ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5554A>C (p.Thr1852Pro)
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.5554A>C (p.Thr1852Pro)
Variation ID: 869039 Accession: VCV000869039.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43045716 (GRCh38) [ NCBI UCSC ] 17: 41197733 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5554A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1852Pro missense NM_001407571.1:c.5341A>C NP_001394500.1:p.Thr1781Pro missense NM_001407581.1:c.5620A>C NP_001394510.1:p.Thr1874Pro missense NM_001407582.1:c.5620A>C NP_001394511.1:p.Thr1874Pro missense NM_001407583.1:c.5617A>C NP_001394512.1:p.Thr1873Pro missense NM_001407585.1:c.5617A>C NP_001394514.1:p.Thr1873Pro missense NM_001407587.1:c.5617A>C NP_001394516.1:p.Thr1873Pro missense NM_001407590.1:c.5614A>C NP_001394519.1:p.Thr1872Pro missense NM_001407591.1:c.5614A>C NP_001394520.1:p.Thr1872Pro missense NM_001407593.1:c.5554A>C NP_001394522.1:p.Thr1852Pro missense NM_001407594.1:c.5554A>C NP_001394523.1:p.Thr1852Pro missense NM_001407596.1:c.5554A>C NP_001394525.1:p.Thr1852Pro missense NM_001407597.1:c.5554A>C NP_001394526.1:p.Thr1852Pro missense NM_001407598.1:c.5554A>C NP_001394527.1:p.Thr1852Pro missense NM_001407602.1:c.5554A>C NP_001394531.1:p.Thr1852Pro missense NM_001407603.1:c.5554A>C NP_001394532.1:p.Thr1852Pro missense NM_001407605.1:c.5554A>C NP_001394534.1:p.Thr1852Pro missense NM_001407610.1:c.5551A>C NP_001394539.1:p.Thr1851Pro missense NM_001407611.1:c.5551A>C NP_001394540.1:p.Thr1851Pro missense NM_001407612.1:c.5551A>C NP_001394541.1:p.Thr1851Pro missense NM_001407613.1:c.5551A>C NP_001394542.1:p.Thr1851Pro missense NM_001407614.1:c.5551A>C NP_001394543.1:p.Thr1851Pro missense NM_001407615.1:c.5551A>C NP_001394544.1:p.Thr1851Pro missense NM_001407616.1:c.5551A>C NP_001394545.1:p.Thr1851Pro missense NM_001407617.1:c.5551A>C NP_001394546.1:p.Thr1851Pro missense NM_001407618.1:c.5551A>C NP_001394547.1:p.Thr1851Pro missense NM_001407619.1:c.5551A>C NP_001394548.1:p.Thr1851Pro missense NM_001407620.1:c.5551A>C NP_001394549.1:p.Thr1851Pro missense NM_001407621.1:c.5551A>C NP_001394550.1:p.Thr1851Pro missense NM_001407622.1:c.5551A>C NP_001394551.1:p.Thr1851Pro missense NM_001407623.1:c.5551A>C NP_001394552.1:p.Thr1851Pro missense NM_001407624.1:c.5551A>C NP_001394553.1:p.Thr1851Pro missense NM_001407625.1:c.5551A>C NP_001394554.1:p.Thr1851Pro missense NM_001407626.1:c.5551A>C NP_001394555.1:p.Thr1851Pro missense NM_001407627.1:c.5548A>C NP_001394556.1:p.Thr1850Pro missense NM_001407628.1:c.5548A>C NP_001394557.1:p.Thr1850Pro missense NM_001407629.1:c.5548A>C NP_001394558.1:p.Thr1850Pro missense NM_001407630.1:c.5548A>C NP_001394559.1:p.Thr1850Pro missense NM_001407631.1:c.5548A>C NP_001394560.1:p.Thr1850Pro missense NM_001407632.1:c.5548A>C NP_001394561.1:p.Thr1850Pro missense NM_001407633.1:c.5548A>C NP_001394562.1:p.Thr1850Pro missense NM_001407634.1:c.5548A>C NP_001394563.1:p.Thr1850Pro missense NM_001407635.1:c.5548A>C NP_001394564.1:p.Thr1850Pro missense NM_001407636.1:c.5548A>C NP_001394565.1:p.Thr1850Pro