chr10-119670168-C-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_004281.4(BAG3):c.498C>T(p.His166His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000975 in 1,609,460 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004281.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000269 AC: 41AN: 152248Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000876 AC: 21AN: 239668Hom.: 0 AF XY: 0.0000762 AC XY: 10AN XY: 131214
GnomAD4 exome AF: 0.0000734 AC: 107AN: 1457094Hom.: 3 Cov.: 34 AF XY: 0.0000648 AC XY: 47AN XY: 724826
GnomAD4 genome AF: 0.000328 AC: 50AN: 152366Hom.: 2 Cov.: 33 AF XY: 0.000336 AC XY: 25AN XY: 74508
ClinVar
Submissions by phenotype
not provided Benign:2
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Myofibrillar myopathy 6;C3151293:Dilated cardiomyopathy 1HH Benign:1
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Cardiovascular phenotype Benign:1
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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at