ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5129G>A (p.Gly1710Glu)
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.
Uncertain significance(4); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5129G>A (p.Gly1710Glu)
Variation ID: 91638 Accession: VCV000091638.20
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43063897 (GRCh38) [ NCBI UCSC ] 17: 41215914 (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 Sep 27, 2014 May 1, 2024 Dec 20, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5129G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1710Glu missense NM_001407571.1:c.4916G>A NP_001394500.1:p.Gly1639Glu missense NM_001407581.1:c.5195G>A NP_001394510.1:p.Gly1732Glu missense NM_001407582.1:c.5195G>A NP_001394511.1:p.Gly1732Glu missense NM_001407583.1:c.5192G>A NP_001394512.1:p.Gly1731Glu missense NM_001407585.1:c.5192G>A NP_001394514.1:p.Gly1731Glu missense NM_001407587.1:c.5192G>A NP_001394516.1:p.Gly1731Glu missense NM_001407590.1:c.5189G>A NP_001394519.1:p.Gly1730Glu missense NM_001407591.1:c.5189G>A NP_001394520.1:p.Gly1730Glu missense NM_001407593.1:c.5129G>A NP_001394522.1:p.Gly1710Glu missense NM_001407594.1:c.5129G>A NP_001394523.1:p.Gly1710Glu missense NM_001407596.1:c.5129G>A NP_001394525.1:p.Gly1710Glu missense NM_001407597.1:c.5129G>A NP_001394526.1:p.Gly1710Glu missense NM_001407598.1:c.5129G>A NP_001394527.1:p.Gly1710Glu missense NM_001407602.1:c.5129G>A NP_001394531.1:p.Gly1710Glu missense NM_001407603.1:c.5129G>A NP_001394532.1:p.Gly1710Glu missense NM_001407605.1:c.5129G>A NP_001394534.1:p.Gly1710Glu missense NM_001407610.1:c.5126G>A NP_001394539.1:p.Gly1709Glu missense NM_001407611.1:c.5126G>A NP_001394540.1:p.Gly1709Glu missense NM_001407612.1:c.5126G>A NP_001394541.1:p.Gly1709Glu missense NM_001407613.1:c.5126G>A NP_001394542.1:p.Gly1709Glu missense NM_001407614.1:c.5126G>A NP_001394543.1:p.Gly1709Glu missense NM_001407615.1:c.5126G>A NP_001394544.1:p.Gly1709Glu missense NM_001407616.1:c.5126G>A NP_001394545.1:p.Gly1709Glu missense NM_001407617.1:c.5126G>A NP_001394546.1:p.Gly1709Glu missense NM_001407618.1:c.5126G>A NP_001394547.1:p.Gly1709Glu missense NM_001407619.1:c.5126G>A NP_001394548.1:p.Gly1709Glu missense NM_001407620.1:c.5126G>A NP_001394549.1:p.Gly1709Glu missense NM_001407621.1:c.5126G>A NP_001394550.1:p.Gly1709Glu missense NM_001407622.1:c.5126G>A NP_001394551.1:p.Gly1709Glu missense NM_001407623.1:c.5126G>A NP_001394552.1:p.Gly1709Glu missense NM_001407624.1:c.5126G>A NP_001394553.1:p.Gly1709Glu missense NM_001407625.1:c.5126G>A NP_001394554.1:p.Gly1709Glu missense NM_001407626.1:c.5126G>A NP_001394555.1:p.Gly1709Glu missense NM_001407627.1:c.5123G>A NP_001394556.1:p.Gly1708Glu missense NM_001407628.1:c.5123G>A NP_001394557.1:p.Gly1708Glu missense NM_001407629.1:c.5123G>A NP_001394558.1:p.Gly1708Glu missense NM_001407630.1:c.5123G>A NP_001394559.1:p.Gly1708Glu missense NM_001407631.1:c.5123G>A NP_001394560.1:p.Gly1708Glu missense NM_001407632.1:c.5123G>A NP_001394561.1:p.Gly1708Glu missense NM_001407633.1:c.5123G>A NP_001394562.1:p.Gly1708Glu missense NM_001407634.1:c.5123G>A NP_001394563.1:p.Gly1708Glu missense NM_001407635.1:c.5123G>A NP_001394564.1:p.Gly1708Glu missense NM_001407636.1:c.5123G>A NP_001394565.1:p.Gly1708Glu missense NM_001407637.1:c.5123G>A NP_001394566.1:p.Gly1708Glu missense NM_001407638.1:c.5123G>A NP_001394567.1:p.Gly1708Glu missense NM_001407639.1:c.5123G>A NP_001394568.1:p.Gly1708Glu