missense NM_001407637.1:c.5548A>C NP_001394566.1:p.Thr1850Pro missense NM_001407638.1:c.5548A>C NP_001394567.1:p.Thr1850Pro missense NM_001407639.1:c.5548A>C NP_001394568.1:p.Thr1850Pro missense NM_001407640.1:c.5548A>C NP_001394569.1:p.Thr1850Pro missense NM_001407641.1:c.5548A>C NP_001394570.1:p.Thr1850Pro missense NM_001407642.1:c.5548A>C NP_001394571.1:p.Thr1850Pro missense NM_001407644.1:c.5545A>C NP_001394573.1:p.Thr1849Pro missense NM_001407645.1:c.5545A>C NP_001394574.1:p.Thr1849Pro missense NM_001407646.1:c.5542A>C NP_001394575.1:p.Thr1848Pro missense NM_001407647.1:c.5539A>C NP_001394576.1:p.Thr1847Pro missense NM_001407648.1:c.5497A>C NP_001394577.1:p.Thr1833Pro missense NM_001407649.1:c.5494A>C NP_001394578.1:p.Thr1832Pro missense NM_001407652.1:c.5476A>C NP_001394581.1:p.Thr1826Pro missense NM_001407653.1:c.5476A>C NP_001394582.1:p.Thr1826Pro missense NM_001407654.1:c.5476A>C NP_001394583.1:p.Thr1826Pro missense NM_001407655.1:c.5476A>C NP_001394584.1:p.Thr1826Pro missense NM_001407656.1:c.5473A>C NP_001394585.1:p.Thr1825Pro missense NM_001407657.1:c.5473A>C NP_001394586.1:p.Thr1825Pro missense NM_001407658.1:c.5473A>C NP_001394587.1:p.Thr1825Pro missense NM_001407659.1:c.5470A>C NP_001394588.1:p.Thr1824Pro missense NM_001407660.1:c.5470A>C NP_001394589.1:p.Thr1824Pro missense NM_001407661.1:c.5470A>C NP_001394590.1:p.Thr1824Pro missense NM_001407662.1:c.5470A>C NP_001394591.1:p.Thr1824Pro missense NM_001407663.1:c.5470A>C NP_001394592.1:p.Thr1824Pro missense NM_001407664.1:c.5431A>C NP_001394593.1:p.Thr1811Pro missense NM_001407665.1:c.5431A>C NP_001394594.1:p.Thr1811Pro missense NM_001407666.1:c.5431A>C NP_001394595.1:p.Thr1811Pro missense NM_001407667.1:c.5431A>C NP_001394596.1:p.Thr1811Pro missense NM_001407668.1:c.5431A>C NP_001394597.1:p.Thr1811Pro missense NM_001407669.1:c.5431A>C NP_001394598.1:p.Thr1811Pro missense NM_001407670.1:c.5428A>C NP_001394599.1:p.Thr1810Pro missense NM_001407671.1:c.5428A>C NP_001394600.1:p.Thr1810Pro missense NM_001407672.1:c.5428A>C NP_001394601.1:p.Thr1810Pro missense NM_001407673.1:c.5428A>C NP_001394602.1:p.Thr1810Pro missense NM_001407674.1:c.5428A>C NP_001394603.1:p.Thr1810Pro missense NM_001407675.1:c.5428A>C NP_001394604.1:p.Thr1810Pro missense NM_001407676.1:c.5428A>C NP_001394605.1:p.Thr1810Pro missense NM_001407677.1:c.5428A>C NP_001394606.1:p.Thr1810Pro missense NM_001407678.1:c.5428A>C NP_001394607.1:p.Thr1810Pro missense NM_001407679.1:c.5428A>C NP_001394608.1:p.Thr1810Pro missense NM_001407680.1:c.5428A>C NP_001394609.1:p.Thr1810Pro missense NM_001407681.1:c.5425A>C NP_001394610.1:p.Thr1809Pro missense NM_001407682.1:c.5425A>C NP_001394611.1:p.Thr1809Pro missense NM_001407683.1:c.5425A>C NP_001394612.1:p.Thr1809Pro missense NM_001407684.1:c.5425A>C NP_001394613.1:p.Thr1809Pro missense NM_001407685.1:c.5425A>C NP_001394614.1:p.Thr1809Pro missense NM_001407686.1:c.5425A>C NP_001394615.1:p.Thr1809Pro missense NM_001407687.1:c.5425A>C NP_001394616.1:p.Thr1809Pro missense NM_001407688.1:c.5425A>C NP_001394617.1:p.Thr1809Pro missense NM_001407689.1:c.5425A>C