ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5128G>C (p.Gly1710Arg)
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.5128G>C (p.Gly1710Arg)
Variation ID: 868692 Accession: VCV000868692.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43063898 (GRCh38) [ NCBI UCSC ] 17: 41215915 (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
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5128G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1710Arg missense NM_001407571.1:c.4915G>C NP_001394500.1:p.Gly1639Arg missense NM_001407581.1:c.5194G>C NP_001394510.1:p.Gly1732Arg missense NM_001407582.1:c.5194G>C NP_001394511.1:p.Gly1732Arg missense NM_001407583.1:c.5191G>C NP_001394512.1:p.Gly1731Arg missense NM_001407585.1:c.5191G>C NP_001394514.1:p.Gly1731Arg missense NM_001407587.1:c.5191G>C NP_001394516.1:p.Gly1731Arg missense NM_001407590.1:c.5188G>C NP_001394519.1:p.Gly1730Arg missense NM_001407591.1:c.5188G>C NP_001394520.1:p.Gly1730Arg missense NM_001407593.1:c.5128G>C NP_001394522.1:p.Gly1710Arg missense NM_001407594.1:c.5128G>C NP_001394523.1:p.Gly1710Arg missense NM_001407596.1:c.5128G>C NP_001394525.1:p.Gly1710Arg missense NM_001407597.1:c.5128G>C NP_001394526.1:p.Gly1710Arg missense NM_001407598.1:c.5128G>C NP_001394527.1:p.Gly1710Arg missense NM_001407602.1:c.5128G>C NP_001394531.1:p.Gly1710Arg missense NM_001407603.1:c.5128G>C NP_001394532.1:p.Gly1710Arg missense NM_001407605.1:c.5128G>C NP_001394534.1:p.Gly1710Arg missense NM_001407610.1:c.5125G>C NP_001394539.1:p.Gly1709Arg missense NM_001407611.1:c.5125G>C NP_001394540.1:p.Gly1709Arg missense NM_001407612.1:c.5125G>C NP_001394541.1:p.Gly1709Arg missense NM_001407613.1:c.5125G>C NP_001394542.1:p.Gly1709Arg missense NM_001407614.1:c.5125G>C NP_001394543.1:p.Gly1709Arg missense NM_001407615.1:c.5125G>C NP_001394544.1:p.Gly1709Arg missense NM_001407616.1:c.5125G>C NP_001394545.1:p.Gly1709Arg missense NM_001407617.1:c.5125G>C NP_001394546.1:p.Gly1709Arg missense NM_001407618.1:c.5125G>C NP_001394547.1:p.Gly1709Arg missense NM_001407619.1:c.5125G>C NP_001394548.1:p.Gly1709Arg missense NM_001407620.1:c.5125G>C NP_001394549.1:p.Gly1709Arg missense NM_001407621.1:c.5125G>C NP_001394550.1:p.Gly1709Arg missense NM_001407622.1:c.5125G>C NP_001394551.1:p.Gly1709Arg missense NM_001407623.1:c.5125G>C NP_001394552.1:p.Gly1709Arg missense NM_001407624.1:c.5125G>C NP_001394553.1:p.Gly1709Arg missense NM_001407625.1:c.5125G>C NP_001394554.1:p.Gly1709Arg missense NM_001407626.1:c.5125G>C NP_001394555.1:p.Gly1709Arg missense NM_001407627.1:c.5122G>C NP_001394556.1:p.Gly1708Arg missense NM_001407628.1:c.5122G>C NP_001394557.1:p.Gly1708Arg missense NM_001407629.1:c.5122G>C NP_001394558.1:p.Gly1708Arg missense NM_001407630.1:c.5122G>C NP_001394559.1:p.Gly1708Arg missense NM_001407631.1:c.5122G>C NP_001394560.1:p.Gly1708Arg missense NM_001407632.1:c.5122G>C NP_001394561.1:p.Gly1708Arg missense NM_001407633.1:c.5122G>C NP_001394562.1:p.Gly1708Arg missense NM_001407634.1:c.5122G>C NP_001394563.1:p.Gly1708Arg missense NM_001407635.1:c.5122G>C NP_001394564.1:p.Gly1708Arg missense