.1:c.5564C>T NP_001394547.1:p.Pro1855Leu missense NM_001407619.1:c.5564C>T NP_001394548.1:p.Pro1855Leu missense NM_001407620.1:c.5564C>T NP_001394549.1:p.Pro1855Leu missense NM_001407621.1:c.5564C>T NP_001394550.1:p.Pro1855Leu missense NM_001407622.1:c.5564C>T NP_001394551.1:p.Pro1855Leu missense NM_001407623.1:c.5564C>T NP_001394552.1:p.Pro1855Leu missense NM_001407624.1:c.5564C>T NP_001394553.1:p.Pro1855Leu missense NM_001407625.1:c.5564C>T NP_001394554.1:p.Pro1855Leu missense NM_001407626.1:c.5564C>T NP_001394555.1:p.Pro1855Leu missense NM_001407627.1:c.5561C>T NP_001394556.1:p.Pro1854Leu missense NM_001407628.1:c.5561C>T NP_001394557.1:p.Pro1854Leu missense NM_001407629.1:c.5561C>T NP_001394558.1:p.Pro1854Leu missense NM_001407630.1:c.5561C>T NP_001394559.1:p.Pro1854Leu missense NM_001407631.1:c.5561C>T NP_001394560.1:p.Pro1854Leu missense NM_001407632.1:c.5561C>T NP_001394561.1:p.Pro1854Leu missense NM_001407633.1:c.5561C>T NP_001394562.1:p.Pro1854Leu missense NM_001407634.1:c.5561C>T NP_001394563.1:p.Pro1854Leu missense NM_001407635.1:c.5561C>T NP_001394564.1:p.Pro1854Leu missense NM_001407636.1:c.5561C>T NP_001394565.1:p.Pro1854Leu missense NM_001407637.1:c.5561C>T NP_001394566.1:p.Pro1854Leu missense NM_001407638.1:c.5561C>T NP_001394567.1:p.Pro1854Leu missense NM_001407639.1:c.5561C>T NP_001394568.1:p.Pro1854Leu missense NM_001407640.1:c.5561C>T NP_001394569.1:p.Pro1854Leu missense NM_001407641.1:c.5561C>T NP_001394570.1:p.Pro1854Leu missense NM_001407642.1:c.5561C>T NP_001394571.1:p.Pro1854Leu missense NM_001407644.1:c.5558C>T NP_001394573.1:p.Pro1853Leu missense NM_001407645.1:c.5558C>T NP_001394574.1:p.Pro1853Leu missense NM_001407646.1:c.5555C>T NP_001394575.1:p.Pro1852Leu missense NM_001407647.1:c.5552C>T NP_001394576.1:p.Pro1851Leu missense NM_001407648.1:c.5510C>T NP_001394577.1:p.Pro1837Leu missense NM_001407649.1:c.5507C>T NP_001394578.1:p.Pro1836Leu missense NM_001407652.1:c.5489C>T NP_001394581.1:p.Pro1830Leu missense NM_001407653.1:c.5489C>T NP_001394582.1:p.Pro1830Leu missense NM_001407654.1:c.5489C>T NP_001394583.1:p.Pro1830Leu missense NM_001407655.1:c.5489C>T NP_001394584.1:p.Pro1830Leu missense NM_001407656.1:c.5486C>T NP_001394585.1:p.Pro1829Leu missense NM_001407657.1:c.5486C>T NP_001394586.1:p.Pro1829Leu missense NM_001407658.1:c.5486C>T NP_001394587.1:p.Pro1829Leu missense NM_001407659.1:c.5483C>T NP_001394588.1:p.Pro1828Leu missense NM_001407660.1:c.5483C>T NP_001394589.1:p.Pro1828Leu missense NM_001407661.1:c.5483C>T NP_001394590.1:p.Pro1828Leu missense NM_001407662.1:c.5483C>T NP_001394591.1:p.Pro1828Leu missense NM_001407663.1:c.5483C>T NP_001394592.1:p.Pro1828Leu missense NM_001407664.1:c.5444C>T NP_001394593.1:p.Pro1815Leu missense NM_001407665.1:c.5444C>T