rs142567411
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_000432.4(MYL2):c.274+23_274+26del variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000085 in 1,223,398 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 31)
Exomes 𝑓: 0.000085 ( 0 hom. )
Consequence
MYL2
NM_000432.4 intron
NM_000432.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.360
Genes affected
MYL2 (HGNC:7583): (myosin light chain 2) This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded protein is involved in cardiac myosin cycling kinetics, torsion and function in adults. Mutations in this gene are associated with hypertrophic cardiomyopathy 10 and infant-onset myopathy. [provided by RefSeq, May 2022]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BS2
?
High AC in GnomAdExome4 at 104 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYL2 | NM_000432.4 | c.274+23_274+26del | intron_variant | ENST00000228841.15 | |||
MYL2 | NM_001406745.1 | c.232+23_232+26del | intron_variant | ||||
MYL2 | NM_001406916.1 | c.217+23_217+26del | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYL2 | ENST00000228841.15 | c.274+23_274+26del | intron_variant | 1 | NM_000432.4 | P1 | |||
MYL2 | ENST00000548438.1 | c.232+23_232+26del | intron_variant | 3 | |||||
MYL2 | ENST00000663220.1 | c.217+23_217+26del | intron_variant | ||||||
MYL2 | ENST00000549029.1 | n.105+23_105+26del | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 genomes
?
Cov.:
31
GnomAD4 exome AF: 0.0000850 AC: 104AN: 1223398Hom.: 0 AF XY: 0.0000682 AC XY: 42AN XY: 615828
GnomAD4 exome
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AC:
104
AN:
1223398
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AC XY:
42
AN XY:
615828
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GnomAD4 genome ? Cov.: 31
GnomAD4 genome
?
Cov.:
31
ClinVar
Not reported inComputational scores
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at