NM_001407636.1:c.5122G>C NP_001394565.1:p.Gly1708Arg missense NM_001407637.1:c.5122G>C NP_001394566.1:p.Gly1708Arg missense NM_001407638.1:c.5122G>C NP_001394567.1:p.Gly1708Arg missense NM_001407639.1:c.5122G>C NP_001394568.1:p.Gly1708Arg missense NM_001407640.1:c.5122G>C NP_001394569.1:p.Gly1708Arg missense NM_001407641.1:c.5122G>C NP_001394570.1:p.Gly1708Arg missense NM_001407642.1:c.5122G>C NP_001394571.1:p.Gly1708Arg missense NM_001407644.1:c.5119G>C NP_001394573.1:p.Gly1707Arg missense NM_001407645.1:c.5119G>C NP_001394574.1:p.Gly1707Arg missense NM_001407646.1:c.5116G>C NP_001394575.1:p.Gly1706Arg missense NM_001407647.1:c.5113G>C NP_001394576.1:p.Gly1705Arg missense NM_001407648.1:c.5071G>C NP_001394577.1:p.Gly1691Arg missense NM_001407649.1:c.5068G>C NP_001394578.1:p.Gly1690Arg missense NM_001407653.1:c.5050G>C NP_001394582.1:p.Gly1684Arg missense NM_001407654.1:c.5050G>C NP_001394583.1:p.Gly1684Arg missense NM_001407655.1:c.5050G>C NP_001394584.1:p.Gly1684Arg missense NM_001407656.1:c.5047G>C NP_001394585.1:p.Gly1683Arg missense NM_001407657.1:c.5047G>C NP_001394586.1:p.Gly1683Arg missense NM_001407658.1:c.5047G>C NP_001394587.1:p.Gly1683Arg missense NM_001407659.1:c.5044G>C NP_001394588.1:p.Gly1682Arg missense NM_001407660.1:c.5044G>C NP_001394589.1:p.Gly1682Arg missense NM_001407661.1:c.5044G>C NP_001394590.1:p.Gly1682Arg missense NM_001407662.1:c.5044G>C NP_001394591.1:p.Gly1682Arg missense NM_001407663.1:c.5044G>C NP_001394592.1:p.Gly1682Arg missense NM_001407664.1:c.5005G>C NP_001394593.1:p.Gly1669Arg missense NM_001407665.1:c.5005G>C NP_001394594.1:p.Gly1669Arg missense NM_001407666.1:c.5005G>C NP_001394595.1:p.Gly1669Arg missense NM_001407667.1:c.5005G>C NP_001394596.1:p.Gly1669Arg missense NM_001407668.1:c.5005G>C NP_001394597.1:p.Gly1669Arg missense NM_001407669.1:c.5005G>C NP_001394598.1:p.Gly1669Arg missense NM_001407670.1:c.5002G>C NP_001394599.1:p.Gly1668Arg missense NM_001407671.1:c.5002G>C NP_001394600.1:p.Gly1668Arg missense NM_001407672.1:c.5002G>C NP_001394601.1:p.Gly1668Arg missense NM_001407673.1:c.5002G>C NP_001394602.1:p.Gly1668Arg missense NM_001407674.1:c.5002G>C NP_001394603.1:p.Gly1668Arg missense NM_001407675.1:c.5002G>C NP_001394604.1:p.Gly1668Arg missense NM_001407676.1:c.5002G>C NP_001394605.1:p.Gly1668Arg missense NM_001407677.1:c.5002G>C NP_001394606.1:p.Gly1668Arg missense NM_001407678.1:c.5002G>C NP_001394607.1:p.Gly1668Arg missense NM_001407679.1:c.5002G>C NP_001394608.1:p.Gly1668Arg missense NM_001407680.1:c.5002G>C NP_001394609.1:p.Gly1668Arg missense NM_001407681.1:c.4999G>C NP_001394610.1:p.Gly1667Arg missense NM_001407682.1:c.4999G>C NP_001394611.1:p.Gly1667Arg missense NM_001407683.1:c.4999G>C NP_001394612.1:p.Gly1667Arg missense NM_001407684.1:c.5128G>C NP_001394613.1:p.Gly1710Arg missense NM_001407685.1:c.4999G>C NP_001394614.1:p.Gly1667Arg missense NM_001407686.1:c.4999G>C NP_001394615.1:p.Gly1667Arg missense NM_001407687.1:c.4999G>C NP_001394616.1:p.Gly1667Arg missense NM_001407688.1:c.4999G>C NP_001394617.1:p.Gly1667Arg missense NM_001407689.1:c.4999G>C NP_001394618.1:p.Gly1667Arg missense