missense NM_001407640.1:c.5123G>A NP_001394569.1:p.Gly1708Glu missense NM_001407641.1:c.5123G>A NP_001394570.1:p.Gly1708Glu missense NM_001407642.1:c.5123G>A NP_001394571.1:p.Gly1708Glu missense NM_001407644.1:c.5120G>A NP_001394573.1:p.Gly1707Glu missense NM_001407645.1:c.5120G>A NP_001394574.1:p.Gly1707Glu missense NM_001407646.1:c.5117G>A NP_001394575.1:p.Gly1706Glu missense NM_001407647.1:c.5114G>A NP_001394576.1:p.Gly1705Glu missense NM_001407648.1:c.5072G>A NP_001394577.1:p.Gly1691Glu missense NM_001407649.1:c.5069G>A NP_001394578.1:p.Gly1690Glu missense NM_001407653.1:c.5051G>A NP_001394582.1:p.Gly1684Glu missense NM_001407654.1:c.5051G>A NP_001394583.1:p.Gly1684Glu missense NM_001407655.1:c.5051G>A NP_001394584.1:p.Gly1684Glu missense NM_001407656.1:c.5048G>A NP_001394585.1:p.Gly1683Glu missense NM_001407657.1:c.5048G>A NP_001394586.1:p.Gly1683Glu missense NM_001407658.1:c.5048G>A NP_001394587.1:p.Gly1683Glu missense NM_001407659.1:c.5045G>A NP_001394588.1:p.Gly1682Glu missense NM_001407660.1:c.5045G>A NP_001394589.1:p.Gly1682Glu missense NM_001407661.1:c.5045G>A NP_001394590.1:p.Gly1682Glu missense NM_001407662.1:c.5045G>A NP_001394591.1:p.Gly1682Glu missense NM_001407663.1:c.5045G>A NP_001394592.1:p.Gly1682Glu missense NM_001407664.1:c.5006G>A NP_001394593.1:p.Gly1669Glu missense NM_001407665.1:c.5006G>A NP_001394594.1:p.Gly1669Glu missense NM_001407666.1:c.5006G>A NP_001394595.1:p.Gly1669Glu missense NM_001407667.1:c.5006G>A NP_001394596.1:p.Gly1669Glu missense NM_001407668.1:c.5006G>A NP_001394597.1:p.Gly1669Glu missense NM_001407669.1:c.5006G>A NP_001394598.1:p.Gly1669Glu missense NM_001407670.1:c.5003G>A NP_001394599.1:p.Gly1668Glu missense NM_001407671.1:c.5003G>A NP_001394600.1:p.Gly1668Glu missense NM_001407672.1:c.5003G>A NP_001394601.1:p.Gly1668Glu missense NM_001407673.1:c.5003G>A NP_001394602.1:p.Gly1668Glu missense NM_001407674.1:c.5003G>A NP_001394603.1:p.Gly1668Glu missense NM_001407675.1:c.5003G>A NP_001394604.1:p.Gly1668Glu missense NM_001407676.1:c.5003G>A NP_001394605.1:p.Gly1668Glu missense NM_001407677.1:c.5003G>A NP_001394606.1:p.Gly1668Glu missense NM_001407678.1:c.5003G>A NP_001394607.1:p.Gly1668Glu missense NM_001407679.1:c.5003G>A NP_001394608.1:p.Gly1668Glu missense NM_001407680.1:c.5003G>A NP_001394609.1:p.Gly1668Glu missense NM_001407681.1:c.5000G>A NP_001394610.1:p.Gly1667Glu missense NM_001407682.1:c.5000G>A NP_001394611.1:p.Gly1667Glu missense NM_001407683.1:c.5000G>A NP_001394612.1:p.Gly1667Glu missense NM_001407684.1:c.5129G>A NP_001394613.1:p.Gly1710Glu missense NM_001407685.1:c.5000G>A NP_001394614.1:p.Gly1667Glu missense NM_001407686.1:c.5000G>A NP_001394615.1:p.Gly1667Glu missense NM_001407687.1:c.5000G>A NP_001394616.1:p.Gly1667Glu missense NM_001407688.1:c.5000G>A NP_001394617.1:p.Gly1667Glu missense NM_001407689.1:c.5000G>A NP_001394618.1:p.Gly1667Glu missense NM_001407690.1:c.4997G>A NP_001394619.1:p.Gly1666Glu missense NM_001407691.1:c.4997G>A NP_001394620.1:p.Gly1666Glu missense NM_001407692.1:c.4988G>A NP_001394621.1:p.Gly1663Glu missense NM_001407694.1:c.4988G>A NP_001394623.1:p.Gly1663Glu missense NM_001407695.1:c.4988G>A NP_001394624.1:p.Gly1663Glu missense NM_001407696.1:c.4988G>A NP_001394625.1:p.Gly1663Glu missense NM_001407697.1:c.4988G>A NP_001394626.1:p.Gly1663Glu missense NM_001407698.1:c.4988G>A NP_001394627.1:p.Gly1663Glu missense NM_001407724.1:c.4988G>A NP_001394653.1:p.Gly1663Glu missense NM_001407725.1:c.4988G>A