NP_001394594.1:p.Pro1815Leu missense NM_001407666.1:c.5444C>T NP_001394595.1:p.Pro1815Leu missense NM_001407667.1:c.5444C>T NP_001394596.1:p.Pro1815Leu missense NM_001407668.1:c.5444C>T NP_001394597.1:p.Pro1815Leu missense NM_001407669.1:c.5444C>T NP_001394598.1:p.Pro1815Leu missense NM_001407670.1:c.5441C>T NP_001394599.1:p.Pro1814Leu missense NM_001407671.1:c.5441C>T NP_001394600.1:p.Pro1814Leu missense NM_001407672.1:c.5441C>T NP_001394601.1:p.Pro1814Leu missense NM_001407673.1:c.5441C>T NP_001394602.1:p.Pro1814Leu missense NM_001407674.1:c.5441C>T NP_001394603.1:p.Pro1814Leu missense NM_001407675.1:c.5441C>T NP_001394604.1:p.Pro1814Leu missense NM_001407676.1:c.5441C>T NP_001394605.1:p.Pro1814Leu missense NM_001407677.1:c.5441C>T NP_001394606.1:p.Pro1814Leu missense NM_001407678.1:c.5441C>T NP_001394607.1:p.Pro1814Leu missense NM_001407679.1:c.5441C>T NP_001394608.1:p.Pro1814Leu missense NM_001407680.1:c.5441C>T NP_001394609.1:p.Pro1814Leu missense NM_001407681.1:c.5438C>T NP_001394610.1:p.Pro1813Leu missense NM_001407682.1:c.5438C>T NP_001394611.1:p.Pro1813Leu missense NM_001407683.1:c.5438C>T NP_001394612.1:p.Pro1813Leu missense NM_001407684.1:c.5438C>T NP_001394613.1:p.Pro1813Leu missense NM_001407685.1:c.5438C>T NP_001394614.1:p.Pro1813Leu missense NM_001407686.1:c.5438C>T NP_001394615.1:p.Pro1813Leu missense NM_001407687.1:c.5438C>T NP_001394616.1:p.Pro1813Leu missense NM_001407688.1:c.5438C>T NP_001394617.1:p.Pro1813Leu missense NM_001407689.1:c.5438C>T NP_001394618.1:p.Pro1813Leu missense NM_001407690.1:c.5435C>T NP_001394619.1:p.Pro1812Leu missense NM_001407691.1:c.5435C>T NP_001394620.1:p.Pro1812Leu missense NM_001407692.1:c.5426C>T NP_001394621.1:p.Pro1809Leu missense NM_001407694.1:c.5426C>T NP_001394623.1:p.Pro1809Leu missense NM_001407695.1:c.5426C>T NP_001394624.1:p.Pro1809Leu missense NM_001407696.1:c.5426C>T NP_001394625.1:p.Pro1809Leu missense NM_001407697.1:c.5426C>T NP_001394626.1:p.Pro1809Leu missense NM_001407698.1:c.5426C>T NP_001394627.1:p.Pro1809Leu missense NM_001407724.1:c.5426C>T NP_001394653.1:p.Pro1809Leu missense NM_001407725.1:c.5426C>T NP_001394654.1:p.Pro1809Leu missense NM_001407726.1:c.5426C>T NP_001394655.1:p.Pro1809Leu missense NM_001407727.1:c.5426C>T NP_001394656.1:p.Pro1809Leu missense NM_001407728.1:c.5426C>T NP_001394657.1:p.Pro1809Leu missense NM_001407729.1:c.5426C>T NP_001394658.1:p.Pro1809Leu missense NM_001407730.1:c.5426C>T NP_001394659.1:p.Pro1809Leu missense NM_001407731.1:c.5426C>T NP_001394660.1:p.Pro1809Leu missense NM_001407732.1:c.5423C>T NP_001394661.1:p.Pro1808Leu missense NM_001407733.1:c.5423C>T NP_001394662.1:p.Pro1808Leu missense NM_001407734.1:c.5423C>T NP_001394663.1:p.Pro1808Leu missense NM_001407735.1:c.5423C>T NP_001394664.1:p.Pro1808Leu