NM_001407690.1:c.4996G>C NP_001394619.1:p.Gly1666Arg missense NM_001407691.1:c.4996G>C NP_001394620.1:p.Gly1666Arg missense NM_001407692.1:c.4987G>C NP_001394621.1:p.Gly1663Arg missense NM_001407694.1:c.4987G>C NP_001394623.1:p.Gly1663Arg missense NM_001407695.1:c.4987G>C NP_001394624.1:p.Gly1663Arg missense NM_001407696.1:c.4987G>C NP_001394625.1:p.Gly1663Arg missense NM_001407697.1:c.4987G>C NP_001394626.1:p.Gly1663Arg missense NM_001407698.1:c.4987G>C NP_001394627.1:p.Gly1663Arg missense NM_001407724.1:c.4987G>C NP_001394653.1:p.Gly1663Arg missense NM_001407725.1:c.4987G>C NP_001394654.1:p.Gly1663Arg missense NM_001407726.1:c.4987G>C NP_001394655.1:p.Gly1663Arg missense NM_001407727.1:c.4987G>C NP_001394656.1:p.Gly1663Arg missense NM_001407728.1:c.4987G>C NP_001394657.1:p.Gly1663Arg missense NM_001407729.1:c.4987G>C NP_001394658.1:p.Gly1663Arg missense NM_001407730.1:c.4987G>C NP_001394659.1:p.Gly1663Arg missense NM_001407731.1:c.4987G>C NP_001394660.1:p.Gly1663Arg missense NM_001407732.1:c.4984G>C NP_001394661.1:p.Gly1662Arg missense NM_001407733.1:c.4984G>C NP_001394662.1:p.Gly1662Arg missense NM_001407734.1:c.4984G>C NP_001394663.1:p.Gly1662Arg missense NM_001407735.1:c.4984G>C NP_001394664.1:p.Gly1662Arg missense NM_001407736.1:c.4984G>C NP_001394665.1:p.Gly1662Arg missense NM_001407737.1:c.4984G>C NP_001394666.1:p.Gly1662Arg missense NM_001407738.1:c.4984G>C NP_001394667.1:p.Gly1662Arg missense NM_001407739.1:c.4984G>C NP_001394668.1:p.Gly1662Arg missense NM_001407740.1:c.4984G>C NP_001394669.1:p.Gly1662Arg missense NM_001407741.1:c.4984G>C NP_001394670.1:p.Gly1662Arg missense NM_001407742.1:c.4984G>C NP_001394671.1:p.Gly1662Arg missense NM_001407743.1:c.4984G>C NP_001394672.1:p.Gly1662Arg missense NM_001407744.1:c.4984G>C NP_001394673.1:p.Gly1662Arg missense NM_001407745.1:c.4984G>C NP_001394674.1:p.Gly1662Arg missense NM_001407746.1:c.4984G>C NP_001394675.1:p.Gly1662Arg missense NM_001407747.1:c.4984G>C NP_001394676.1:p.Gly1662Arg missense NM_001407748.1:c.4984G>C NP_001394677.1:p.Gly1662Arg missense NM_001407749.1:c.4984G>C NP_001394678.1:p.Gly1662Arg missense NM_001407750.1:c.4984G>C NP_001394679.1:p.Gly1662Arg missense NM_001407751.1:c.4984G>C NP_001394680.1:p.Gly1662Arg missense NM_001407752.1:c.4984G>C NP_001394681.1:p.Gly1662Arg missense NM_001407838.1:c.4981G>C NP_001394767.1:p.Gly1661Arg missense NM_001407839.1:c.4981G>C NP_001394768.1:p.Gly1661Arg missense NM_001407841.1:c.4981G>C NP_001394770.1:p.Gly1661Arg missense NM_001407842.1:c.4981G>C NP_001394771.1:p.Gly1661Arg missense NM_001407843.1:c.4981G>C NP_001394772.1:p.Gly1661Arg missense NM_001407844.1:c.4981G>C NP_001394773.1:p.Gly1661Arg missense NM_001407845.1:c.4981G>C NP_001394774.1:p.Gly1661Arg missense NM_001407846.1:c.4981G>C NP_001394775.1:p.Gly1661Arg missense NM_001407847.1:c.4981G>C NP_001394776.1:p.Gly1661Arg missense NM_001407848.1:c.4981G>C NP_001394777.1:p.Gly1661Arg missense NM_001407849.1:c.4981G>C NP_001394778.1:p.Gly1661Arg missense NM_001407850.1:c.4981G>C NP_001394779.1:p.Gly1661Arg missense NM_001407851.1:c.4981G>C NP_001394780.1:p.Gly1661Arg