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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.4227_4229dup, results in the insertion of 1 amino acid(s) to the BRCA1 protein (p.Glu1410dup), but otherwise preserves the integrity of the reading frame.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4227_4229dup (p.Glu1410_Met1411insGlu)
Germline
Classification
Help
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.
(1)
Help
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
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4227_4229dup (p.Glu1410_Met1411insGlu)
Variation ID: 1037303 Accession: VCV001037303.8
- Type and length
-
Duplication, 3 bp
- Location
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Cytogenetic: 17q21.31 17: 43082531-43082532 (GRCh38) [ NCBI UCSC ] 17: 41234548-41234549 (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 Mar 22, 2021 Feb 28, 2024 Sep 9, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4227_4229dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1410_Met1411insGlu inframe insertion NM_001407571.1:c.4013_4015dup NP_001394500.1:p.Glu1339_Met1340insGlu inframe indel NM_001407581.1:c.4226_4228dup NP_001394510.1:p.Glu1410_Met1411insGlu inframe indel NM_001407582.1:c.4226_4228dup NP_001394511.1:p.Glu1410_Met1411insGlu inframe indel NM_001407583.1:c.4226_4228dup NP_001394512.1:p.Glu1410_Met1411insGlu inframe indel NM_001407585.1:c.4226_4228dup NP_001394514.1:p.Glu1410_Met1411insGlu inframe indel NM_001407587.1:c.4223_4225dup NP_001394516.1:p.Glu1409_Met1410insGlu inframe indel NM_001407590.1:c.4223_4225dup NP_001394519.1:p.Glu1409_Met1410insGlu inframe indel NM_001407591.1:c.4223_4225dup NP_001394520.1:p.Glu1409_Met1410insGlu inframe indel NM_001407593.1:c.4226_4228dup NP_001394522.1:p.Glu1410_Met1411insGlu inframe indel NM_001407594.1:c.4226_4228dup NP_001394523.1:p.Glu1410_Met1411insGlu inframe indel NM_001407596.1:c.4226_4228dup NP_001394525.1:p.Glu1410_Met1411insGlu inframe indel NM_001407597.1:c.4226_4228dup NP_001394526.1:p.Glu1410_Met1411insGlu inframe indel NM_001407598.1:c.4226_4228dup NP_001394527.1:p.Glu1410_Met1411insGlu inframe indel NM_001407602.1:c.4226_4228dup NP_001394531.1:p.Glu1410_Met1411insGlu inframe indel NM_001407603.1:c.4226_4228dup NP_001394532.1:p.Glu1410_Met1411insGlu inframe indel NM_001407605.1:c.4226_4228dup NP_001394534.1:p.Glu1410_Met1411insGlu inframe indel NM_001407610.1:c.4223_4225dup NP_001394539.1:p.Glu1409_Met1410insGlu inframe indel NM_001407611.1:c.4223_4225dup NP_001394540.1:p.Glu1409_Met1410insGlu inframe indel NM_001407612.1:c.4223_4225dup NP_001394541.1:p.Glu1409_Met1410insGlu inframe indel NM_001407613.1:c.4223_4225dup NP_001394542.1:p.Glu1409_Met1410insGlu inframe indel NM_001407614.1:c.4223_4225dup NP_001394543.1:p.Glu1409_Met1410insGlu inframe indel NM_001407615.1:c.4223_4225dup NP_001394544.1:p.Glu1409_Met1410insGlu inframe indel NM_001407616.1:c.4226_4228dup NP_001394545.1:p.Glu1410_Met1411insGlu inframe indel NM_001407617.1:c.4226_4228dup NP_001394546.1:p.Glu1410_Met1411insGlu inframe indel NM_001407618.1:c.4226_4228dup NP_001394547.1:p.Glu1410_Met1411insGlu inframe indel NM_001407619.1:c.4226_4228dup NP_001394548.1:p.Glu1410_Met1411insGlu inframe indel NM_001407620.1:c.4226_4228dup NP_001394549.1:p.Glu1410_Met1411insGlu inframe indel NM_001407621.1:c.4226_4228dup NP_001394550.1:p.Glu1410_Met1411insGlu inframe indel NM_001407622.1:c.4226_4228dup NP_001394551.1:p.Glu1410_Met1411insGlu inframe indel NM_001407623.1:c.4226_4228dup NP_001394552.1:p.Glu1410_Met1411insGlu inframe indel NM_001407624.1:c.4223_4225dup NP_001394553.1:p.Glu1409_Met1410insGlu inframe indel NM_001407625.1:c.4223_4225dup NP_001394554.1:p.Glu1409_Met1410insGlu inframe indel NM_001407626.1:c.4223_4225dup NP_001394555.1:p.Glu1409_Met1410insGlu inframe indel NM_001407627.1:c.4220_4222dup NP_001394556.1:p.Glu1408_Met1409insGlu inframe indel NM_001407628.1:c.4220_4222dup NP_001394557.1:p.Glu1408_Met1409insGlu inframe indel NM_001407629.1:c.4220_4222dup NP_001394558.1:p.Glu1408_Met1409insGlu inframe indel NM_001407630.1:c.4220_4222dup NP_001394559.1:p.Glu1408_Met1409insGlu