missense NM_001407736.1:c.5423C>T NP_001394665.1:p.Pro1808Leu missense NM_001407737.1:c.5423C>T NP_001394666.1:p.Pro1808Leu missense NM_001407738.1:c.5423C>T NP_001394667.1:p.Pro1808Leu missense NM_001407739.1:c.5423C>T NP_001394668.1:p.Pro1808Leu missense NM_001407740.1:c.5423C>T NP_001394669.1:p.Pro1808Leu missense NM_001407741.1:c.5423C>T NP_001394670.1:p.Pro1808Leu missense NM_001407742.1:c.5423C>T NP_001394671.1:p.Pro1808Leu missense NM_001407743.1:c.5423C>T NP_001394672.1:p.Pro1808Leu missense NM_001407744.1:c.5423C>T NP_001394673.1:p.Pro1808Leu missense NM_001407745.1:c.5423C>T NP_001394674.1:p.Pro1808Leu missense NM_001407746.1:c.5423C>T NP_001394675.1:p.Pro1808Leu missense NM_001407747.1:c.5423C>T NP_001394676.1:p.Pro1808Leu missense NM_001407748.1:c.5423C>T NP_001394677.1:p.Pro1808Leu missense NM_001407749.1:c.5423C>T NP_001394678.1:p.Pro1808Leu missense NM_001407750.1:c.5423C>T NP_001394679.1:p.Pro1808Leu missense NM_001407751.1:c.5423C>T NP_001394680.1:p.Pro1808Leu missense NM_001407752.1:c.5423C>T NP_001394681.1:p.Pro1808Leu missense NM_001407838.1:c.5420C>T NP_001394767.1:p.Pro1807Leu missense NM_001407839.1:c.5420C>T NP_001394768.1:p.Pro1807Leu missense NM_001407841.1:c.5420C>T NP_001394770.1:p.Pro1807Leu missense NM_001407842.1:c.5420C>T NP_001394771.1:p.Pro1807Leu missense NM_001407843.1:c.5420C>T NP_001394772.1:p.Pro1807Leu missense NM_001407844.1:c.5420C>T NP_001394773.1:p.Pro1807Leu missense NM_001407845.1:c.5420C>T NP_001394774.1:p.Pro1807Leu missense NM_001407846.1:c.5420C>T NP_001394775.1:p.Pro1807Leu missense NM_001407847.1:c.5420C>T NP_001394776.1:p.Pro1807Leu missense NM_001407848.1:c.5420C>T NP_001394777.1:p.Pro1807Leu missense NM_001407849.1:c.5420C>T NP_001394778.1:p.Pro1807Leu missense NM_001407850.1:c.5420C>T NP_001394779.1:p.Pro1807Leu missense NM_001407851.1:c.5420C>T NP_001394780.1:p.Pro1807Leu missense NM_001407852.1:c.5420C>T NP_001394781.1:p.Pro1807Leu missense NM_001407853.1:c.5420C>T NP_001394782.1:p.Pro1807Leu missense NM_001407854.1:c.*81C>T NM_001407858.1:c.*81C>T NM_001407859.1:c.*81C>T NM_001407860.1:c.*81C>T NM_001407861.1:c.*81C>T NM_001407862.1:c.5366C>T NP_001394791.1:p.Pro1789Leu missense NM_001407863.1:c.5363C>T NP_001394792.1:p.Pro1788Leu missense NM_001407874.1:c.5360C>T NP_001394803.1:p.Pro1787Leu missense NM_001407875.1:c.5360C>T NP_001394804.1:p.Pro1787Leu missense NM_001407879.1:c.5357C>T NP_001394808.1:p.Pro1786Leu missense NM_001407881.1:c.5357C>T NP_001394810.1:p.Pro1786Leu missense NM_001407882.1:c.5357C>T NP_001394811.1:p.Pro1786Leu missense NM_001407884.1:c.5357C>T NP_001394813.1:p.Pro1786Leu missense NM_001407885.1:c.5357C>T NP_001394814.1:p.Pro1786Leu missense NM_001407886.1:c.5357C>T NP_001394815.1:p.Pro1786Leu missense NM_001407887.1:c.5357C>T