NP_001394618.1:p.Thr1809Pro missense NM_001407690.1:c.5422A>C NP_001394619.1:p.Thr1808Pro missense NM_001407691.1:c.5422A>C NP_001394620.1:p.Thr1808Pro missense NM_001407692.1:c.5413A>C NP_001394621.1:p.Thr1805Pro missense NM_001407694.1:c.5413A>C NP_001394623.1:p.Thr1805Pro missense NM_001407695.1:c.5413A>C NP_001394624.1:p.Thr1805Pro missense NM_001407696.1:c.5413A>C NP_001394625.1:p.Thr1805Pro missense NM_001407697.1:c.5413A>C NP_001394626.1:p.Thr1805Pro missense NM_001407698.1:c.5413A>C NP_001394627.1:p.Thr1805Pro missense NM_001407724.1:c.5413A>C NP_001394653.1:p.Thr1805Pro missense NM_001407725.1:c.5413A>C NP_001394654.1:p.Thr1805Pro missense NM_001407726.1:c.5413A>C NP_001394655.1:p.Thr1805Pro missense NM_001407727.1:c.5413A>C NP_001394656.1:p.Thr1805Pro missense NM_001407728.1:c.5413A>C NP_001394657.1:p.Thr1805Pro missense NM_001407729.1:c.5413A>C NP_001394658.1:p.Thr1805Pro missense NM_001407730.1:c.5413A>C NP_001394659.1:p.Thr1805Pro missense NM_001407731.1:c.5413A>C NP_001394660.1:p.Thr1805Pro missense NM_001407732.1:c.5410A>C NP_001394661.1:p.Thr1804Pro missense NM_001407733.1:c.5410A>C NP_001394662.1:p.Thr1804Pro missense NM_001407734.1:c.5410A>C NP_001394663.1:p.Thr1804Pro missense NM_001407735.1:c.5410A>C NP_001394664.1:p.Thr1804Pro missense NM_001407736.1:c.5410A>C NP_001394665.1:p.Thr1804Pro missense NM_001407737.1:c.5410A>C NP_001394666.1:p.Thr1804Pro missense NM_001407738.1:c.5410A>C NP_001394667.1:p.Thr1804Pro missense NM_001407739.1:c.5410A>C NP_001394668.1:p.Thr1804Pro missense NM_001407740.1:c.5410A>C NP_001394669.1:p.Thr1804Pro missense NM_001407741.1:c.5410A>C NP_001394670.1:p.Thr1804Pro missense NM_001407742.1:c.5410A>C NP_001394671.1:p.Thr1804Pro missense NM_001407743.1:c.5410A>C NP_001394672.1:p.Thr1804Pro missense NM_001407744.1:c.5410A>C NP_001394673.1:p.Thr1804Pro missense NM_001407745.1:c.5410A>C NP_001394674.1:p.Thr1804Pro missense NM_001407746.1:c.5410A>C NP_001394675.1:p.Thr1804Pro missense NM_001407747.1:c.5410A>C NP_001394676.1:p.Thr1804Pro missense NM_001407748.1:c.5410A>C NP_001394677.1:p.Thr1804Pro missense NM_001407749.1:c.5410A>C NP_001394678.1:p.Thr1804Pro missense NM_001407750.1:c.5410A>C NP_001394679.1:p.Thr1804Pro missense NM_001407751.1:c.5410A>C NP_001394680.1:p.Thr1804Pro missense NM_001407752.1:c.5410A>C NP_001394681.1:p.Thr1804Pro missense NM_001407838.1:c.5407A>C NP_001394767.1:p.Thr1803Pro missense NM_001407839.1:c.5407A>C NP_001394768.1:p.Thr1803Pro missense NM_001407841.1:c.5407A>C NP_001394770.1:p.Thr1803Pro missense NM_001407842.1:c.5407A>C NP_001394771.1:p.Thr1803Pro missense NM_001407843.1:c.5407A>C NP_001394772.1:p.Thr1803Pro missense NM_001407844.1:c.5407A>C NP_001394773.1:p.Thr1803Pro missense NM_001407845.1:c.5407A>C NP_001394774.1:p.Thr1803Pro missense NM_001407846.1:c.5407A>C NP_001394775.1:p.Thr1803Pro missense NM_001407847.1:c.5407A>C NP_001394776.1:p.Thr1803Pro missense NM_001407848.1:c.5407A>C NP_001394777.1:p.Thr1803Pro missense NM_001407849.1:c.5407A>C NP_001394778.1:p.Thr1803Pro missense NM_001407850.1:c.5407A>C NP_001394779.1:p.Thr1803Pro missense NM_001407851.1:c.5407A>C NP_001394780.1:p.Thr1803Pro missense NM_001407852.1:c.5407A>C NP_001394781.1:p.Thr1803Pro missense NM_001407853.1:c.5407A>C NP_001394782.1:p.Thr1803Pro missense NM_001407854.1:c.