missense NM_001407852.1:c.4981G>C NP_001394781.1:p.Gly1661Arg missense NM_001407853.1:c.4981G>C NP_001394782.1:p.Gly1661Arg missense NM_001407854.1:c.5128G>C NP_001394783.1:p.Gly1710Arg missense NM_001407858.1:c.5125G>C NP_001394787.1:p.Gly1709Arg missense NM_001407859.1:c.5125G>C NP_001394788.1:p.Gly1709Arg missense NM_001407860.1:c.5125G>C NP_001394789.1:p.Gly1709Arg missense NM_001407861.1:c.5122G>C NP_001394790.1:p.Gly1708Arg missense NM_001407862.1:c.4927G>C NP_001394791.1:p.Gly1643Arg missense NM_001407874.1:c.4921G>C NP_001394803.1:p.Gly1641Arg missense NM_001407875.1:c.4921G>C NP_001394804.1:p.Gly1641Arg missense NM_001407879.1:c.4918G>C NP_001394808.1:p.Gly1640Arg missense NM_001407881.1:c.4918G>C NP_001394810.1:p.Gly1640Arg missense NM_001407882.1:c.4918G>C NP_001394811.1:p.Gly1640Arg missense NM_001407884.1:c.4918G>C NP_001394813.1:p.Gly1640Arg missense NM_001407885.1:c.4918G>C NP_001394814.1:p.Gly1640Arg missense NM_001407886.1:c.4918G>C NP_001394815.1:p.Gly1640Arg missense NM_001407887.1:c.4918G>C NP_001394816.1:p.Gly1640Arg missense NM_001407889.1:c.4918G>C NP_001394818.1:p.Gly1640Arg missense NM_001407894.1:c.4915G>C NP_001394823.1:p.Gly1639Arg missense NM_001407895.1:c.4915G>C NP_001394824.1:p.Gly1639Arg missense NM_001407896.1:c.4915G>C NP_001394825.1:p.Gly1639Arg missense NM_001407897.1:c.4915G>C NP_001394826.1:p.Gly1639Arg missense NM_001407898.1:c.4915G>C NP_001394827.1:p.Gly1639Arg missense NM_001407899.1:c.4915G>C NP_001394828.1:p.Gly1639Arg missense NM_001407900.1:c.4915G>C NP_001394829.1:p.Gly1639Arg missense NM_001407902.1:c.4915G>C NP_001394831.1:p.Gly1639Arg missense NM_001407904.1:c.4915G>C NP_001394833.1:p.Gly1639Arg missense NM_001407906.1:c.4915G>C NP_001394835.1:p.Gly1639Arg missense NM_001407907.1:c.4915G>C NP_001394836.1:p.Gly1639Arg missense NM_001407908.1:c.4915G>C NP_001394837.1:p.Gly1639Arg missense NM_001407909.1:c.4915G>C NP_001394838.1:p.Gly1639Arg missense NM_001407910.1:c.4915G>C NP_001394839.1:p.Gly1639Arg missense NM_001407915.1:c.4912G>C NP_001394844.1:p.Gly1638Arg missense NM_001407916.1:c.4912G>C NP_001394845.1:p.Gly1638Arg missense NM_001407917.1:c.4912G>C NP_001394846.1:p.Gly1638Arg missense NM_001407918.1:c.4912G>C NP_001394847.1:p.Gly1638Arg missense NM_001407919.1:c.5005G>C NP_001394848.1:p.Gly1669Arg missense NM_001407920.1:c.4864G>C NP_001394849.1:p.Gly1622Arg missense NM_001407921.1:c.4864G>C NP_001394850.1:p.Gly1622Arg missense NM_001407922.1:c.4864G>C NP_001394851.1:p.Gly1622Arg missense NM_001407923.1:c.4864G>C NP_001394852.1:p.Gly1622Arg missense NM_001407924.1:c.4864G>C NP_001394853.1:p.Gly1622Arg missense NM_001407925.1:c.4864G>C NP_001394854.1:p.Gly1622Arg missense NM_001407926.1:c.4864G>C NP_001394855.1:p.Gly1622Arg missense NM_001407927.1:c.4861G>C NP_001394856.1:p.Gly1621Arg missense NM_001407928.1:c.4861G>C NP_001394857.1:p.Gly1621Arg missense NM_001407929.1:c.4861G>C NP_001394858.1:p.Gly1621Arg missense NM_001407930.1:c.4861G>C NP_001394859.1:p.Gly1621Arg missense NM_001407931.1:c.4861G>C NP_001394860.1:p.Gly1621Arg missense NM_001407932.1:c.4861G>C NP_001394861.1:p.Gly1621Arg