inframe indel NM_001407631.1:c.4220_4222dup NP_001394560.1:p.Glu1408_Met1409insGlu inframe indel NM_001407632.1:c.4220_4222dup NP_001394561.1:p.Glu1408_Met1409insGlu inframe indel NM_001407633.1:c.4223_4225dup NP_001394562.1:p.Glu1409_Met1410insGlu inframe indel NM_001407634.1:c.4223_4225dup NP_001394563.1:p.Glu1409_Met1410insGlu inframe indel NM_001407635.1:c.4223_4225dup NP_001394564.1:p.Glu1409_Met1410insGlu inframe indel NM_001407636.1:c.4223_4225dup NP_001394565.1:p.Glu1409_Met1410insGlu inframe indel NM_001407637.1:c.4223_4225dup NP_001394566.1:p.Glu1409_Met1410insGlu inframe indel NM_001407638.1:c.4223_4225dup NP_001394567.1:p.Glu1409_Met1410insGlu inframe indel NM_001407639.1:c.4223_4225dup NP_001394568.1:p.Glu1409_Met1410insGlu inframe indel NM_001407640.1:c.4223_4225dup NP_001394569.1:p.Glu1409_Met1410insGlu inframe indel NM_001407641.1:c.4223_4225dup NP_001394570.1:p.Glu1409_Met1410insGlu inframe indel NM_001407642.1:c.4223_4225dup NP_001394571.1:p.Glu1409_Met1410insGlu inframe indel NM_001407644.1:c.4220_4222dup NP_001394573.1:p.Glu1408_Met1409insGlu inframe indel NM_001407645.1:c.4220_4222dup NP_001394574.1:p.Glu1408_Met1409insGlu inframe indel NM_001407646.1:c.4214_4216dup NP_001394575.1:p.Glu1406_Met1407insGlu inframe indel NM_001407647.1:c.4214_4216dup NP_001394576.1:p.Glu1406_Met1407insGlu inframe indel NM_001407648.1:c.4103_4105dup NP_001394577.1:p.Glu1369_Met1370insGlu inframe indel NM_001407649.1:c.4100_4102dup NP_001394578.1:p.Glu1368_Met1369insGlu inframe indel NM_001407652.1:c.4226_4228dup NP_001394581.1:p.Glu1410_Met1411insGlu inframe indel NM_001407653.1:c.4148_4150dup NP_001394582.1:p.Glu1384_Met1385insGlu inframe indel NM_001407654.1:c.4148_4150dup NP_001394583.1:p.Glu1384_Met1385insGlu inframe indel NM_001407655.1:c.4148_4150dup NP_001394584.1:p.Glu1384_Met1385insGlu inframe indel NM_001407656.1:c.4145_4147dup NP_001394585.1:p.Glu1383_Met1384insGlu inframe indel NM_001407657.1:c.4148_4150dup NP_001394586.1:p.Glu1384_Met1385insGlu inframe indel NM_001407658.1:c.4148_4150dup NP_001394587.1:p.Glu1384_Met1385insGlu inframe indel NM_001407659.1:c.4142_4144dup NP_001394588.1:p.Glu1382_Met1383insGlu inframe indel NM_001407660.1:c.4142_4144dup NP_001394589.1:p.Glu1382_Met1383insGlu inframe indel NM_001407661.1:c.4145_4147dup NP_001394590.1:p.Glu1383_Met1384insGlu inframe indel NM_001407662.1:c.4145_4147dup NP_001394591.1:p.Glu1383_Met1384insGlu inframe indel NM_001407663.1:c.4145_4147dup NP_001394592.1:p.Glu1383_Met1384insGlu inframe indel NM_001407664.1:c.4103_4105dup NP_001394593.1:p.Glu1369_Met1370insGlu inframe indel NM_001407665.1:c.4103_4105dup NP_001394594.1:p.Glu1369_Met1370insGlu inframe indel NM_001407666.1:c.4103_4105dup NP_001394595.1:p.Glu1369_Met1370insGlu inframe indel NM_001407667.1:c.4103_4105dup NP_001394596.1:p.Glu1369_Met1370insGlu inframe indel NM_001407668.1:c.4103_4105dup NP_001394597.1:p.Glu1369_Met1370insGlu inframe indel NM_001407669.1:c.4103_4105dup NP_001394598.1:p.Glu1369_Met1370insGlu inframe indel NM_001407670.1:c.4100_4102dup NP_001394599.1:p.Glu1368_Met1369insGlu inframe indel NM_001407671.1:c.4100_4102dup NP_001394600.1:p.Glu1368_Met1369insGlu inframe indel NM_001407672.1:c.4100_4102dup NP_001394601.1:p.Glu1368_Met1369insGlu inframe indel NM_001407673.1:c.4100_4102dup NP_001394602.1:p.Glu1368_Met1369insGlu inframe indel NM_001407674.1:c.4100_4102dup NP_001394603.1:p.Glu1368_Met1369insGlu inframe indel NM_001407675.1:c.4100_4102dup NP_001394604.1:p.Glu1368_Met1369insGlu inframe indel NM_001407676.1:c.4100_4102dup NP_001394605.1:p.Glu1368_Met1369insGlu inframe indel NM_001407677.1:c.4103_4105dup NP_001394606.1:p.Glu1369_Met1370insGlu inframe indel NM_001407678.1:c.4103_4105dup NP_001394607.1:p.Glu1369_Met1370insGlu inframe indel NM_001407679.1:c.4103_4105dup NP_001394608.1:p.Glu1369_Met1370insGlu inframe indel NM_001407680.1:c.4103_4105dup NP_001394609.1:p.Glu1369_Met1370insGlu inframe indel NM_001407681.1:c.4100_4102dup NP_001394610.1:p.Glu1368_Met1369insGlu inframe indel NM_001407682.1:c.4100_4102dup NP_001394611.1:p.Glu1368_Met1369insGlu inframe indel NM_001407683.1:c.4100_4102dup