NP_001394816.1:p.Pro1786Leu missense NM_001407889.1:c.5357C>T NP_001394818.1:p.Pro1786Leu missense NM_001407894.1:c.5354C>T NP_001394823.1:p.Pro1785Leu missense NM_001407895.1:c.5354C>T NP_001394824.1:p.Pro1785Leu missense NM_001407896.1:c.5354C>T NP_001394825.1:p.Pro1785Leu missense NM_001407897.1:c.5354C>T NP_001394826.1:p.Pro1785Leu missense NM_001407898.1:c.5354C>T NP_001394827.1:p.Pro1785Leu missense NM_001407899.1:c.5354C>T NP_001394828.1:p.Pro1785Leu missense NM_001407900.1:c.5354C>T NP_001394829.1:p.Pro1785Leu missense NM_001407902.1:c.5354C>T NP_001394831.1:p.Pro1785Leu missense NM_001407904.1:c.5354C>T NP_001394833.1:p.Pro1785Leu missense NM_001407906.1:c.5354C>T NP_001394835.1:p.Pro1785Leu missense NM_001407907.1:c.5354C>T NP_001394836.1:p.Pro1785Leu missense NM_001407908.1:c.5354C>T NP_001394837.1:p.Pro1785Leu missense NM_001407909.1:c.5354C>T NP_001394838.1:p.Pro1785Leu missense NM_001407910.1:c.5354C>T NP_001394839.1:p.Pro1785Leu missense NM_001407915.1:c.5351C>T NP_001394844.1:p.Pro1784Leu missense NM_001407916.1:c.5351C>T NP_001394845.1:p.Pro1784Leu missense NM_001407917.1:c.5351C>T NP_001394846.1:p.Pro1784Leu missense NM_001407918.1:c.5351C>T NP_001394847.1:p.Pro1784Leu missense NM_001407919.1:c.5315C>T NP_001394848.1:p.Pro1772Leu missense NM_001407920.1:c.5303C>T NP_001394849.1:p.Pro1768Leu missense NM_001407921.1:c.5303C>T NP_001394850.1:p.Pro1768Leu missense NM_001407922.1:c.5303C>T NP_001394851.1:p.Pro1768Leu missense NM_001407923.1:c.5303C>T NP_001394852.1:p.Pro1768Leu missense NM_001407924.1:c.5303C>T NP_001394853.1:p.Pro1768Leu missense NM_001407925.1:c.5303C>T NP_001394854.1:p.Pro1768Leu missense NM_001407926.1:c.5303C>T NP_001394855.1:p.Pro1768Leu missense NM_001407927.1:c.5300C>T NP_001394856.1:p.Pro1767Leu missense NM_001407928.1:c.5300C>T NP_001394857.1:p.Pro1767Leu missense NM_001407929.1:c.5300C>T NP_001394858.1:p.Pro1767Leu missense NM_001407930.1:c.5300C>T NP_001394859.1:p.Pro1767Leu missense NM_001407931.1:c.5300C>T NP_001394860.1:p.Pro1767Leu missense NM_001407932.1:c.5300C>T NP_001394861.1:p.Pro1767Leu missense NM_001407933.1:c.5300C>T NP_001394862.1:p.Pro1767Leu missense NM_001407934.1:c.5297C>T NP_001394863.1:p.Pro1766Leu missense NM_001407935.1:c.5297C>T NP_001394864.1:p.Pro1766Leu missense NM_001407936.1:c.5297C>T NP_001394865.1:p.Pro1766Leu missense NM_001407937.1:c.*81C>T NM_001407938.1:c.*81C>T NM_001407939.1:c.*81C>T NM_001407940.1:c.*81C>T NM_001407941.1:c.*81C>T NM_001407942.1:c.*81C>T NM_001407943.1:c.*81C>T NM_001407944.1:c.*81C>T NM_001407945.1:c.