NP_001394654.1:p.Gly1663Glu missense NM_001407726.1:c.4988G>A NP_001394655.1:p.Gly1663Glu missense NM_001407727.1:c.4988G>A NP_001394656.1:p.Gly1663Glu missense NM_001407728.1:c.4988G>A NP_001394657.1:p.Gly1663Glu missense NM_001407729.1:c.4988G>A NP_001394658.1:p.Gly1663Glu missense NM_001407730.1:c.4988G>A NP_001394659.1:p.Gly1663Glu missense NM_001407731.1:c.4988G>A NP_001394660.1:p.Gly1663Glu missense NM_001407732.1:c.4985G>A NP_001394661.1:p.Gly1662Glu missense NM_001407733.1:c.4985G>A NP_001394662.1:p.Gly1662Glu missense NM_001407734.1:c.4985G>A NP_001394663.1:p.Gly1662Glu missense NM_001407735.1:c.4985G>A NP_001394664.1:p.Gly1662Glu missense NM_001407736.1:c.4985G>A NP_001394665.1:p.Gly1662Glu missense NM_001407737.1:c.4985G>A NP_001394666.1:p.Gly1662Glu missense NM_001407738.1:c.4985G>A NP_001394667.1:p.Gly1662Glu missense NM_001407739.1:c.4985G>A NP_001394668.1:p.Gly1662Glu missense NM_001407740.1:c.4985G>A NP_001394669.1:p.Gly1662Glu missense NM_001407741.1:c.4985G>A NP_001394670.1:p.Gly1662Glu missense NM_001407742.1:c.4985G>A NP_001394671.1:p.Gly1662Glu missense NM_001407743.1:c.4985G>A NP_001394672.1:p.Gly1662Glu missense NM_001407744.1:c.4985G>A NP_001394673.1:p.Gly1662Glu missense NM_001407745.1:c.4985G>A NP_001394674.1:p.Gly1662Glu missense NM_001407746.1:c.4985G>A NP_001394675.1:p.Gly1662Glu missense NM_001407747.1:c.4985G>A NP_001394676.1:p.Gly1662Glu missense NM_001407748.1:c.4985G>A NP_001394677.1:p.Gly1662Glu missense NM_001407749.1:c.4985G>A NP_001394678.1:p.Gly1662Glu missense NM_001407750.1:c.4985G>A NP_001394679.1:p.Gly1662Glu missense NM_001407751.1:c.4985G>A NP_001394680.1:p.Gly1662Glu missense NM_001407752.1:c.4985G>A NP_001394681.1:p.Gly1662Glu missense NM_001407838.1:c.4982G>A NP_001394767.1:p.Gly1661Glu missense NM_001407839.1:c.4982G>A NP_001394768.1:p.Gly1661Glu missense NM_001407841.1:c.4982G>A NP_001394770.1:p.Gly1661Glu missense NM_001407842.1:c.4982G>A NP_001394771.1:p.Gly1661Glu missense NM_001407843.1:c.4982G>A NP_001394772.1:p.Gly1661Glu missense NM_001407844.1:c.4982G>A NP_001394773.1:p.Gly1661Glu missense NM_001407845.1:c.4982G>A NP_001394774.1:p.Gly1661Glu missense NM_001407846.1:c.4982G>A NP_001394775.1:p.Gly1661Glu missense NM_001407847.1:c.4982G>A NP_001394776.1:p.Gly1661Glu missense NM_001407848.1:c.4982G>A NP_001394777.1:p.Gly1661Glu missense NM_001407849.1:c.4982G>A NP_001394778.1:p.Gly1661Glu missense NM_001407850.1:c.4982G>A NP_001394779.1:p.Gly1661Glu missense NM_001407851.1:c.4982G>A NP_001394780.1:p.Gly1661Glu missense NM_001407852.1:c.4982G>A NP_001394781.1:p.Gly1661Glu missense NM_001407853.1:c.4982G>A NP_001394782.1:p.Gly1661Glu missense NM_001407854.1:c.5129G>A NP_001394783.1:p.Gly1710Glu missense NM_001407858.1:c.5126G>A NP_001394787.1:p.Gly1709Glu missense NM_001407859.1:c.5126G>A NP_001394788.1:p.Gly1709Glu missense NM_001407860.1:c.5126G>A NP_001394789.1:p.Gly1709Glu missense NM_001407861.1:c.5123G>A NP_001394790.1:p.Gly1708Glu missense NM_001407862.1:c.4928G>A NP_001394791.1:p.Gly1643Glu missense NM_001407874.1:c.4922G>A NP_001394803.1:p.Gly1641Glu missense NM_001407875.1:c.4922G>A NP_001394804.1:p.Gly1641Glu missense NM_001407879.1:c.4919G>A NP_001394808.1:p.Gly1640Glu missense NM_001407881.1:c.4919G>A NP_001394810.1:p.Gly1640Glu missense NM_001407882.1:c.4919G>A NP_001394811.1:p.Gly1640Glu missense NM_001407884.1:c.4919G>A NP_001394813.1:p.Gly1640Glu missense NM_001407885.1:c.4919G>A NP_001394814.1:p.Gly1640Glu