NP_001394612.1:p.Glu1368_Met1369insGlu inframe indel NM_001407684.1:c.4226_4228dup NP_001394613.1:p.Glu1410_Met1411insGlu inframe indel NM_001407685.1:c.4097_4099dup NP_001394614.1:p.Glu1367_Met1368insGlu inframe indel NM_001407686.1:c.4097_4099dup NP_001394615.1:p.Glu1367_Met1368insGlu inframe indel NM_001407687.1:c.4097_4099dup NP_001394616.1:p.Glu1367_Met1368insGlu inframe indel NM_001407688.1:c.4100_4102dup NP_001394617.1:p.Glu1368_Met1369insGlu inframe indel NM_001407689.1:c.4100_4102dup NP_001394618.1:p.Glu1368_Met1369insGlu inframe indel NM_001407690.1:c.4097_4099dup NP_001394619.1:p.Glu1367_Met1368insGlu inframe indel NM_001407691.1:c.4097_4099dup NP_001394620.1:p.Glu1367_Met1368insGlu inframe indel NM_001407692.1:c.4085_4087dup NP_001394621.1:p.Glu1363_Met1364insGlu inframe indel NM_001407694.1:c.4085_4087dup NP_001394623.1:p.Glu1363_Met1364insGlu inframe indel NM_001407695.1:c.4085_4087dup NP_001394624.1:p.Glu1363_Met1364insGlu inframe indel NM_001407696.1:c.4085_4087dup NP_001394625.1:p.Glu1363_Met1364insGlu inframe indel NM_001407697.1:c.4085_4087dup NP_001394626.1:p.Glu1363_Met1364insGlu inframe indel NM_001407698.1:c.4085_4087dup NP_001394627.1:p.Glu1363_Met1364insGlu inframe indel NM_001407724.1:c.4085_4087dup NP_001394653.1:p.Glu1363_Met1364insGlu inframe indel NM_001407725.1:c.4085_4087dup NP_001394654.1:p.Glu1363_Met1364insGlu inframe indel NM_001407726.1:c.4085_4087dup NP_001394655.1:p.Glu1363_Met1364insGlu inframe indel NM_001407727.1:c.4085_4087dup NP_001394656.1:p.Glu1363_Met1364insGlu inframe indel NM_001407728.1:c.4085_4087dup NP_001394657.1:p.Glu1363_Met1364insGlu inframe indel NM_001407729.1:c.4085_4087dup NP_001394658.1:p.Glu1363_Met1364insGlu inframe indel NM_001407730.1:c.4085_4087dup NP_001394659.1:p.Glu1363_Met1364insGlu inframe indel NM_001407731.1:c.4085_4087dup NP_001394660.1:p.Glu1363_Met1364insGlu inframe indel NM_001407732.1:c.4085_4087dup NP_001394661.1:p.Glu1363_Met1364insGlu inframe indel NM_001407733.1:c.4085_4087dup NP_001394662.1:p.Glu1363_Met1364insGlu inframe indel NM_001407734.1:c.4085_4087dup NP_001394663.1:p.Glu1363_Met1364insGlu inframe indel NM_001407735.1:c.4085_4087dup NP_001394664.1:p.Glu1363_Met1364insGlu inframe indel NM_001407736.1:c.4085_4087dup NP_001394665.1:p.Glu1363_Met1364insGlu inframe indel NM_001407737.1:c.4085_4087dup NP_001394666.1:p.Glu1363_Met1364insGlu inframe indel NM_001407738.1:c.4085_4087dup NP_001394667.1:p.Glu1363_Met1364insGlu inframe indel NM_001407739.1:c.4085_4087dup NP_001394668.1:p.Glu1363_Met1364insGlu inframe indel NM_001407740.1:c.4082_4084dup NP_001394669.1:p.Glu1362_Met1363insGlu inframe indel NM_001407741.1:c.4082_4084dup NP_001394670.1:p.Glu1362_Met1363insGlu inframe indel NM_001407742.1:c.4082_4084dup NP_001394671.1:p.Glu1362_Met1363insGlu inframe indel NM_001407743.1:c.4082_4084dup NP_001394672.1:p.Glu1362_Met1363insGlu inframe indel NM_001407744.1:c.4082_4084dup NP_001394673.1:p.Glu1362_Met1363insGlu inframe indel NM_001407745.1:c.4082_4084dup NP_001394674.1:p.Glu1362_Met1363insGlu inframe indel NM_001407746.1:c.4082_4084dup NP_001394675.1:p.Glu1362_Met1363insGlu inframe indel NM_001407747.1:c.4082_4084dup NP_001394676.1:p.Glu1362_Met1363insGlu inframe indel NM_001407748.1:c.4082_4084dup NP_001394677.1:p.Glu1362_Met1363insGlu inframe indel NM_001407749.1:c.4082_4084dup NP_001394678.1:p.Glu1362_Met1363insGlu inframe indel NM_001407750.1:c.4082_4084dup NP_001394679.1:p.Glu1362_Met1363insGlu inframe indel NM_001407751.1:c.4082_4084dup NP_001394680.1:p.Glu1362_Met1363insGlu inframe indel NM_001407752.1:c.4082_4084dup NP_001394681.1:p.Glu1362_Met1363insGlu inframe indel NM_001407838.1:c.4082_4084dup NP_001394767.1:p.Glu1362_Met1363insGlu inframe indel NM_001407839.1:c.4082_4084dup NP_001394768.1:p.Glu1362_Met1363insGlu inframe indel NM_001407841.1:c.4082_4084dup NP_001394770.1:p.Glu1362_Met1363insGlu inframe indel NM_001407842.1:c.4082_4084dup NP_001394771.1:p.Glu1362_Met1363insGlu inframe indel NM_001407843.1:c.4082_4084dup NP_001394772.1:p.Glu1362_Met1363insGlu inframe indel NM_001407844.1:c.4082_4084dup NP_001394773.1:p.Glu1362_Met1363insGlu