*81C>T NM_001407946.1:c.5234C>T NP_001394875.1:p.Pro1745Leu missense NM_001407947.1:c.5234C>T NP_001394876.1:p.Pro1745Leu missense NM_001407948.1:c.5234C>T NP_001394877.1:p.Pro1745Leu missense NM_001407949.1:c.5234C>T NP_001394878.1:p.Pro1745Leu missense NM_001407950.1:c.5231C>T NP_001394879.1:p.Pro1744Leu missense NM_001407951.1:c.5231C>T NP_001394880.1:p.Pro1744Leu missense NM_001407952.1:c.5231C>T NP_001394881.1:p.Pro1744Leu missense NM_001407953.1:c.5231C>T NP_001394882.1:p.Pro1744Leu missense NM_001407954.1:c.5231C>T NP_001394883.1:p.Pro1744Leu missense NM_001407955.1:c.5231C>T NP_001394884.1:p.Pro1744Leu missense NM_001407956.1:c.5228C>T NP_001394885.1:p.Pro1743Leu missense NM_001407957.1:c.5228C>T NP_001394886.1:p.Pro1743Leu missense NM_001407958.1:c.5228C>T NP_001394887.1:p.Pro1743Leu missense NM_001407959.1:c.5186C>T NP_001394888.1:p.Pro1729Leu missense NM_001407960.1:c.5183C>T NP_001394889.1:p.Pro1728Leu missense NM_001407962.1:c.5183C>T NP_001394891.1:p.Pro1728Leu missense NM_001407963.1:c.5180C>T NP_001394892.1:p.Pro1727Leu missense NM_001407964.1:c.5105C>T NP_001394893.1:p.Pro1702Leu missense NM_001407965.1:c.5060C>T NP_001394894.1:p.Pro1687Leu missense NM_001407966.1:c.4679C>T NP_001394895.1:p.Pro1560Leu missense NM_001407967.1:c.4676C>T NP_001394896.1:p.Pro1559Leu missense NM_001407968.1:c.2963C>T NP_001394897.1:p.Pro988Leu missense NM_001407969.1:c.2960C>T NP_001394898.1:p.Pro987Leu missense NM_001407970.1:c.2324C>T NP_001394899.1:p.Pro775Leu missense NM_001407971.1:c.2324C>T NP_001394900.1:p.Pro775Leu missense NM_001407972.1:c.2321C>T NP_001394901.1:p.Pro774Leu missense NM_001407973.1:c.2258C>T NP_001394902.1:p.Pro753Leu missense NM_001407974.1:c.2258C>T NP_001394903.1:p.Pro753Leu missense NM_001407975.1:c.2258C>T NP_001394904.1:p.Pro753Leu missense NM_001407976.1:c.2258C>T NP_001394905.1:p.Pro753Leu missense NM_001407977.1:c.2258C>T NP_001394906.1:p.Pro753Leu missense NM_001407978.1:c.2258C>T NP_001394907.1:p.Pro753Leu missense NM_001407979.1:c.2255C>T NP_001394908.1:p.Pro752Leu missense NM_001407980.1:c.2255C>T NP_001394909.1:p.Pro752Leu missense NM_001407981.1:c.2255C>T NP_001394910.1:p.Pro752Leu missense NM_001407982.1:c.2255C>T NP_001394911.1:p.Pro752Leu missense NM_001407983.1:c.2255C>T NP_001394912.1:p.Pro752Leu missense NM_001407984.1:c.2255C>T NP_001394913.1:p.Pro752Leu missense NM_001407985.1:c.2255C>T NP_001394914.1:p.Pro752Leu missense NM_001407986.1:c.2255C>T NP_001394915.1:p.Pro752Leu missense NM_001407990.1:c.2255C>T NP_001394919.1:p.Pro752Leu missense NM_001407991.1:c.2255C>T NP_001394920.1:p.Pro752Leu missense NM_001407992.1:c.2255C>T NP_001394921.1:p.Pro752Leu missense NM_001407993.1:c.2255C>T NP_001394922.1:p.Pro752Leu missense NM_001408392.1:c.2252C>T NP_001395321.1:p.Pro751Leu missense NM_001408396.1:c.2252C>T NP_001395325.1:p.Pro751Leu missense NM_001408397.1:c.2252C>T NP_001395326.1:p.Pro751Leu missense NM_001408398.1:c.2252C>T NP_001395327.1:p.Pro751Leu