*68A>C NM_001407858.1:c.*68A>C NM_001407859.1:c.*68A>C NM_001407860.1:c.*68A>C NM_001407861.1:c.*68A>C NM_001407862.1:c.5353A>C NP_001394791.1:p.Thr1785Pro missense NM_001407863.1:c.5350A>C NP_001394792.1:p.Thr1784Pro missense NM_001407874.1:c.5347A>C NP_001394803.1:p.Thr1783Pro missense NM_001407875.1:c.5347A>C NP_001394804.1:p.Thr1783Pro missense NM_001407879.1:c.5344A>C NP_001394808.1:p.Thr1782Pro missense NM_001407881.1:c.5344A>C NP_001394810.1:p.Thr1782Pro missense NM_001407882.1:c.5344A>C NP_001394811.1:p.Thr1782Pro missense NM_001407884.1:c.5344A>C NP_001394813.1:p.Thr1782Pro missense NM_001407885.1:c.5344A>C NP_001394814.1:p.Thr1782Pro missense NM_001407886.1:c.5344A>C NP_001394815.1:p.Thr1782Pro missense NM_001407887.1:c.5344A>C NP_001394816.1:p.Thr1782Pro missense NM_001407889.1:c.5344A>C NP_001394818.1:p.Thr1782Pro missense NM_001407894.1:c.5341A>C NP_001394823.1:p.Thr1781Pro missense NM_001407895.1:c.5341A>C NP_001394824.1:p.Thr1781Pro missense NM_001407896.1:c.5341A>C NP_001394825.1:p.Thr1781Pro missense NM_001407897.1:c.5341A>C NP_001394826.1:p.Thr1781Pro missense NM_001407898.1:c.5341A>C NP_001394827.1:p.Thr1781Pro missense NM_001407899.1:c.5341A>C NP_001394828.1:p.Thr1781Pro missense NM_001407900.1:c.5341A>C NP_001394829.1:p.Thr1781Pro missense NM_001407902.1:c.5341A>C NP_001394831.1:p.Thr1781Pro missense NM_001407904.1:c.5341A>C NP_001394833.1:p.Thr1781Pro missense NM_001407906.1:c.5341A>C NP_001394835.1:p.Thr1781Pro missense NM_001407907.1:c.5341A>C NP_001394836.1:p.Thr1781Pro missense NM_001407908.1:c.5341A>C NP_001394837.1:p.Thr1781Pro missense NM_001407909.1:c.5341A>C NP_001394838.1:p.Thr1781Pro missense NM_001407910.1:c.5341A>C NP_001394839.1:p.Thr1781Pro missense NM_001407915.1:c.5338A>C NP_001394844.1:p.Thr1780Pro missense NM_001407916.1:c.5338A>C NP_001394845.1:p.Thr1780Pro missense NM_001407917.1:c.5338A>C NP_001394846.1:p.Thr1780Pro missense NM_001407918.1:c.5338A>C NP_001394847.1:p.Thr1780Pro missense NM_001407919.1:c.5302A>C NP_001394848.1:p.Thr1768Pro missense NM_001407920.1:c.5290A>C NP_001394849.1:p.Thr1764Pro missense NM_001407921.1:c.5290A>C NP_001394850.1:p.Thr1764Pro missense NM_001407922.1:c.5290A>C NP_001394851.1:p.Thr1764Pro missense NM_001407923.1:c.5290A>C NP_001394852.1:p.Thr1764Pro missense NM_001407924.1:c.5290A>C NP_001394853.1:p.Thr1764Pro missense NM_001407925.1:c.5290A>C NP_001394854.1:p.Thr1764Pro missense NM_001407926.1:c.5290A>C NP_001394855.1:p.Thr1764Pro missense NM_001407927.1:c.5287A>C NP_001394856.1:p.Thr1763Pro missense NM_001407928.1:c.5287A>C NP_001394857.1:p.Thr1763Pro missense NM_001407929.1:c.5287A>C NP_001394858.1:p.Thr1763Pro missense NM_001407930.1:c.5287A>C NP_001394859.1:p.Thr1763Pro missense NM_001407931.1:c.5287A>C NP_001394860.1:p.Thr1763Pro missense NM_001407932.1:c.5287A>C NP_001394861.1:p.Thr1763Pro missense NM_001407933.1:c.5287A>C NP_001394862.1:p.Thr1763Pro missense NM_001407934.1:c.5284A>C NP_001394863.1:p.Thr1762Pro missense NM_001407935.1:c.5284A>C NP_001394864.1:p.Thr1762Pro missense NM_001407936.1:c.5284A>C NP_001394865.1:p.Thr1762Pro missense NM_001407937.1:c.