rs730880943
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PM2PP3_Moderate
The NM_000432.4(MYL2):c.49G>C(p.Val17Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,638 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V17A) has been classified as Uncertain significance.
Frequency
Consequence
NM_000432.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYL2 | NM_000432.4 | c.49G>C | p.Val17Leu | missense_variant | 2/7 | ENST00000228841.15 | |
MYL2 | NM_001406745.1 | c.49G>C | p.Val17Leu | missense_variant | 2/6 | ||
MYL2 | NM_001406916.1 | c.-9G>C | 5_prime_UTR_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYL2 | ENST00000228841.15 | c.49G>C | p.Val17Leu | missense_variant | 2/7 | 1 | NM_000432.4 | P1 | |
MYL2 | ENST00000548438.1 | c.49G>C | p.Val17Leu | missense_variant | 2/6 | 3 | |||
MYL2 | ENST00000546404.1 | c.49G>C | p.Val17Leu | missense_variant | 2/2 | 2 | |||
MYL2 | ENST00000663220.1 | c.-9G>C | 5_prime_UTR_variant | 2/7 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251464Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135916
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461638Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727084
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at