inframe indel NM_001407845.1:c.4082_4084dup NP_001394774.1:p.Glu1362_Met1363insGlu inframe indel NM_001407846.1:c.4082_4084dup NP_001394775.1:p.Glu1362_Met1363insGlu inframe indel NM_001407847.1:c.4079_4081dup NP_001394776.1:p.Glu1361_Met1362insGlu inframe indel NM_001407848.1:c.4079_4081dup NP_001394777.1:p.Glu1361_Met1362insGlu inframe indel NM_001407849.1:c.4079_4081dup NP_001394778.1:p.Glu1361_Met1362insGlu inframe indel NM_001407850.1:c.4082_4084dup NP_001394779.1:p.Glu1362_Met1363insGlu inframe indel NM_001407851.1:c.4082_4084dup NP_001394780.1:p.Glu1362_Met1363insGlu inframe indel NM_001407852.1:c.4082_4084dup NP_001394781.1:p.Glu1362_Met1363insGlu inframe indel NM_001407853.1:c.4013_4015dup NP_001394782.1:p.Glu1339_Met1340insGlu inframe indel NM_001407854.1:c.4226_4228dup NP_001394783.1:p.Glu1410_Met1411insGlu inframe indel NM_001407858.1:c.4226_4228dup NP_001394787.1:p.Glu1410_Met1411insGlu inframe indel NM_001407859.1:c.4226_4228dup NP_001394788.1:p.Glu1410_Met1411insGlu inframe indel NM_001407860.1:c.4223_4225dup NP_001394789.1:p.Glu1409_Met1410insGlu inframe indel NM_001407861.1:c.4223_4225dup NP_001394790.1:p.Glu1409_Met1410insGlu inframe indel NM_001407862.1:c.4025_4027dup NP_001394791.1:p.Glu1343_Met1344insGlu inframe indel NM_001407863.1:c.4103_4105dup NP_001394792.1:p.Glu1369_Met1370insGlu inframe indel NM_001407874.1:c.4022_4024dup NP_001394803.1:p.Glu1342_Met1343insGlu inframe indel NM_001407875.1:c.4022_4024dup NP_001394804.1:p.Glu1342_Met1343insGlu inframe indel NM_001407879.1:c.4016_4018dup NP_001394808.1:p.Glu1340_Met1341insGlu inframe indel NM_001407881.1:c.4016_4018dup NP_001394810.1:p.Glu1340_Met1341insGlu inframe indel NM_001407882.1:c.4016_4018dup NP_001394811.1:p.Glu1340_Met1341insGlu inframe indel NM_001407884.1:c.4016_4018dup NP_001394813.1:p.Glu1340_Met1341insGlu inframe indel NM_001407885.1:c.4016_4018dup NP_001394814.1:p.Glu1340_Met1341insGlu inframe indel NM_001407886.1:c.4016_4018dup NP_001394815.1:p.Glu1340_Met1341insGlu inframe indel NM_001407887.1:c.4016_4018dup NP_001394816.1:p.Glu1340_Met1341insGlu inframe indel NM_001407889.1:c.4016_4018dup NP_001394818.1:p.Glu1340_Met1341insGlu inframe indel NM_001407894.1:c.4013_4015dup NP_001394823.1:p.Glu1339_Met1340insGlu inframe indel NM_001407895.1:c.4013_4015dup NP_001394824.1:p.Glu1339_Met1340insGlu inframe indel NM_001407896.1:c.4013_4015dup NP_001394825.1:p.Glu1339_Met1340insGlu inframe indel NM_001407897.1:c.4013_4015dup NP_001394826.1:p.Glu1339_Met1340insGlu inframe indel NM_001407898.1:c.4013_4015dup NP_001394827.1:p.Glu1339_Met1340insGlu inframe indel NM_001407899.1:c.4013_4015dup NP_001394828.1:p.Glu1339_Met1340insGlu inframe indel NM_001407900.1:c.4016_4018dup NP_001394829.1:p.Glu1340_Met1341insGlu inframe indel NM_001407902.1:c.4016_4018dup NP_001394831.1:p.Glu1340_Met1341insGlu inframe indel NM_001407904.1:c.4016_4018dup NP_001394833.1:p.Glu1340_Met1341insGlu inframe indel NM_001407906.1:c.4016_4018dup NP_001394835.1:p.Glu1340_Met1341insGlu inframe indel NM_001407907.1:c.4013_4015dup NP_001394836.1:p.Glu1339_Met1340insGlu inframe indel NM_001407908.1:c.4013_4015dup NP_001394837.1:p.Glu1339_Met1340insGlu inframe indel NM_001407909.1:c.4013_4015dup NP_001394838.1:p.Glu1339_Met1340insGlu inframe indel NM_001407910.1:c.4013_4015dup NP_001394839.1:p.Glu1339_Met1340insGlu inframe indel NM_001407915.1:c.4010_4012dup NP_001394844.1:p.Glu1338_Met1339insGlu inframe indel NM_001407916.1:c.4013_4015dup NP_001394845.1:p.Glu1339_Met1340insGlu inframe indel NM_001407917.1:c.4013_4015dup NP_001394846.1:p.Glu1339_Met1340insGlu inframe indel NM_001407918.1:c.4013_4015dup NP_001394847.1:p.Glu1339_Met1340insGlu inframe indel NM_001407919.1:c.4103_4105dup NP_001394848.1:p.Glu1369_Met1370insGlu inframe indel NM_001407920.1:c.3962_3964dup NP_001394849.1:p.Glu1322_Met1323insGlu inframe indel NM_001407921.1:c.3962_3964dup NP_001394850.1:p.Glu1322_Met1323insGlu inframe indel NM_001407922.1:c.3962_3964dup NP_001394851.1:p.Glu1322_Met1323insGlu inframe indel NM_001407923.1:c.3962_3964dup NP_001394852.1:p.Glu1322_Met1323insGlu inframe indel NM_001407924.1:c.3962_3964dup