*68A>C NM_001407938.1:c.*68A>C NM_001407939.1:c.*68A>C NM_001407940.1:c.*68A>C NM_001407941.1:c.*68A>C NM_001407942.1:c.*68A>C NM_001407943.1:c.*68A>C NM_001407944.1:c.*68A>C NM_001407945.1:c.*68A>C NM_001407946.1:c.5221A>C NP_001394875.1:p.Thr1741Pro missense NM_001407947.1:c.5221A>C NP_001394876.1:p.Thr1741Pro missense NM_001407948.1:c.5221A>C NP_001394877.1:p.Thr1741Pro missense NM_001407949.1:c.5221A>C NP_001394878.1:p.Thr1741Pro missense NM_001407950.1:c.5218A>C NP_001394879.1:p.Thr1740Pro missense NM_001407951.1:c.5218A>C NP_001394880.1:p.Thr1740Pro missense NM_001407952.1:c.5218A>C NP_001394881.1:p.Thr1740Pro missense NM_001407953.1:c.5218A>C NP_001394882.1:p.Thr1740Pro missense NM_001407954.1:c.5218A>C NP_001394883.1:p.Thr1740Pro missense NM_001407955.1:c.5218A>C NP_001394884.1:p.Thr1740Pro missense NM_001407956.1:c.5215A>C NP_001394885.1:p.Thr1739Pro missense NM_001407957.1:c.5215A>C NP_001394886.1:p.Thr1739Pro missense NM_001407958.1:c.5215A>C NP_001394887.1:p.Thr1739Pro missense NM_001407959.1:c.5173A>C NP_001394888.1:p.Thr1725Pro missense NM_001407960.1:c.5170A>C NP_001394889.1:p.Thr1724Pro missense NM_001407962.1:c.5170A>C NP_001394891.1:p.Thr1724Pro missense NM_001407963.1:c.5167A>C NP_001394892.1:p.Thr1723Pro missense NM_001407964.1:c.5092A>C NP_001394893.1:p.Thr1698Pro missense NM_001407965.1:c.5047A>C NP_001394894.1:p.Thr1683Pro missense NM_001407966.1:c.4666A>C NP_001394895.1:p.Thr1556Pro missense NM_001407967.1:c.4663A>C NP_001394896.1:p.Thr1555Pro missense NM_001407968.1:c.2950A>C NP_001394897.1:p.Thr984Pro missense NM_001407969.1:c.2947A>C NP_001394898.1:p.Thr983Pro missense NM_001407970.1:c.2311A>C NP_001394899.1:p.Thr771Pro missense NM_001407971.1:c.2311A>C NP_001394900.1:p.Thr771Pro missense NM_001407972.1:c.2308A>C NP_001394901.1:p.Thr770Pro missense NM_001407973.1:c.2245A>C NP_001394902.1:p.Thr749Pro missense NM_001407974.1:c.2245A>C NP_001394903.1:p.Thr749Pro missense NM_001407975.1:c.2245A>C NP_001394904.1:p.Thr749Pro missense NM_001407976.1:c.2245A>C NP_001394905.1:p.Thr749Pro missense NM_001407977.1:c.2245A>C NP_001394906.1:p.Thr749Pro missense NM_001407978.1:c.2245A>C NP_001394907.1:p.Thr749Pro missense NM_001407979.1:c.2242A>C NP_001394908.1:p.Thr748Pro missense NM_001407980.1:c.2242A>C NP_001394909.1:p.Thr748Pro missense NM_001407981.1:c.2242A>C NP_001394910.1:p.Thr748Pro missense NM_001407982.1:c.2242A>C NP_001394911.1:p.Thr748Pro missense NM_001407983.1:c.2242A>C NP_001394912.1:p.Thr748Pro missense NM_001407984.1:c.2242A>C NP_001394913.1:p.Thr748Pro missense NM_001407985.1:c.2242A>C NP_001394914.1:p.Thr748Pro missense NM_001407986.1:c.2242A>C NP_001394915.1:p.Thr748Pro missense NM_001407990.1:c.2242A>C NP_001394919.1:p.Thr748Pro missense NM_001407991.1:c.2242A>C NP_001394920.1:p.Thr748Pro missense NM_001407992.1:c.2242A>C NP_001394921.1:p.Thr748Pro missense