12-56155547-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002475.5(MYL6B):c.475G>A(p.Gly159Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,613,700 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002475.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYL6B | NM_002475.5 | c.475G>A | p.Gly159Ser | missense_variant | Exon 5 of 8 | ENST00000695999.1 | NP_002466.1 | |
MYL6B | NM_001199629.2 | c.475G>A | p.Gly159Ser | missense_variant | Exon 5 of 8 | NP_001186558.1 | ||
MYL6B-AS1 | NR_186043.1 | n.355+2087C>T | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152008Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 251000Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135688
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461692Hom.: 0 Cov.: 32 AF XY: 0.0000234 AC XY: 17AN XY: 727142
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152008Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74236
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.475G>A (p.G159S) alteration is located in exon 5 (coding exon 4) of the MYL6B gene. This alteration results from a G to A substitution at nucleotide position 475, causing the glycine (G) at amino acid position 159 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at