chr10-119651868-C-T
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_004281.4(BAG3):c.180+13C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,543,432 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004281.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151910Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000368 AC: 6AN: 163170Hom.: 0 AF XY: 0.0000440 AC XY: 4AN XY: 90948
GnomAD4 exome AF: 0.0000129 AC: 18AN: 1391522Hom.: 0 Cov.: 31 AF XY: 0.0000203 AC XY: 14AN XY: 690194
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151910Hom.: 0 Cov.: 33 AF XY: 0.0000270 AC XY: 2AN XY: 74208
ClinVar
Submissions by phenotype
not specified Benign:2
180+13C>T in intron 1 of BAG3: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. 180+1 3C>T in intron 1 of BAG3 (allele frequency = n/a) -
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Myofibrillar myopathy 6;C3151293:Dilated cardiomyopathy 1HH Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at