NM_001407993.1:c.2242A>C NP_001394922.1:p.Thr748Pro missense NM_001408392.1:c.2239A>C NP_001395321.1:p.Thr747Pro missense NM_001408396.1:c.2239A>C NP_001395325.1:p.Thr747Pro missense NM_001408397.1:c.2239A>C NP_001395326.1:p.Thr747Pro missense NM_001408398.1:c.2239A>C NP_001395327.1:p.Thr747Pro missense NM_001408399.1:c.2239A>C NP_001395328.1:p.Thr747Pro missense NM_001408400.1:c.2239A>C NP_001395329.1:p.Thr747Pro missense NM_001408401.1:c.2239A>C NP_001395330.1:p.Thr747Pro missense NM_001408402.1:c.2239A>C NP_001395331.1:p.Thr747Pro missense NM_001408403.1:c.2239A>C NP_001395332.1:p.Thr747Pro missense NM_001408404.1:c.2239A>C NP_001395333.1:p.Thr747Pro missense NM_001408406.1:c.2236A>C NP_001395335.1:p.Thr746Pro missense NM_001408407.1:c.2236A>C NP_001395336.1:p.Thr746Pro missense NM_001408408.1:c.2236A>C NP_001395337.1:p.Thr746Pro missense NM_001408409.1:c.2233A>C NP_001395338.1:p.Thr745Pro missense NM_001408410.1:c.2170A>C NP_001395339.1:p.Thr724Pro missense NM_001408411.1:c.2167A>C NP_001395340.1:p.Thr723Pro missense NM_001408412.1:c.2164A>C NP_001395341.1:p.Thr722Pro missense NM_001408413.1:c.2164A>C NP_001395342.1:p.Thr722Pro missense NM_001408414.1:c.2164A>C NP_001395343.1:p.Thr722Pro missense NM_001408415.1:c.2164A>C NP_001395344.1:p.Thr722Pro missense NM_001408416.1:c.2164A>C NP_001395345.1:p.Thr722Pro missense NM_001408418.1:c.2128A>C NP_001395347.1:p.Thr710Pro missense NM_001408419.1:c.2128A>C NP_001395348.1:p.Thr710Pro missense NM_001408420.1:c.2128A>C NP_001395349.1:p.Thr710Pro missense NM_001408421.1:c.2125A>C NP_001395350.1:p.Thr709Pro missense NM_001408422.1:c.2125A>C NP_001395351.1:p.Thr709Pro missense NM_001408423.1:c.2125A>C NP_001395352.1:p.Thr709Pro missense NM_001408424.1:c.2125A>C NP_001395353.1:p.Thr709Pro missense NM_001408425.1:c.2122A>C NP_001395354.1:p.Thr708Pro missense NM_001408426.1:c.2122A>C NP_001395355.1:p.Thr708Pro missense NM_001408427.1:c.2122A>C NP_001395356.1:p.Thr708Pro missense NM_001408428.1:c.2122A>C NP_001395357.1:p.Thr708Pro missense NM_001408429.1:c.2122A>C NP_001395358.1:p.Thr708Pro missense NM_001408430.1:c.2122A>C NP_001395359.1:p.Thr708Pro missense NM_001408431.1:c.2122A>C NP_001395360.1:p.Thr708Pro missense NM_001408432.1:c.2119A>C NP_001395361.1:p.Thr707Pro missense NM_001408433.1:c.2119A>C NP_001395362.1:p.Thr707Pro missense NM_001408434.1:c.2119A>C NP_001395363.1:p.Thr707Pro missense NM_001408435.1:c.2119A>C NP_001395364.1:p.Thr707Pro missense NM_001408436.1:c.2119A>C NP_001395365.1:p.Thr707Pro missense NM_001408437.1:c.2119A>C NP_001395366.1:p.Thr707Pro missense NM_001408438.1:c.2119A>C NP_001395367.1:p.Thr707Pro missense NM_001408439.1:c.2119A>C NP_001395368.1:p.Thr707Pro missense NM_001408440.1:c.2119A>C NP_001395369.1:p.Thr707Pro missense NM_001408441.1:c.2119A>C NP_001395370.1:p.Thr707Pro missense NM_001408442.1:c.2119A>C NP_001395371.1:p.Thr707Pro missense NM_001408443.1:c.2119A>C NP_001395372.1:p.Thr707Pro missense NM_001408444.1:c.2119A>C NP_001395373.1:p.Thr707Pro missense NM_001408445.1:c.2116A>C NP_001395374.1:p.Thr706Pro missense NM_001408446.1:c.2116A>C