missense NM_001407886.1:c.4919G>A NP_001394815.1:p.Gly1640Glu missense NM_001407887.1:c.4919G>A NP_001394816.1:p.Gly1640Glu missense NM_001407889.1:c.4919G>A NP_001394818.1:p.Gly1640Glu missense NM_001407894.1:c.4916G>A NP_001394823.1:p.Gly1639Glu missense NM_001407895.1:c.4916G>A NP_001394824.1:p.Gly1639Glu missense NM_001407896.1:c.4916G>A NP_001394825.1:p.Gly1639Glu missense NM_001407897.1:c.4916G>A NP_001394826.1:p.Gly1639Glu missense NM_001407898.1:c.4916G>A NP_001394827.1:p.Gly1639Glu missense NM_001407899.1:c.4916G>A NP_001394828.1:p.Gly1639Glu missense NM_001407900.1:c.4916G>A NP_001394829.1:p.Gly1639Glu missense NM_001407902.1:c.4916G>A NP_001394831.1:p.Gly1639Glu missense NM_001407904.1:c.4916G>A NP_001394833.1:p.Gly1639Glu missense NM_001407906.1:c.4916G>A NP_001394835.1:p.Gly1639Glu missense NM_001407907.1:c.4916G>A NP_001394836.1:p.Gly1639Glu missense NM_001407908.1:c.4916G>A NP_001394837.1:p.Gly1639Glu missense NM_001407909.1:c.4916G>A NP_001394838.1:p.Gly1639Glu missense NM_001407910.1:c.4916G>A NP_001394839.1:p.Gly1639Glu missense NM_001407915.1:c.4913G>A NP_001394844.1:p.Gly1638Glu missense NM_001407916.1:c.4913G>A NP_001394845.1:p.Gly1638Glu missense NM_001407917.1:c.4913G>A NP_001394846.1:p.Gly1638Glu missense NM_001407918.1:c.4913G>A NP_001394847.1:p.Gly1638Glu missense NM_001407919.1:c.5006G>A NP_001394848.1:p.Gly1669Glu missense NM_001407920.1:c.4865G>A NP_001394849.1:p.Gly1622Glu missense NM_001407921.1:c.4865G>A NP_001394850.1:p.Gly1622Glu missense NM_001407922.1:c.4865G>A NP_001394851.1:p.Gly1622Glu missense NM_001407923.1:c.4865G>A NP_001394852.1:p.Gly1622Glu missense NM_001407924.1:c.4865G>A NP_001394853.1:p.Gly1622Glu missense NM_001407925.1:c.4865G>A NP_001394854.1:p.Gly1622Glu missense NM_001407926.1:c.4865G>A NP_001394855.1:p.Gly1622Glu missense NM_001407927.1:c.4862G>A NP_001394856.1:p.Gly1621Glu missense NM_001407928.1:c.4862G>A NP_001394857.1:p.Gly1621Glu missense NM_001407929.1:c.4862G>A NP_001394858.1:p.Gly1621Glu missense NM_001407930.1:c.4862G>A NP_001394859.1:p.Gly1621Glu missense NM_001407931.1:c.4862G>A NP_001394860.1:p.Gly1621Glu missense NM_001407932.1:c.4862G>A NP_001394861.1:p.Gly1621Glu missense NM_001407933.1:c.4862G>A NP_001394862.1:p.Gly1621Glu missense NM_001407934.1:c.4859G>A NP_001394863.1:p.Gly1620Glu missense NM_001407935.1:c.4859G>A NP_001394864.1:p.Gly1620Glu missense NM_001407936.1:c.4859G>A NP_001394865.1:p.Gly1620Glu missense NM_001407937.1:c.5006G>A NP_001394866.1:p.Gly1669Glu missense NM_001407938.1:c.5006G>A NP_001394867.1:p.Gly1669Glu missense NM_001407939.1:c.5003G>A NP_001394868.1:p.Gly1668Glu missense NM_001407940.1:c.5003G>A NP_001394869.1:p.Gly1668Glu missense NM_001407941.1:c.5000G>A NP_001394870.1:p.Gly1667Glu missense NM_001407942.1:c.4988G>A NP_001394871.1:p.Gly1663Glu missense NM_001407943.1:c.4985G>A NP_001394872.1:p.Gly1662Glu missense NM_001407944.1:c.4985G>A NP_001394873.1:p.Gly1662Glu missense NM_001407945.1:c.4985G>A NP_001394874.1:p.Gly1662Glu missense NM_001407946.1:c.4796G>A NP_001394875.1:p.Gly1599Glu missense NM_001407947.1:c.4796G>A NP_001394876.1:p.Gly1599Glu missense NM_001407948.1:c.4796G>A NP_001394877.1:p.Gly1599Glu missense NM_001407949.1:c.4796G>A NP_001394878.1:p.Gly1599Glu missense NM_001407950.1:c.4793G>A NP_001394879.1:p.Gly1598Glu missense NM_001407951.1:c.4793G>A NP_001394880.1:p.Gly1598Glu missense NM_001407952.1:c.4793G>A NP_001394881.1:p.Gly1598Glu missense