missense NM_001407933.1:c.4861G>C NP_001394862.1:p.Gly1621Arg missense NM_001407934.1:c.4858G>C NP_001394863.1:p.Gly1620Arg missense NM_001407935.1:c.4858G>C NP_001394864.1:p.Gly1620Arg missense NM_001407936.1:c.4858G>C NP_001394865.1:p.Gly1620Arg missense NM_001407937.1:c.5005G>C NP_001394866.1:p.Gly1669Arg missense NM_001407938.1:c.5005G>C NP_001394867.1:p.Gly1669Arg missense NM_001407939.1:c.5002G>C NP_001394868.1:p.Gly1668Arg missense NM_001407940.1:c.5002G>C NP_001394869.1:p.Gly1668Arg missense NM_001407941.1:c.4999G>C NP_001394870.1:p.Gly1667Arg missense NM_001407942.1:c.4987G>C NP_001394871.1:p.Gly1663Arg missense NM_001407943.1:c.4984G>C NP_001394872.1:p.Gly1662Arg missense NM_001407944.1:c.4984G>C NP_001394873.1:p.Gly1662Arg missense NM_001407945.1:c.4984G>C NP_001394874.1:p.Gly1662Arg missense NM_001407946.1:c.4795G>C NP_001394875.1:p.Gly1599Arg missense NM_001407947.1:c.4795G>C NP_001394876.1:p.Gly1599Arg missense NM_001407948.1:c.4795G>C NP_001394877.1:p.Gly1599Arg missense NM_001407949.1:c.4795G>C NP_001394878.1:p.Gly1599Arg missense NM_001407950.1:c.4792G>C NP_001394879.1:p.Gly1598Arg missense NM_001407951.1:c.4792G>C NP_001394880.1:p.Gly1598Arg missense NM_001407952.1:c.4792G>C NP_001394881.1:p.Gly1598Arg missense NM_001407953.1:c.4792G>C NP_001394882.1:p.Gly1598Arg missense NM_001407954.1:c.4792G>C NP_001394883.1:p.Gly1598Arg missense NM_001407955.1:c.4792G>C NP_001394884.1:p.Gly1598Arg missense NM_001407956.1:c.4789G>C NP_001394885.1:p.Gly1597Arg missense NM_001407957.1:c.4789G>C NP_001394886.1:p.Gly1597Arg missense NM_001407958.1:c.4789G>C NP_001394887.1:p.Gly1597Arg missense NM_001407959.1:c.4747G>C NP_001394888.1:p.Gly1583Arg missense NM_001407960.1:c.4744G>C NP_001394889.1:p.Gly1582Arg missense NM_001407962.1:c.4744G>C NP_001394891.1:p.Gly1582Arg missense NM_001407963.1:c.4741G>C NP_001394892.1:p.Gly1581Arg missense NM_001407964.1:c.4666G>C NP_001394893.1:p.Gly1556Arg missense NM_001407965.1:c.4621G>C NP_001394894.1:p.Gly1541Arg missense NM_001407966.1:c.4240G>C NP_001394895.1:p.Gly1414Arg missense NM_001407967.1:c.4237G>C NP_001394896.1:p.Gly1413Arg missense NM_001407968.1:c.2524G>C NP_001394897.1:p.Gly842Arg missense NM_001407969.1:c.2521G>C NP_001394898.1:p.Gly841Arg missense NM_001407970.1:c.1885G>C NP_001394899.1:p.Gly629Arg missense NM_001407971.1:c.1885G>C NP_001394900.1:p.Gly629Arg missense NM_001407972.1:c.1882G>C NP_001394901.1:p.Gly628Arg missense NM_001407973.1:c.1819G>C NP_001394902.1:p.Gly607Arg missense NM_001407974.1:c.1819G>C NP_001394903.1:p.Gly607Arg missense NM_001407975.1:c.1819G>C NP_001394904.1:p.Gly607Arg missense NM_001407976.1:c.1819G>C NP_001394905.1:p.Gly607Arg missense NM_001407977.1:c.1819G>C NP_001394906.1:p.Gly607Arg missense NM_001407978.1:c.1819G>C NP_001394907.1:p.Gly607Arg missense NM_001407979.1:c.1816G>C NP_001394908.1:p.Gly606Arg missense NM_001407980.1:c.1816G>C NP_001394909.1:p.Gly606Arg missense NM_001407981.1:c.1816G>C NP_001394910.1:p.Gly606Arg missense NM_001407982.1:c.1816G>C NP_001394911.1:p.Gly606Arg missense NM_001407983.1:c.1816G>C NP_001394912.1:p.Gly606Arg