NP_001395375.1:p.Thr706Pro missense NM_001408447.1:c.2116A>C NP_001395376.1:p.Thr706Pro missense NM_001408448.1:c.2116A>C NP_001395377.1:p.Thr706Pro missense NM_001408450.1:c.2116A>C NP_001395379.1:p.Thr706Pro missense NM_001408451.1:c.2110A>C NP_001395380.1:p.Thr704Pro missense NM_001408452.1:c.2104A>C NP_001395381.1:p.Thr702Pro missense NM_001408453.1:c.2104A>C NP_001395382.1:p.Thr702Pro missense NM_001408454.1:c.2104A>C NP_001395383.1:p.Thr702Pro missense NM_001408455.1:c.2104A>C NP_001395384.1:p.Thr702Pro missense NM_001408456.1:c.2104A>C NP_001395385.1:p.Thr702Pro missense NM_001408457.1:c.2104A>C NP_001395386.1:p.Thr702Pro missense NM_001408458.1:c.2101A>C NP_001395387.1:p.Thr701Pro missense NM_001408459.1:c.2101A>C NP_001395388.1:p.Thr701Pro missense NM_001408460.1:c.2101A>C NP_001395389.1:p.Thr701Pro missense NM_001408461.1:c.2101A>C NP_001395390.1:p.Thr701Pro missense NM_001408462.1:c.2101A>C NP_001395391.1:p.Thr701Pro missense NM_001408463.1:c.2101A>C NP_001395392.1:p.Thr701Pro missense NM_001408464.1:c.2101A>C NP_001395393.1:p.Thr701Pro missense NM_001408465.1:c.2101A>C NP_001395394.1:p.Thr701Pro missense NM_001408466.1:c.2101A>C NP_001395395.1:p.Thr701Pro missense NM_001408467.1:c.2101A>C NP_001395396.1:p.Thr701Pro missense NM_001408468.1:c.2098A>C NP_001395397.1:p.Thr700Pro missense NM_001408469.1:c.2098A>C NP_001395398.1:p.Thr700Pro missense NM_001408470.1:c.2098A>C NP_001395399.1:p.Thr700Pro missense NM_001408472.1:c.*68A>C NM_001408473.1:c.*68A>C NM_001408474.1:c.2044A>C NP_001395403.1:p.Thr682Pro missense NM_001408475.1:c.2041A>C NP_001395404.1:p.Thr681Pro missense NM_001408476.1:c.2041A>C NP_001395405.1:p.Thr681Pro missense NM_001408478.1:c.2035A>C NP_001395407.1:p.Thr679Pro missense NM_001408479.1:c.2035A>C NP_001395408.1:p.Thr679Pro missense NM_001408480.1:c.2035A>C NP_001395409.1:p.Thr679Pro missense NM_001408481.1:c.2032A>C NP_001395410.1:p.Thr678Pro missense NM_001408482.1:c.2032A>C NP_001395411.1:p.Thr678Pro missense NM_001408483.1:c.2032A>C NP_001395412.1:p.Thr678Pro missense NM_001408484.1:c.2032A>C NP_001395413.1:p.Thr678Pro missense NM_001408485.1:c.2032A>C NP_001395414.1:p.Thr678Pro missense NM_001408489.1:c.2032A>C NP_001395418.1:p.Thr678Pro missense NM_001408490.1:c.2032A>C NP_001395419.1:p.Thr678Pro missense NM_001408491.1:c.2032A>C NP_001395420.1:p.Thr678Pro missense NM_001408492.1:c.2029A>C NP_001395421.1:p.Thr677Pro missense NM_001408493.1:c.2029A>C NP_001395422.1:p.Thr677Pro missense NM_001408494.1:c.2005A>C NP_001395423.1:p.Thr669Pro missense NM_001408495.1:c.1999A>C NP_001395424.1:p.Thr667Pro missense NM_001408496.1:c.1981A>C NP_001395425.1:p.Thr661Pro missense NM_001408497.1:c.1981A>C NP_001395426.1:p.Thr661Pro missense NM_001408498.1:c.1981A>C NP_001395427.1:p.Thr661Pro missense NM_001408499.1:c.1981A>C NP_001395428.1:p.Thr661Pro missense NM_001408500.1:c.1981A>C NP_001395429.1:p.Thr661Pro missense NM_001408501.1:c.1981A>C NP_001395430.1:p.Thr661Pro missense NM_001408502.1:c.1978A>C NP_001395431.1:p.Thr660Pro missense NM_001408503.1:c.1978A>C NP_001395432.1:p.Thr660Pro missense