missense NM_001408399.1:c.2252C>T NP_001395328.1:p.Pro751Leu missense NM_001408400.1:c.2252C>T NP_001395329.1:p.Pro751Leu missense NM_001408401.1:c.2252C>T NP_001395330.1:p.Pro751Leu missense NM_001408402.1:c.2252C>T NP_001395331.1:p.Pro751Leu missense NM_001408403.1:c.2252C>T NP_001395332.1:p.Pro751Leu missense NM_001408404.1:c.2252C>T NP_001395333.1:p.Pro751Leu missense NM_001408406.1:c.2249C>T NP_001395335.1:p.Pro750Leu missense NM_001408407.1:c.2249C>T NP_001395336.1:p.Pro750Leu missense NM_001408408.1:c.2249C>T NP_001395337.1:p.Pro750Leu missense NM_001408409.1:c.2246C>T NP_001395338.1:p.Pro749Leu missense NM_001408410.1:c.2183C>T NP_001395339.1:p.Pro728Leu missense NM_001408411.1:c.2180C>T NP_001395340.1:p.Pro727Leu missense NM_001408412.1:c.2177C>T NP_001395341.1:p.Pro726Leu missense NM_001408413.1:c.2177C>T NP_001395342.1:p.Pro726Leu missense NM_001408414.1:c.2177C>T NP_001395343.1:p.Pro726Leu missense NM_001408415.1:c.2177C>T NP_001395344.1:p.Pro726Leu missense NM_001408416.1:c.2177C>T NP_001395345.1:p.Pro726Leu missense NM_001408418.1:c.2141C>T NP_001395347.1:p.Pro714Leu missense NM_001408419.1:c.2141C>T NP_001395348.1:p.Pro714Leu missense NM_001408420.1:c.2141C>T NP_001395349.1:p.Pro714Leu missense NM_001408421.1:c.2138C>T NP_001395350.1:p.Pro713Leu missense NM_001408422.1:c.2138C>T NP_001395351.1:p.Pro713Leu missense NM_001408423.1:c.2138C>T NP_001395352.1:p.Pro713Leu missense NM_001408424.1:c.2138C>T NP_001395353.1:p.Pro713Leu missense NM_001408425.1:c.2135C>T NP_001395354.1:p.Pro712Leu missense NM_001408426.1:c.2135C>T NP_001395355.1:p.Pro712Leu missense NM_001408427.1:c.2135C>T NP_001395356.1:p.Pro712Leu missense NM_001408428.1:c.2135C>T NP_001395357.1:p.Pro712Leu missense NM_001408429.1:c.2135C>T NP_001395358.1:p.Pro712Leu missense NM_001408430.1:c.2135C>T NP_001395359.1:p.Pro712Leu missense NM_001408431.1:c.2135C>T NP_001395360.1:p.Pro712Leu missense NM_001408432.1:c.2132C>T NP_001395361.1:p.Pro711Leu missense NM_001408433.1:c.2132C>T NP_001395362.1:p.Pro711Leu missense NM_001408434.1:c.2132C>T NP_001395363.1:p.Pro711Leu missense NM_001408435.1:c.2132C>T NP_001395364.1:p.Pro711Leu missense NM_001408436.1:c.2132C>T NP_001395365.1:p.Pro711Leu missense NM_001408437.1:c.2132C>T NP_001395366.1:p.Pro711Leu missense NM_001408438.1:c.2132C>T NP_001395367.1:p.Pro711Leu missense NM_001408439.1:c.2132C>T NP_001395368.1:p.Pro711Leu missense NM_001408440.1:c.2132C>T NP_001395369.1:p.Pro711Leu missense NM_001408441.1:c.2132C>T NP_001395370.1:p.Pro711Leu missense NM_001408442.1:c.2132C>T NP_001395371.1:p.Pro711Leu missense NM_001408443.1:c.2132C>T NP_001395372.1:p.Pro711Leu missense NM_001408444.1:c.2132C>T NP_001395373.1:p.Pro711Leu missense NM_001408445.1:c.2129C>T NP_001395374.1:p.Pro710Leu