NM_001407953.1:c.4793G>A NP_001394882.1:p.Gly1598Glu missense NM_001407954.1:c.4793G>A NP_001394883.1:p.Gly1598Glu missense NM_001407955.1:c.4793G>A NP_001394884.1:p.Gly1598Glu missense NM_001407956.1:c.4790G>A NP_001394885.1:p.Gly1597Glu missense NM_001407957.1:c.4790G>A NP_001394886.1:p.Gly1597Glu missense NM_001407958.1:c.4790G>A NP_001394887.1:p.Gly1597Glu missense NM_001407959.1:c.4748G>A NP_001394888.1:p.Gly1583Glu missense NM_001407960.1:c.4745G>A NP_001394889.1:p.Gly1582Glu missense NM_001407962.1:c.4745G>A NP_001394891.1:p.Gly1582Glu missense NM_001407963.1:c.4742G>A NP_001394892.1:p.Gly1581Glu missense NM_001407964.1:c.4667G>A NP_001394893.1:p.Gly1556Glu missense NM_001407965.1:c.4622G>A NP_001394894.1:p.Gly1541Glu missense NM_001407966.1:c.4241G>A NP_001394895.1:p.Gly1414Glu missense NM_001407967.1:c.4238G>A NP_001394896.1:p.Gly1413Glu missense NM_001407968.1:c.2525G>A NP_001394897.1:p.Gly842Glu missense NM_001407969.1:c.2522G>A NP_001394898.1:p.Gly841Glu missense NM_001407970.1:c.1886G>A NP_001394899.1:p.Gly629Glu missense NM_001407971.1:c.1886G>A NP_001394900.1:p.Gly629Glu missense NM_001407972.1:c.1883G>A NP_001394901.1:p.Gly628Glu missense NM_001407973.1:c.1820G>A NP_001394902.1:p.Gly607Glu missense NM_001407974.1:c.1820G>A NP_001394903.1:p.Gly607Glu missense NM_001407975.1:c.1820G>A NP_001394904.1:p.Gly607Glu missense NM_001407976.1:c.1820G>A NP_001394905.1:p.Gly607Glu missense NM_001407977.1:c.1820G>A NP_001394906.1:p.Gly607Glu missense NM_001407978.1:c.1820G>A NP_001394907.1:p.Gly607Glu missense NM_001407979.1:c.1817G>A NP_001394908.1:p.Gly606Glu missense NM_001407980.1:c.1817G>A NP_001394909.1:p.Gly606Glu missense NM_001407981.1:c.1817G>A NP_001394910.1:p.Gly606Glu missense NM_001407982.1:c.1817G>A NP_001394911.1:p.Gly606Glu missense NM_001407983.1:c.1817G>A NP_001394912.1:p.Gly606Glu missense NM_001407984.1:c.1817G>A NP_001394913.1:p.Gly606Glu missense NM_001407985.1:c.1817G>A NP_001394914.1:p.Gly606Glu missense NM_001407986.1:c.1817G>A NP_001394915.1:p.Gly606Glu missense NM_001407990.1:c.1817G>A NP_001394919.1:p.Gly606Glu missense NM_001407991.1:c.1817G>A NP_001394920.1:p.Gly606Glu missense NM_001407992.1:c.1817G>A NP_001394921.1:p.Gly606Glu missense NM_001407993.1:c.1817G>A NP_001394922.1:p.Gly606Glu missense NM_001408392.1:c.1814G>A NP_001395321.1:p.Gly605Glu missense NM_001408396.1:c.1814G>A NP_001395325.1:p.Gly605Glu missense NM_001408397.1:c.1814G>A NP_001395326.1:p.Gly605Glu missense NM_001408398.1:c.1814G>A NP_001395327.1:p.Gly605Glu missense NM_001408399.1:c.1814G>A NP_001395328.1:p.Gly605Glu missense NM_001408400.1:c.1814G>A NP_001395329.1:p.Gly605Glu missense NM_001408401.1:c.1814G>A NP_001395330.1:p.Gly605Glu missense NM_001408402.1:c.1814G>A NP_001395331.1:p.Gly605Glu missense NM_001408403.1:c.1814G>A NP_001395332.1:p.Gly605Glu missense NM_001408404.1:c.1814G>A NP_001395333.1:p.Gly605Glu missense NM_001408406.1:c.1811G>A NP_001395335.1:p.Gly604Glu missense NM_001408407.1:c.1811G>A NP_001395336.1:p.Gly604Glu missense NM_001408408.1:c.1811G>A NP_001395337.1:p.Gly604Glu missense NM_001408409.1:c.1808G>A NP_001395338.1:p.Gly603Glu missense NM_001408410.1:c.1745G>A NP_001395339.1:p.Gly582Glu missense NM_001408411.1:c.1742G>A NP_001395340.1:p.Gly581Glu missense NM_001408412.1:c.1739G>A NP_001395341.1:p.Gly580Glu missense NM_001408413.1:c.1739G>A NP_001395342.1:p.Gly580Glu missense NM_001408414.1:c.1739G>A NP_001395343.1:p.Gly580Glu missense