missense NM_001407984.1:c.1816G>C NP_001394913.1:p.Gly606Arg missense NM_001407985.1:c.1816G>C NP_001394914.1:p.Gly606Arg missense NM_001407986.1:c.1816G>C NP_001394915.1:p.Gly606Arg missense NM_001407990.1:c.1816G>C NP_001394919.1:p.Gly606Arg missense NM_001407991.1:c.1816G>C NP_001394920.1:p.Gly606Arg missense NM_001407992.1:c.1816G>C NP_001394921.1:p.Gly606Arg missense NM_001407993.1:c.1816G>C NP_001394922.1:p.Gly606Arg missense NM_001408392.1:c.1813G>C NP_001395321.1:p.Gly605Arg missense NM_001408396.1:c.1813G>C NP_001395325.1:p.Gly605Arg missense NM_001408397.1:c.1813G>C NP_001395326.1:p.Gly605Arg missense NM_001408398.1:c.1813G>C NP_001395327.1:p.Gly605Arg missense NM_001408399.1:c.1813G>C NP_001395328.1:p.Gly605Arg missense NM_001408400.1:c.1813G>C NP_001395329.1:p.Gly605Arg missense NM_001408401.1:c.1813G>C NP_001395330.1:p.Gly605Arg missense NM_001408402.1:c.1813G>C NP_001395331.1:p.Gly605Arg missense NM_001408403.1:c.1813G>C NP_001395332.1:p.Gly605Arg missense NM_001408404.1:c.1813G>C NP_001395333.1:p.Gly605Arg missense NM_001408406.1:c.1810G>C NP_001395335.1:p.Gly604Arg missense NM_001408407.1:c.1810G>C NP_001395336.1:p.Gly604Arg missense NM_001408408.1:c.1810G>C NP_001395337.1:p.Gly604Arg missense NM_001408409.1:c.1807G>C NP_001395338.1:p.Gly603Arg missense NM_001408410.1:c.1744G>C NP_001395339.1:p.Gly582Arg missense NM_001408411.1:c.1741G>C NP_001395340.1:p.Gly581Arg missense NM_001408412.1:c.1738G>C NP_001395341.1:p.Gly580Arg missense NM_001408413.1:c.1738G>C NP_001395342.1:p.Gly580Arg missense NM_001408414.1:c.1738G>C NP_001395343.1:p.Gly580Arg missense NM_001408415.1:c.1738G>C NP_001395344.1:p.Gly580Arg missense NM_001408416.1:c.1738G>C NP_001395345.1:p.Gly580Arg missense NM_001408418.1:c.1702G>C NP_001395347.1:p.Gly568Arg missense NM_001408419.1:c.1702G>C NP_001395348.1:p.Gly568Arg missense NM_001408420.1:c.1702G>C NP_001395349.1:p.Gly568Arg missense NM_001408421.1:c.1699G>C NP_001395350.1:p.Gly567Arg missense NM_001408422.1:c.1699G>C NP_001395351.1:p.Gly567Arg missense NM_001408423.1:c.1699G>C NP_001395352.1:p.Gly567Arg missense NM_001408424.1:c.1699G>C NP_001395353.1:p.Gly567Arg missense NM_001408425.1:c.1696G>C NP_001395354.1:p.Gly566Arg missense NM_001408426.1:c.1696G>C NP_001395355.1:p.Gly566Arg missense NM_001408427.1:c.1696G>C NP_001395356.1:p.Gly566Arg missense NM_001408428.1:c.1696G>C NP_001395357.1:p.Gly566Arg missense NM_001408429.1:c.1696G>C NP_001395358.1:p.Gly566Arg missense NM_001408430.1:c.1696G>C NP_001395359.1:p.Gly566Arg missense NM_001408431.1:c.1696G>C NP_001395360.1:p.Gly566Arg missense NM_001408432.1:c.1693G>C NP_001395361.1:p.Gly565Arg missense NM_001408433.1:c.1693G>C NP_001395362.1:p.Gly565Arg missense NM_001408434.1:c.1693G>C NP_001395363.1:p.Gly565Arg missense NM_001408435.1:c.1693G>C NP_001395364.1:p.Gly565Arg missense NM_001408436.1:c.1693G>C NP_001395365.1:p.Gly565Arg missense NM_001408437.1:c.1693G>C NP_001395366.1:p.Gly565Arg missense NM_001408438.1:c.1693G>C NP_001395367.1:p.Gly565Arg missense NM_001408439.1:c.1693G>C NP_001395368.1:p.Gly565Arg missense NM_001408440.1:c.1693G>C