rs376118927
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_002476.2(MYL4):c.488-5C>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000135 in 1,614,042 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_002476.2 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000743 AC: 113AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000259 AC: 65AN: 251440Hom.: 0 AF XY: 0.000221 AC XY: 30AN XY: 135894
GnomAD4 exome AF: 0.0000718 AC: 105AN: 1461784Hom.: 0 Cov.: 31 AF XY: 0.0000660 AC XY: 48AN XY: 727220
GnomAD4 genome AF: 0.000742 AC: 113AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.000672 AC XY: 50AN XY: 74432
ClinVar
Submissions by phenotype
Atrial fibrillation, familial, 18 Benign:1
- -
MYL4-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at