NM_001408415.1:c.1739G>A NP_001395344.1:p.Gly580Glu missense NM_001408416.1:c.1739G>A NP_001395345.1:p.Gly580Glu missense NM_001408418.1:c.1703G>A NP_001395347.1:p.Gly568Glu missense NM_001408419.1:c.1703G>A NP_001395348.1:p.Gly568Glu missense NM_001408420.1:c.1703G>A NP_001395349.1:p.Gly568Glu missense NM_001408421.1:c.1700G>A NP_001395350.1:p.Gly567Glu missense NM_001408422.1:c.1700G>A NP_001395351.1:p.Gly567Glu missense NM_001408423.1:c.1700G>A NP_001395352.1:p.Gly567Glu missense NM_001408424.1:c.1700G>A NP_001395353.1:p.Gly567Glu missense NM_001408425.1:c.1697G>A NP_001395354.1:p.Gly566Glu missense NM_001408426.1:c.1697G>A NP_001395355.1:p.Gly566Glu missense NM_001408427.1:c.1697G>A NP_001395356.1:p.Gly566Glu missense NM_001408428.1:c.1697G>A NP_001395357.1:p.Gly566Glu missense NM_001408429.1:c.1697G>A NP_001395358.1:p.Gly566Glu missense NM_001408430.1:c.1697G>A NP_001395359.1:p.Gly566Glu missense NM_001408431.1:c.1697G>A NP_001395360.1:p.Gly566Glu missense NM_001408432.1:c.1694G>A NP_001395361.1:p.Gly565Glu missense NM_001408433.1:c.1694G>A NP_001395362.1:p.Gly565Glu missense NM_001408434.1:c.1694G>A NP_001395363.1:p.Gly565Glu missense NM_001408435.1:c.1694G>A NP_001395364.1:p.Gly565Glu missense NM_001408436.1:c.1694G>A NP_001395365.1:p.Gly565Glu missense NM_001408437.1:c.1694G>A NP_001395366.1:p.Gly565Glu missense NM_001408438.1:c.1694G>A NP_001395367.1:p.Gly565Glu missense NM_001408439.1:c.1694G>A NP_001395368.1:p.Gly565Glu missense NM_001408440.1:c.1694G>A NP_001395369.1:p.Gly565Glu missense NM_001408441.1:c.1694G>A NP_001395370.1:p.Gly565Glu missense NM_001408442.1:c.1694G>A NP_001395371.1:p.Gly565Glu missense NM_001408443.1:c.1694G>A NP_001395372.1:p.Gly565Glu missense NM_001408444.1:c.1694G>A NP_001395373.1:p.Gly565Glu missense NM_001408445.1:c.1691G>A NP_001395374.1:p.Gly564Glu missense NM_001408446.1:c.1691G>A NP_001395375.1:p.Gly564Glu missense NM_001408447.1:c.1691G>A NP_001395376.1:p.Gly564Glu missense NM_001408448.1:c.1691G>A NP_001395377.1:p.Gly564Glu missense NM_001408450.1:c.1691G>A NP_001395379.1:p.Gly564Glu missense NM_001408451.1:c.1685G>A NP_001395380.1:p.Gly562Glu missense NM_001408452.1:c.1679G>A NP_001395381.1:p.Gly560Glu missense NM_001408453.1:c.1679G>A NP_001395382.1:p.Gly560Glu missense NM_001408454.1:c.1679G>A NP_001395383.1:p.Gly560Glu missense NM_001408455.1:c.1679G>A NP_001395384.1:p.Gly560Glu missense NM_001408456.1:c.1679G>A NP_001395385.1:p.Gly560Glu missense NM_001408457.1:c.1679G>A NP_001395386.1:p.Gly560Glu missense NM_001408458.1:c.1676G>A NP_001395387.1:p.Gly559Glu missense NM_001408459.1:c.1676G>A NP_001395388.1:p.Gly559Glu missense NM_001408460.1:c.1676G>A NP_001395389.1:p.Gly559Glu missense NM_001408461.1:c.1676G>A NP_001395390.1:p.Gly559Glu missense NM_001408462.1:c.1676G>A NP_001395391.1:p.Gly559Glu missense NM_001408463.1:c.1676G>A NP_001395392.1:p.Gly559Glu missense NM_001408464.1:c.1676G>A NP_001395393.1:p.Gly559Glu missense NM_001408465.1:c.1676G>A NP_001395394.1:p.Gly559Glu missense NM_001408466.1:c.1676G>A NP_001395395.1:p.Gly559Glu missense NM_001408467.1:c.1676G>A NP_001395396.1:p.Gly559Glu missense NM_001408468.1:c.1673G>A NP_001395397.1:p.Gly558Glu missense NM_001408469.1:c.1673G>A NP_001395398.1:p.Gly558Glu missense NM_001408470.1:c.1673G>A NP_001395399.1:p.Gly558Glu missense NM_001408472.1:c.1817G>A NP_001395401.1:p.Gly606Glu missense NM_001408473.1:c.1814G>A NP_001395402.1:p.Gly605Glu missense NM_001408474.1:c.1619G>A