NP_001395369.1:p.Gly565Arg missense NM_001408441.1:c.1693G>C NP_001395370.1:p.Gly565Arg missense NM_001408442.1:c.1693G>C NP_001395371.1:p.Gly565Arg missense NM_001408443.1:c.1693G>C NP_001395372.1:p.Gly565Arg missense NM_001408444.1:c.1693G>C NP_001395373.1:p.Gly565Arg missense NM_001408445.1:c.1690G>C NP_001395374.1:p.Gly564Arg missense NM_001408446.1:c.1690G>C NP_001395375.1:p.Gly564Arg missense NM_001408447.1:c.1690G>C NP_001395376.1:p.Gly564Arg missense NM_001408448.1:c.1690G>C NP_001395377.1:p.Gly564Arg missense NM_001408450.1:c.1690G>C NP_001395379.1:p.Gly564Arg missense NM_001408451.1:c.1684G>C NP_001395380.1:p.Gly562Arg missense NM_001408452.1:c.1678G>C NP_001395381.1:p.Gly560Arg missense NM_001408453.1:c.1678G>C NP_001395382.1:p.Gly560Arg missense NM_001408454.1:c.1678G>C NP_001395383.1:p.Gly560Arg missense NM_001408455.1:c.1678G>C NP_001395384.1:p.Gly560Arg missense NM_001408456.1:c.1678G>C NP_001395385.1:p.Gly560Arg missense NM_001408457.1:c.1678G>C NP_001395386.1:p.Gly560Arg missense NM_001408458.1:c.1675G>C NP_001395387.1:p.Gly559Arg missense NM_001408459.1:c.1675G>C NP_001395388.1:p.Gly559Arg missense NM_001408460.1:c.1675G>C NP_001395389.1:p.Gly559Arg missense NM_001408461.1:c.1675G>C NP_001395390.1:p.Gly559Arg missense NM_001408462.1:c.1675G>C NP_001395391.1:p.Gly559Arg missense NM_001408463.1:c.1675G>C NP_001395392.1:p.Gly559Arg missense NM_001408464.1:c.1675G>C NP_001395393.1:p.Gly559Arg missense NM_001408465.1:c.1675G>C NP_001395394.1:p.Gly559Arg missense NM_001408466.1:c.1675G>C NP_001395395.1:p.Gly559Arg missense NM_001408467.1:c.1675G>C NP_001395396.1:p.Gly559Arg missense NM_001408468.1:c.1672G>C NP_001395397.1:p.Gly558Arg missense NM_001408469.1:c.1672G>C NP_001395398.1:p.Gly558Arg missense NM_001408470.1:c.1672G>C NP_001395399.1:p.Gly558Arg missense NM_001408472.1:c.1816G>C NP_001395401.1:p.Gly606Arg missense NM_001408473.1:c.1813G>C NP_001395402.1:p.Gly605Arg missense NM_001408474.1:c.1618G>C NP_001395403.1:p.Gly540Arg missense NM_001408475.1:c.1615G>C NP_001395404.1:p.Gly539Arg missense NM_001408476.1:c.1615G>C NP_001395405.1:p.Gly539Arg missense NM_001408478.1:c.1609G>C NP_001395407.1:p.Gly537Arg missense NM_001408479.1:c.1609G>C NP_001395408.1:p.Gly537Arg missense NM_001408480.1:c.1609G>C NP_001395409.1:p.Gly537Arg missense NM_001408481.1:c.1606G>C NP_001395410.1:p.Gly536Arg missense NM_001408482.1:c.1606G>C NP_001395411.1:p.Gly536Arg missense NM_001408483.1:c.1606G>C NP_001395412.1:p.Gly536Arg missense NM_001408484.1:c.1606G>C NP_001395413.1:p.Gly536Arg missense NM_001408485.1:c.1606G>C NP_001395414.1:p.Gly536Arg missense NM_001408489.1:c.1606G>C NP_001395418.1:p.Gly536Arg missense NM_001408490.1:c.1606G>C NP_001395419.1:p.Gly536Arg missense NM_001408491.1:c.1606G>C NP_001395420.1:p.Gly536Arg missense NM_001408492.1:c.1603G>C NP_001395421.1:p.Gly535Arg missense NM_001408493.1:c.1603G>C NP_001395422.1:p.Gly535Arg missense NM_001408494.1:c.1579G>C NP_001395423.1:p.Gly527Arg missense NM_001408495.1:c.1573G>C NP_001395424.1:p.Gly525Arg missense NM_001408496.1:c.1555G>C NP_001395425.1:p.Gly519Arg missense NM_001408497.1:c.1555G>C