missense NM_001408446.1:c.2129C>T NP_001395375.1:p.Pro710Leu missense NM_001408447.1:c.2129C>T NP_001395376.1:p.Pro710Leu missense NM_001408448.1:c.2129C>T NP_001395377.1:p.Pro710Leu missense NM_001408450.1:c.2129C>T NP_001395379.1:p.Pro710Leu missense NM_001408451.1:c.2123C>T NP_001395380.1:p.Pro708Leu missense NM_001408452.1:c.2117C>T NP_001395381.1:p.Pro706Leu missense NM_001408453.1:c.2117C>T NP_001395382.1:p.Pro706Leu missense NM_001408454.1:c.2117C>T NP_001395383.1:p.Pro706Leu missense NM_001408455.1:c.2117C>T NP_001395384.1:p.Pro706Leu missense NM_001408456.1:c.2117C>T NP_001395385.1:p.Pro706Leu missense NM_001408457.1:c.2117C>T NP_001395386.1:p.Pro706Leu missense NM_001408458.1:c.2114C>T NP_001395387.1:p.Pro705Leu missense NM_001408459.1:c.2114C>T NP_001395388.1:p.Pro705Leu missense NM_001408460.1:c.2114C>T NP_001395389.1:p.Pro705Leu missense NM_001408461.1:c.2114C>T NP_001395390.1:p.Pro705Leu missense NM_001408462.1:c.2114C>T NP_001395391.1:p.Pro705Leu missense NM_001408463.1:c.2114C>T NP_001395392.1:p.Pro705Leu missense NM_001408464.1:c.2114C>T NP_001395393.1:p.Pro705Leu missense NM_001408465.1:c.2114C>T NP_001395394.1:p.Pro705Leu missense NM_001408466.1:c.2114C>T NP_001395395.1:p.Pro705Leu missense NM_001408467.1:c.2114C>T NP_001395396.1:p.Pro705Leu missense NM_001408468.1:c.2111C>T NP_001395397.1:p.Pro704Leu missense NM_001408469.1:c.2111C>T NP_001395398.1:p.Pro704Leu missense NM_001408470.1:c.2111C>T NP_001395399.1:p.Pro704Leu missense NM_001408472.1:c.*81C>T NM_001408473.1:c.*81C>T NM_001408474.1:c.2057C>T NP_001395403.1:p.Pro686Leu missense NM_001408475.1:c.2054C>T NP_001395404.1:p.Pro685Leu missense NM_001408476.1:c.2054C>T NP_001395405.1:p.Pro685Leu missense NM_001408478.1:c.2048C>T NP_001395407.1:p.Pro683Leu missense NM_001408479.1:c.2048C>T NP_001395408.1:p.Pro683Leu missense NM_001408480.1:c.2048C>T NP_001395409.1:p.Pro683Leu missense NM_001408481.1:c.2045C>T NP_001395410.1:p.Pro682Leu missense NM_001408482.1:c.2045C>T NP_001395411.1:p.Pro682Leu missense NM_001408483.1:c.2045C>T NP_001395412.1:p.Pro682Leu missense NM_001408484.1:c.2045C>T NP_001395413.1:p.Pro682Leu missense NM_001408485.1:c.2045C>T NP_001395414.1:p.Pro682Leu missense NM_001408489.1:c.2045C>T NP_001395418.1:p.Pro682Leu missense NM_001408490.1:c.2045C>T NP_001395419.1:p.Pro682Leu missense NM_001408491.1:c.2045C>T NP_001395420.1:p.Pro682Leu missense NM_001408492.1:c.2042C>T NP_001395421.1:p.Pro681Leu missense NM_001408493.1:c.2042C>T NP_001395422.1:p.Pro681Leu missense NM_001408494.1:c.2018C>T NP_001395423.1:p.Pro673Leu missense NM_001408495.1:c.2012C>T NP_001395424.1:p.Pro671Leu missense NM_001408496.1:c.1994C>T NP_001395425.1:p.Pro665Leu missense NM_001408497.1:c.1994C>T NP_001395426.1:p.Pro665Leu missense