NP_001394853.1:p.Glu1322_Met1323insGlu inframe indel NM_001407925.1:c.3962_3964dup NP_001394854.1:p.Glu1322_Met1323insGlu inframe indel NM_001407926.1:c.3962_3964dup NP_001394855.1:p.Glu1322_Met1323insGlu inframe indel NM_001407927.1:c.3962_3964dup NP_001394856.1:p.Glu1322_Met1323insGlu inframe indel NM_001407928.1:c.3962_3964dup NP_001394857.1:p.Glu1322_Met1323insGlu inframe indel NM_001407929.1:c.3962_3964dup NP_001394858.1:p.Glu1322_Met1323insGlu inframe indel NM_001407930.1:c.3959_3961dup NP_001394859.1:p.Glu1321_Met1322insGlu inframe indel NM_001407931.1:c.3959_3961dup NP_001394860.1:p.Glu1321_Met1322insGlu inframe indel NM_001407932.1:c.3959_3961dup NP_001394861.1:p.Glu1321_Met1322insGlu inframe indel NM_001407933.1:c.3959_3961dup NP_001394862.1:p.Glu1321_Met1322insGlu inframe indel NM_001407934.1:c.3956_3958dup NP_001394863.1:p.Glu1320_Met1321insGlu inframe indel NM_001407935.1:c.3959_3961dup NP_001394864.1:p.Glu1321_Met1322insGlu inframe indel NM_001407936.1:c.3959_3961dup NP_001394865.1:p.Glu1321_Met1322insGlu inframe indel NM_001407937.1:c.4103_4105dup NP_001394866.1:p.Glu1369_Met1370insGlu inframe indel NM_001407938.1:c.4103_4105dup NP_001394867.1:p.Glu1369_Met1370insGlu inframe indel NM_001407939.1:c.4103_4105dup NP_001394868.1:p.Glu1369_Met1370insGlu inframe indel NM_001407940.1:c.4100_4102dup NP_001394869.1:p.Glu1368_Met1369insGlu inframe indel NM_001407941.1:c.4100_4102dup NP_001394870.1:p.Glu1368_Met1369insGlu inframe indel NM_001407942.1:c.4085_4087dup NP_001394871.1:p.Glu1363_Met1364insGlu inframe indel NM_001407943.1:c.4082_4084dup NP_001394872.1:p.Glu1362_Met1363insGlu inframe indel NM_001407944.1:c.4085_4087dup NP_001394873.1:p.Glu1363_Met1364insGlu inframe indel NM_001407945.1:c.4085_4087dup NP_001394874.1:p.Glu1363_Met1364insGlu inframe indel NM_001407946.1:c.3893_3895dup NP_001394875.1:p.Glu1299_Met1300insGlu inframe indel NM_001407947.1:c.3893_3895dup NP_001394876.1:p.Glu1299_Met1300insGlu inframe indel NM_001407948.1:c.3893_3895dup NP_001394877.1:p.Glu1299_Met1300insGlu inframe indel NM_001407949.1:c.3893_3895dup NP_001394878.1:p.Glu1299_Met1300insGlu inframe indel NM_001407950.1:c.3893_3895dup NP_001394879.1:p.Glu1299_Met1300insGlu inframe indel NM_001407951.1:c.3893_3895dup NP_001394880.1:p.Glu1299_Met1300insGlu inframe indel NM_001407952.1:c.3890_3892dup NP_001394881.1:p.Glu1298_Met1299insGlu inframe indel NM_001407953.1:c.3890_3892dup NP_001394882.1:p.Glu1298_Met1299insGlu inframe indel NM_001407954.1:c.3890_3892dup NP_001394883.1:p.Glu1298_Met1299insGlu inframe indel NM_001407955.1:c.3890_3892dup NP_001394884.1:p.Glu1298_Met1299insGlu inframe indel NM_001407956.1:c.3887_3889dup NP_001394885.1:p.Glu1297_Met1298insGlu inframe indel NM_001407957.1:c.3890_3892dup NP_001394886.1:p.Glu1298_Met1299insGlu inframe indel NM_001407958.1:c.3890_3892dup NP_001394887.1:p.Glu1298_Met1299insGlu inframe indel NM_001407959.1:c.3845_3847dup NP_001394888.1:p.Glu1283_Met1284insGlu inframe indel NM_001407960.1:c.3845_3847dup NP_001394889.1:p.Glu1283_Met1284insGlu inframe indel NM_001407962.1:c.3842_3844dup NP_001394891.1:p.Glu1282_Met1283insGlu inframe indel NM_001407963.1:c.3842_3844dup NP_001394892.1:p.Glu1282_Met1283insGlu inframe indel NM_001407964.1:c.4082_4084dup NP_001394893.1:p.Glu1362_Met1363insGlu inframe indel NM_001407965.1:c.3719_3721dup NP_001394894.1:p.Glu1241_Met1242insGlu inframe indel NM_001407966.1:c.3338_3340dup NP_001394895.1:p.Glu1114_Met1115insGlu inframe indel NM_001407967.1:c.3338_3340dup NP_001394896.1:p.Glu1114_Met1115insGlu inframe indel NM_001407968.1:c.1622_1624dup NP_001394897.1:p.Glu542_Met543insGlu inframe indel NM_001407969.1:c.1619_1621dup NP_001394898.1:p.Glu541_Met542insGlu inframe indel NM_001407970.1:c.917_919dup NP_001394899.1:p.Glu307_Met308insGlu inframe indel NM_001407971.1:c.917_919dup NP_001394900.1:p.Glu307_Met308insGlu inframe indel NM_001407972.1:c.914_916dup NP_001394901.1:p.Glu306_Met307insGlu inframe indel NM_001407973.1:c.917_919dup NP_001394902.1:p.Glu307_Met308insGlu inframe indel NM_001407974.1:c.917_919dup NP_001394903.1:p.Glu307_Met308insGlu inframe indel NM_001407975.1:c.917_919dup