NP_001395426.1:p.Gly519Arg missense NM_001408498.1:c.1555G>C NP_001395427.1:p.Gly519Arg missense NM_001408499.1:c.1555G>C NP_001395428.1:p.Gly519Arg missense NM_001408500.1:c.1555G>C NP_001395429.1:p.Gly519Arg missense NM_001408501.1:c.1555G>C NP_001395430.1:p.Gly519Arg missense NM_001408502.1:c.1552G>C NP_001395431.1:p.Gly518Arg missense NM_001408503.1:c.1552G>C NP_001395432.1:p.Gly518Arg missense NM_001408504.1:c.1552G>C NP_001395433.1:p.Gly518Arg missense NM_001408505.1:c.1549G>C NP_001395434.1:p.Gly517Arg missense NM_001408506.1:c.1492G>C NP_001395435.1:p.Gly498Arg missense NM_001408507.1:c.1489G>C NP_001395436.1:p.Gly497Arg missense NM_001408508.1:c.1480G>C NP_001395437.1:p.Gly494Arg missense NM_001408509.1:c.1477G>C NP_001395438.1:p.Gly493Arg missense NM_001408510.1:c.1438G>C NP_001395439.1:p.Gly480Arg missense NM_001408511.1:c.1435G>C NP_001395440.1:p.Gly479Arg missense NM_001408512.1:c.1315G>C NP_001395441.1:p.Gly439Arg missense NM_001408513.1:c.1288G>C NP_001395442.1:p.Gly430Arg missense NM_001408514.1:c.892G>C NP_001395443.1:p.Gly298Arg missense NM_007297.4:c.4987G>C NP_009228.2:p.Gly1663Arg missense NM_007298.4:c.1816G>C NP_009229.2:p.Gly606Arg missense NM_007299.4:c.1816G>C NP_009230.2:p.Gly606Arg missense NM_007300.4:c.5191G>C NP_009231.2:p.Gly1731Arg missense NM_007304.2:c.1816G>C NP_009235.2:p.Gly606Arg missense NR_027676.2:n.5305G>C non-coding transcript variant NC_000017.11:g.43063898C>G NC_000017.10:g.41215915C>G NG_005905.2:g.154086G>C LRG_292:g.154086G>C LRG_292t1:c.5128G>C LRG_292p1:p.Gly1710Arg - Protein change
- G1731R, G606R, G1663R, G1710R, G1581R, G1582R, G1621R, G1622R, G1639R, G1661R, G1667R, G1682R, G1683R, G1684R, G1706R, G1709R, G518R, G525R, G527R, G540R, G562R, G566R, G603R, G604R, G568R, G580R, G629R, G1414R, G1599R, G1662R, G1691R, G480R, G493R, G494R, G535R, G537R, G558R, G564R, G565R, G567R, G581R, G582R, G607R, G628R, G1583R, G1598R, G1638R, G1640R, G1641R, G1643R, G1666R, G1668R, G1707R, G1708R, G298R, G430R, G497R, G539R, G559R, G560R, G1413R, G1541R, G1556R, G1597R, G1620R, G1669R, G1690R, G1705R, G1730R, G1732R, G439R, G479R, G498R, G517R, G519R, G536R, G605R, G841R, G842R
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063897:C: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.5128G>C, a MISSENSE variant, produced a function score of 0.38, 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.
-
0.00020 (T)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
|
- | RCV001077638.3 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001243596.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:0.383451487500113
|
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: SCV001243596.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5128G>C, a MISSENSE variant, produced a function score of 0.38, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5128G>C, a MISSENSE variant, produced a function score of 0.38, 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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs397509229 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.