NM_001408498.1:c.1994C>T NP_001395427.1:p.Pro665Leu missense NM_001408499.1:c.1994C>T NP_001395428.1:p.Pro665Leu missense NM_001408500.1:c.1994C>T NP_001395429.1:p.Pro665Leu missense NM_001408501.1:c.1994C>T NP_001395430.1:p.Pro665Leu missense NM_001408502.1:c.1991C>T NP_001395431.1:p.Pro664Leu missense NM_001408503.1:c.1991C>T NP_001395432.1:p.Pro664Leu missense NM_001408504.1:c.1991C>T NP_001395433.1:p.Pro664Leu missense NM_001408505.1:c.1988C>T NP_001395434.1:p.Pro663Leu missense NM_001408506.1:c.1931C>T NP_001395435.1:p.Pro644Leu missense NM_001408507.1:c.1928C>T NP_001395436.1:p.Pro643Leu missense NM_001408508.1:c.1919C>T NP_001395437.1:p.Pro640Leu missense NM_001408509.1:c.1916C>T NP_001395438.1:p.Pro639Leu missense NM_001408510.1:c.1877C>T NP_001395439.1:p.Pro626Leu missense NM_001408511.1:c.1874C>T NP_001395440.1:p.Pro625Leu missense NM_001408512.1:c.1754C>T NP_001395441.1:p.Pro585Leu missense NM_001408513.1:c.1727C>T NP_001395442.1:p.Pro576Leu missense NM_001408514.1:c.1331C>T NP_001395443.1:p.Pro444Leu missense NM_007297.4:c.5426C>T NP_009228.2:p.Pro1809Leu missense NM_007298.4:c.2255C>T NP_009229.2:p.Pro752Leu missense NM_007299.4:c.*81C>T 3 prime UTR NM_007300.4:c.5630C>T NP_009231.2:p.Pro1877Leu missense NM_007304.2:c.2255C>T NP_009235.2:p.Pro752Leu missense NR_027676.2:n.5744C>T non-coding transcript variant NC_000017.11:g.43045703G>A NC_000017.10:g.41197720G>A NG_005905.2:g.172281C>T LRG_292:g.172281C>T LRG_292t1:c.5567C>T LRG_292p1:p.Pro1856Leu - Protein change
- P1856L, P1877L, P752L, P1809L, P1560L, P1727L, P1766L, P1767L, P1784L, P1785L, P1786L, P1828L, P1830L, P585L, P625L, P626L, P683L, P705L, P706L, P708L, P710L, P712L, P713L, P726L, P750L, P774L, P988L, P1729L, P1743L, P1787L, P1815L, P1837L, P1853L, P1878L, P444L, P639L, P664L, P682L, P685L, P749L, P987L, P1559L, P1702L, P1728L, P1745L, P1768L, P1772L, P1788L, P1808L, P1814L, P1836L, P576L, P643L, P663L, P665L, P673L, P681L, P686L, P711L, P751L, P1687L, P1744L, P1789L, P1807L, P1812L, P1813L, P1829L, P1851L, P1852L, P1854L, P1855L, P1876L, P640L, P644L, P671L, P704L, P714L, P727L, P728L, P753L, P775L
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045702:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12880 | 14665 |
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
|
Jun 27, 2019 | RCV001180725.3 |
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. |
|
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Uncertain significance
(Jun 27, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001345723.1
First in ClinVar: Jun 22, 2020 Last updated: Jun 22, 2020 |
|
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 rs2050857212 ...
HelpRecord last updated Dec 25, 2023
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.