NP_001394904.1:p.Glu307_Met308insGlu inframe indel NM_001407976.1:c.917_919dup NP_001394905.1:p.Glu307_Met308insGlu inframe indel NM_001407977.1:c.917_919dup NP_001394906.1:p.Glu307_Met308insGlu inframe indel NM_001407978.1:c.917_919dup NP_001394907.1:p.Glu307_Met308insGlu inframe indel NM_001407979.1:c.914_916dup NP_001394908.1:p.Glu306_Met307insGlu inframe indel NM_001407980.1:c.914_916dup NP_001394909.1:p.Glu306_Met307insGlu inframe indel NM_001407981.1:c.914_916dup NP_001394910.1:p.Glu306_Met307insGlu inframe indel NM_001407982.1:c.914_916dup NP_001394911.1:p.Glu306_Met307insGlu inframe indel NM_001407983.1:c.914_916dup NP_001394912.1:p.Glu306_Met307insGlu inframe indel NM_001407984.1:c.914_916dup NP_001394913.1:p.Glu306_Met307insGlu inframe indel NM_001407985.1:c.914_916dup NP_001394914.1:p.Glu306_Met307insGlu inframe indel NM_001407986.1:c.914_916dup NP_001394915.1:p.Glu306_Met307insGlu inframe indel NM_001407990.1:c.914_916dup NP_001394919.1:p.Glu306_Met307insGlu inframe indel NM_001407991.1:c.914_916dup NP_001394920.1:p.Glu306_Met307insGlu inframe indel NM_001407992.1:c.914_916dup NP_001394921.1:p.Glu306_Met307insGlu inframe indel NM_001407993.1:c.917_919dup NP_001394922.1:p.Glu307_Met308insGlu inframe indel NM_001408392.1:c.914_916dup NP_001395321.1:p.Glu306_Met307insGlu inframe indel NM_001408396.1:c.914_916dup NP_001395325.1:p.Glu306_Met307insGlu inframe indel NM_001408397.1:c.914_916dup NP_001395326.1:p.Glu306_Met307insGlu inframe indel NM_001408398.1:c.914_916dup NP_001395327.1:p.Glu306_Met307insGlu inframe indel NM_001408399.1:c.914_916dup NP_001395328.1:p.Glu306_Met307insGlu inframe indel NM_001408400.1:c.911_913dup NP_001395329.1:p.Glu305_Met306insGlu inframe indel NM_001408401.1:c.911_913dup NP_001395330.1:p.Glu305_Met306insGlu inframe indel NM_001408402.1:c.911_913dup NP_001395331.1:p.Glu305_Met306insGlu inframe indel NM_001408403.1:c.914_916dup NP_001395332.1:p.Glu306_Met307insGlu inframe indel NM_001408404.1:c.914_916dup NP_001395333.1:p.Glu306_Met307insGlu inframe indel NM_001408406.1:c.908_910dup NP_001395335.1:p.Glu304_Met305insGlu inframe indel NM_001408407.1:c.911_913dup NP_001395336.1:p.Glu305_Met306insGlu inframe indel NM_001408408.1:c.908_910dup NP_001395337.1:p.Glu304_Met305insGlu inframe indel NM_001408409.1:c.839_841dup NP_001395338.1:p.Glu281_Met282insGlu inframe indel NM_001408410.1:c.776_778dup NP_001395339.1:p.Glu260_Met261insGlu inframe indel NM_001408411.1:c.839_841dup NP_001395340.1:p.Glu281_Met282insGlu inframe indel NM_001408412.1:c.839_841dup NP_001395341.1:p.Glu281_Met282insGlu inframe indel NM_001408413.1:c.836_838dup NP_001395342.1:p.Glu280_Met281insGlu inframe indel NM_001408414.1:c.839_841dup NP_001395343.1:p.Glu281_Met282insGlu inframe indel NM_001408415.1:c.839_841dup NP_001395344.1:p.Glu281_Met282insGlu inframe indel NM_001408416.1:c.836_838dup NP_001395345.1:p.Glu280_Met281insGlu inframe indel NM_001408418.1:c.800_802dup NP_001395347.1:p.Glu268_Met269insGlu inframe indel NM_001408419.1:c.800_802dup NP_001395348.1:p.Glu268_Met269insGlu inframe indel NM_001408420.1:c.800_802dup NP_001395349.1:p.Glu268_Met269insGlu inframe indel NM_001408421.1:c.797_799dup NP_001395350.1:p.Glu267_Met268insGlu inframe indel NM_001408422.1:c.800_802dup NP_001395351.1:p.Glu268_Met269insGlu inframe indel NM_001408423.1:c.800_802dup NP_001395352.1:p.Glu268_Met269insGlu inframe indel NM_001408424.1:c.797_799dup NP_001395353.1:p.Glu267_Met268insGlu inframe indel NM_001408425.1:c.794_796dup NP_001395354.1:p.Glu266_Met267insGlu inframe indel NM_001408426.1:c.794_796dup NP_001395355.1:p.Glu266_Met267insGlu inframe indel NM_001408427.1:c.794_796dup NP_001395356.1:p.Glu266_Met267insGlu inframe indel NM_001408428.1:c.794_796dup NP_001395357.1:p.Glu266_Met267insGlu inframe indel NM_001408429.1:c.794_796dup NP_001395358.1:p.Glu266_Met267insGlu inframe indel NM_001408430.1:c.794_796dup NP_001395359.1:p.Glu266_Met267insGlu inframe indel NM_001408431.1:c.797_799dup NP_001395360.1:p.Glu267_Met268insGlu inframe indel NM_001408432.1:c.791_793dup NP_001395361.1:p.Glu265_Met266insGlu inframe indel NM_001408433.1:c.791_793dup