NP_001395403.1:p.Gly540Glu missense NM_001408475.1:c.1616G>A NP_001395404.1:p.Gly539Glu missense NM_001408476.1:c.1616G>A NP_001395405.1:p.Gly539Glu missense NM_001408478.1:c.1610G>A NP_001395407.1:p.Gly537Glu missense NM_001408479.1:c.1610G>A NP_001395408.1:p.Gly537Glu missense NM_001408480.1:c.1610G>A NP_001395409.1:p.Gly537Glu missense NM_001408481.1:c.1607G>A NP_001395410.1:p.Gly536Glu missense NM_001408482.1:c.1607G>A NP_001395411.1:p.Gly536Glu missense NM_001408483.1:c.1607G>A NP_001395412.1:p.Gly536Glu missense NM_001408484.1:c.1607G>A NP_001395413.1:p.Gly536Glu missense NM_001408485.1:c.1607G>A NP_001395414.1:p.Gly536Glu missense NM_001408489.1:c.1607G>A NP_001395418.1:p.Gly536Glu missense NM_001408490.1:c.1607G>A NP_001395419.1:p.Gly536Glu missense NM_001408491.1:c.1607G>A NP_001395420.1:p.Gly536Glu missense NM_001408492.1:c.1604G>A NP_001395421.1:p.Gly535Glu missense NM_001408493.1:c.1604G>A NP_001395422.1:p.Gly535Glu missense NM_001408494.1:c.1580G>A NP_001395423.1:p.Gly527Glu missense NM_001408495.1:c.1574G>A NP_001395424.1:p.Gly525Glu missense NM_001408496.1:c.1556G>A NP_001395425.1:p.Gly519Glu missense NM_001408497.1:c.1556G>A NP_001395426.1:p.Gly519Glu missense NM_001408498.1:c.1556G>A NP_001395427.1:p.Gly519Glu missense NM_001408499.1:c.1556G>A NP_001395428.1:p.Gly519Glu missense NM_001408500.1:c.1556G>A NP_001395429.1:p.Gly519Glu missense NM_001408501.1:c.1556G>A NP_001395430.1:p.Gly519Glu missense NM_001408502.1:c.1553G>A NP_001395431.1:p.Gly518Glu missense NM_001408503.1:c.1553G>A NP_001395432.1:p.Gly518Glu missense NM_001408504.1:c.1553G>A NP_001395433.1:p.Gly518Glu missense NM_001408505.1:c.1550G>A NP_001395434.1:p.Gly517Glu missense NM_001408506.1:c.1493G>A NP_001395435.1:p.Gly498Glu missense NM_001408507.1:c.1490G>A NP_001395436.1:p.Gly497Glu missense NM_001408508.1:c.1481G>A NP_001395437.1:p.Gly494Glu missense NM_001408509.1:c.1478G>A NP_001395438.1:p.Gly493Glu missense NM_001408510.1:c.1439G>A NP_001395439.1:p.Gly480Glu missense NM_001408511.1:c.1436G>A NP_001395440.1:p.Gly479Glu missense NM_001408512.1:c.1316G>A NP_001395441.1:p.Gly439Glu missense NM_001408513.1:c.1289G>A NP_001395442.1:p.Gly430Glu missense NM_001408514.1:c.893G>A NP_001395443.1:p.Gly298Glu missense NM_007297.4:c.4988G>A NP_009228.2:p.Gly1663Glu missense NM_007298.4:c.1817G>A NP_009229.2:p.Gly606Glu missense NM_007299.4:c.1817G>A NP_009230.2:p.Gly606Glu missense NM_007300.4:c.5192G>A NP_009231.2:p.Gly1731Glu missense NM_007304.2:c.1817G>A NP_009235.2:p.Gly606Glu missense NR_027676.2:n.5306G>A non-coding transcript variant NC_000017.11:g.43063897C>T NC_000017.10:g.41215914C>T NG_005905.2:g.154087G>A LRG_292:g.154087G>A LRG_292t1:c.5129G>A LRG_292p1:p.Gly1710Glu - Protein change
- G1710E, G606E, G1663E, G1731E, G1556E, G1581E, G1638E, G1705E, G498E, G517E, G525E, G564E, G582E, G1413E, G1597E, G1598E, G1621E, G1667E, G1669E, G1682E, G1684E, G1690E, G1709E, G298E, G494E, G497E, G535E, G537E, G558E, G559E, G560E, G565E, G605E, G628E, G629E, G842E, G1582E, G1599E, G1639E, G1640E, G1641E, G1643E, G1661E, G1666E, G1691E, G1706E, G1707E, G1730E, G479E, G519E, G527E, G536E, G539E, G562E, G566E, G607E, G1414E, G1541E, G1583E, G1620E, G1622E, G1662E, G1668E, G1683E, G1708E, G1732E, G430E, G439E, G480E, G493E, G518E, G540E, G567E, G568E, G580E, G581E, G603E, G604E, G841E
- Other names
- 5248G>A
- Canonical SPDI
- NC_000017.11:43063896:C:T
-