NM_001408504.1:c.1978A>C NP_001395433.1:p.Thr660Pro missense NM_001408505.1:c.1975A>C NP_001395434.1:p.Thr659Pro missense NM_001408506.1:c.1918A>C NP_001395435.1:p.Thr640Pro missense NM_001408507.1:c.1915A>C NP_001395436.1:p.Thr639Pro missense NM_001408508.1:c.1906A>C NP_001395437.1:p.Thr636Pro missense NM_001408509.1:c.1903A>C NP_001395438.1:p.Thr635Pro missense NM_001408510.1:c.1864A>C NP_001395439.1:p.Thr622Pro missense NM_001408511.1:c.1861A>C NP_001395440.1:p.Thr621Pro missense NM_001408512.1:c.1741A>C NP_001395441.1:p.Thr581Pro missense NM_001408513.1:c.1714A>C NP_001395442.1:p.Thr572Pro missense NM_001408514.1:c.1318A>C NP_001395443.1:p.Thr440Pro missense NM_007297.4:c.5413A>C NP_009228.2:p.Thr1805Pro missense NM_007298.4:c.2242A>C NP_009229.2:p.Thr748Pro missense NM_007299.4:c.*68A>C 3 prime UTR NM_007300.4:c.5617A>C NP_009231.2:p.Thr1873Pro missense NM_007304.2:c.2242A>C NP_009235.2:p.Thr748Pro missense NR_027676.2:n.5731A>C non-coding transcript variant NC_000017.11:g.43045716T>G NC_000017.10:g.41197733T>G NG_005905.2:g.172268A>C LRG_292:g.172268A>C LRG_292t1:c.5554A>C LRG_292p1:p.Thr1852Pro - Protein change
- T1852P, T1873P, T1805P, T748P, T1683P, T1739P, T1741P, T1782P, T1783P, T1832P, T1848P, T1850P, T581P, T660P, T661P, T678P, T682P, T700P, T709P, T710P, T723P, T747P, T749P, T770P, T984P, T1698P, T1723P, T1725P, T1764P, T1780P, T1803P, T1808P, T1809P, T1810P, T1826P, T1833P, T440P, T636P, T640P, T659P, T667P, T701P, T702P, T706P, T708P, T722P, T1555P, T1556P, T1740P, T1762P, T1768P, T1781P, T1785P, T1804P, T1824P, T1849P, T622P, T639P, T746P, T983P, T1724P, T1763P, T1784P, T1811P, T1825P, T1847P, T1851P, T1872P, T1874P, T572P, T621P, T635P, T669P, T677P, T679P, T681P, T704P, T707P, T724P, T745P, T771P
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045715:T:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_normal Sequence Ontology [SO:0002219]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5554A>C, a MISSENSE variant, produced a function score of -0.07, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
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 |
12795 | 14565 |
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
|
- | RCV001078067.2 |
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. |
|
---|---|---|---|---|---|
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: SCV001244109.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.0674117123760091
|
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_normal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001244109.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5554A>C, a MISSENSE variant, produced a function score of -0.07, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5554A>C, a MISSENSE variant, produced a function score of -0.07, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
|
Citations for germline classification of this variant
HelpTitle | 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 rs1555574370 ...
HelpRecord last updated Mar 30, 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.