NP_001395362.1:p.Glu265_Met266insGlu inframe indel NM_001408434.1:c.791_793dup NP_001395363.1:p.Glu265_Met266insGlu inframe indel NM_001408435.1:c.791_793dup NP_001395364.1:p.Glu265_Met266insGlu inframe indel NM_001408436.1:c.794_796dup NP_001395365.1:p.Glu266_Met267insGlu inframe indel NM_001408437.1:c.794_796dup NP_001395366.1:p.Glu266_Met267insGlu inframe indel NM_001408438.1:c.794_796dup NP_001395367.1:p.Glu266_Met267insGlu inframe indel NM_001408439.1:c.794_796dup NP_001395368.1:p.Glu266_Met267insGlu inframe indel NM_001408440.1:c.794_796dup NP_001395369.1:p.Glu266_Met267insGlu inframe indel NM_001408441.1:c.791_793dup NP_001395370.1:p.Glu265_Met266insGlu inframe indel NM_001408442.1:c.791_793dup NP_001395371.1:p.Glu265_Met266insGlu inframe indel NM_001408443.1:c.791_793dup NP_001395372.1:p.Glu265_Met266insGlu inframe indel NM_001408444.1:c.791_793dup NP_001395373.1:p.Glu265_Met266insGlu inframe indel NM_001408445.1:c.791_793dup NP_001395374.1:p.Glu265_Met266insGlu inframe indel NM_001408446.1:c.791_793dup NP_001395375.1:p.Glu265_Met266insGlu inframe indel NM_001408447.1:c.791_793dup NP_001395376.1:p.Glu265_Met266insGlu inframe indel NM_001408448.1:c.791_793dup NP_001395377.1:p.Glu265_Met266insGlu inframe indel NM_001408450.1:c.791_793dup NP_001395379.1:p.Glu265_Met266insGlu inframe indel NM_001408451.1:c.782_784dup NP_001395380.1:p.Glu262_Met263insGlu inframe indel NM_001408452.1:c.776_778dup NP_001395381.1:p.Glu260_Met261insGlu inframe indel NM_001408453.1:c.776_778dup NP_001395382.1:p.Glu260_Met261insGlu inframe indel NM_001408454.1:c.776_778dup NP_001395383.1:p.Glu260_Met261insGlu inframe indel NM_001408455.1:c.776_778dup NP_001395384.1:p.Glu260_Met261insGlu inframe indel NM_001408456.1:c.776_778dup NP_001395385.1:p.Glu260_Met261insGlu inframe indel NM_001408457.1:c.776_778dup NP_001395386.1:p.Glu260_Met261insGlu inframe indel NM_001408458.1:c.776_778dup NP_001395387.1:p.Glu260_Met261insGlu inframe indel NM_001408459.1:c.776_778dup NP_001395388.1:p.Glu260_Met261insGlu inframe indel NM_001408460.1:c.776_778dup NP_001395389.1:p.Glu260_Met261insGlu inframe indel NM_001408461.1:c.776_778dup NP_001395390.1:p.Glu260_Met261insGlu inframe indel NM_001408462.1:c.773_775dup NP_001395391.1:p.Glu259_Met260insGlu inframe indel NM_001408463.1:c.773_775dup NP_001395392.1:p.Glu259_Met260insGlu inframe indel NM_001408464.1:c.773_775dup NP_001395393.1:p.Glu259_Met260insGlu inframe indel NM_001408465.1:c.773_775dup NP_001395394.1:p.Glu259_Met260insGlu inframe indel NM_001408466.1:c.773_775dup NP_001395395.1:p.Glu259_Met260insGlu inframe indel NM_001408467.1:c.773_775dup NP_001395396.1:p.Glu259_Met260insGlu inframe indel NM_001408468.1:c.773_775dup NP_001395397.1:p.Glu259_Met260insGlu inframe indel NM_001408469.1:c.773_775dup NP_001395398.1:p.Glu259_Met260insGlu inframe indel NM_001408470.1:c.770_772dup NP_001395399.1:p.Glu258_Met259insGlu inframe indel NM_001408472.1:c.914_916dup NP_001395401.1:p.Glu306_Met307insGlu inframe indel NM_001408473.1:c.914_916dup NP_001395402.1:p.Glu306_Met307insGlu inframe indel NM_001408474.1:c.716_718dup NP_001395403.1:p.Glu240_Met241insGlu inframe indel NM_001408475.1:c.713_715dup NP_001395404.1:p.Glu239_Met240insGlu inframe indel NM_001408476.1:c.716_718dup NP_001395405.1:p.Glu240_Met241insGlu inframe indel NM_001408478.1:c.707_709dup NP_001395407.1:p.Glu237_Met238insGlu inframe indel NM_001408479.1:c.707_709dup NP_001395408.1:p.Glu237_Met238insGlu inframe indel NM_001408480.1:c.707_709dup NP_001395409.1:p.Glu237_Met238insGlu inframe indel NM_001408481.1:c.707_709dup NP_001395410.1:p.Glu237_Met238insGlu inframe indel NM_001408482.1:c.707_709dup NP_001395411.1:p.Glu237_Met238insGlu inframe indel NM_001408483.1:c.707_709dup NP_001395412.1:p.Glu237_Met238insGlu inframe indel NM_001408484.1:c.707_709dup NP_001395413.1:p.Glu237_Met238insGlu inframe indel NM_001408485.1:c.707_709dup NP_001395414.1:p.Glu237_Met238insGlu inframe indel NM_001408489.1:c.704_706dup NP_001395418.1:p.Glu236_Met237insGlu inframe indel NM_001408490.1:c.704_706dup NP_001395419.1:p.Glu236_Met237insGlu inframe indel NM_001408491.1:c.704_706dup