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.5129G>A, a MISSENSE variant, produced a function score of -0.35, 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.
The Genome Aggregation Database (gnomAD) 0.00001
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 |
12894 | 14680 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Uncertain significance (3) |
criteria provided, single submitter
|
Jul 18, 2023 | RCV000077155.7 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Dec 20, 2023 | RCV000703488.9 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Jul 21, 2022 | RCV000771310.8 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Uncertain significance
(Apr 21, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000903566.3
First in ClinVar: May 20, 2019 Last updated: Jan 08, 2022 |
Comment:
This missense variant replaces glycine with glutamic acid at codon 1710 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact … (more)
This missense variant replaces glycine with glutamic acid at codon 1710 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). However, a functional study reported that this variant does not impact BRCA1 function in a haploid human cell proliferation assay (PMID: 30209399). This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
|
|
Uncertain significance
(Jul 18, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215057.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
Uncertain significance
(Dec 20, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000832391.6
First in ClinVar: Oct 10, 2018 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1710 of the BRCA1 protein … (more)
This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1710 of the BRCA1 protein (p.Gly1710Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 35264596). ClinVar contains an entry for this variant (Variation ID: 91638). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function with a negative predictive value of 95%. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399, 30257991). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
|
Likely benign
(Jul 21, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002646544.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
|
Uncertain significance
(Jul 02, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV000839215.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
|
|
Uncertain significance
(Mar 03, 2008)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000108952.2
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
|
|
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: SCV001244146.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.351688541962465
|
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: SCV001244146.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5129G>A, a MISSENSE variant, produced a function score of -0.35, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5129G>A, a MISSENSE variant, produced a function score of -0.35, 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 |
---|---|---|---|---|
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing. | Guindalini RSC | Scientific reports | 2022 | PMID: 35264596 |
Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk. | Petitalot A | Molecular cancer research : MCR | 2019 | PMID: 30257991 |
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 rs398122691 ...
HelpRecord last updated Jun 23, 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.