NP_001395420.1:p.Glu236_Met237insGlu inframe indel NM_001408492.1:c.704_706dup NP_001395421.1:p.Glu236_Met237insGlu inframe indel NM_001408493.1:c.704_706dup NP_001395422.1:p.Glu236_Met237insGlu inframe indel NM_001408494.1:c.677_679dup NP_001395423.1:p.Glu227_Met228insGlu inframe indel NM_001408495.1:c.674_676dup NP_001395424.1:p.Glu226_Met227insGlu inframe indel NM_001408496.1:c.653_655dup NP_001395425.1:p.Glu219_Met220insGlu inframe indel NM_001408497.1:c.653_655dup NP_001395426.1:p.Glu219_Met220insGlu inframe indel NM_001408498.1:c.653_655dup NP_001395427.1:p.Glu219_Met220insGlu inframe indel NM_001408499.1:c.653_655dup NP_001395428.1:p.Glu219_Met220insGlu inframe indel NM_001408500.1:c.653_655dup NP_001395429.1:p.Glu219_Met220insGlu inframe indel NM_001408501.1:c.653_655dup NP_001395430.1:p.Glu219_Met220insGlu inframe indel NM_001408502.1:c.584_586dup NP_001395431.1:p.Glu196_Met197insGlu inframe indel NM_001408503.1:c.650_652dup NP_001395432.1:p.Glu218_Met219insGlu inframe indel NM_001408504.1:c.650_652dup NP_001395433.1:p.Glu218_Met219insGlu inframe indel NM_001408505.1:c.650_652dup NP_001395434.1:p.Glu218_Met219insGlu inframe indel NM_001408506.1:c.590_592dup NP_001395435.1:p.Glu198_Met199insGlu inframe indel NM_001408507.1:c.587_589dup NP_001395436.1:p.Glu197_Met198insGlu inframe indel NM_001408508.1:c.578_580dup NP_001395437.1:p.Glu194_Met195insGlu inframe indel NM_001408509.1:c.578_580dup NP_001395438.1:p.Glu194_Met195insGlu inframe indel NM_001408510.1:c.536_538dup NP_001395439.1:p.Glu180_Met181insGlu inframe indel NM_001408511.1:c.533_535dup NP_001395440.1:p.Glu179_Met180insGlu inframe indel NM_001408512.1:c.413_415dup NP_001395441.1:p.Glu139_Met140insGlu inframe indel NM_001408513.1:c.704_706dup NP_001395442.1:p.Glu236_Met237insGlu inframe indel NM_001408514.1:c.707_709dup NP_001395443.1:p.Glu237_Met238insGlu inframe indel NM_007297.4:c.4086_4088dup NP_009228.2:p.Glu1363_Met1364insGlu inframe insertion NM_007298.4:c.917_919dup NP_009229.2:p.Glu307_Met308insGlu inframe indel NM_007299.4:c.918_920dup NP_009230.2:p.Glu307_Met308insGlu inframe insertion NM_007300.4:c.4227_4229dup NP_009231.2:p.Glu1410_Met1411insGlu inframe insertion NM_007304.2:c.917_919dup NP_009235.2:p.Glu307_Met308insGlu inframe indel NR_027676.2:n.4404_4406dup non-coding transcript variant NC_000017.11:g.43082533_43082535dup NC_000017.10:g.41234550_41234552dup NG_005905.2:g.135450_135452dup LRG_292:g.135450_135452dup LRG_292t1:c.4226_4228dup LRG_292p1:p.Glu1410_Met1411insGlu - Protein change
- -
- Other names
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- Canonical SPDI
- NC_000017.11:43082531:TCCT:TCCTCCT
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- 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. |
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| 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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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| Uncertain significance (1) |
criteria provided, single submitter
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Sep 9, 2020 | RCV001340434.8 |
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
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Sep 09, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001534243.4
First in ClinVar: Mar 22, 2021 Last updated: Feb 28, 2024 |
Comment:
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 … (more)
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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.4227_4229dup, results in the insertion of 1 amino acid(s) to the BRCA1 protein (p.Glu1410dup), but otherwise preserves the integrity of the reading frame. (less)
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Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.4227_4229dup, results in the insertion of 1 amino acid(s) to the BRCA1 protein (p.Glu1410dup), but otherwise preserves the integrity of the reading frame.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs2053062886 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 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.