2-210314998-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_079420.3(MYL1):c.45G>A(p.Ala15=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 1,606,256 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 (★). Synonymous variant affecting the same amino acid position (i.e. A15A) has been classified as Likely benign.
Frequency
Consequence
NM_079420.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYL1 | NM_079420.3 | c.45G>A | p.Ala15= | synonymous_variant | 1/7 | ENST00000352451.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYL1 | ENST00000352451.4 | c.45G>A | p.Ala15= | synonymous_variant | 1/7 | 1 | NM_079420.3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151872Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000250 AC: 6AN: 240294Hom.: 0 AF XY: 0.0000230 AC XY: 3AN XY: 130532
GnomAD4 exome AF: 0.0000131 AC: 19AN: 1454384Hom.: 0 Cov.: 31 AF XY: 0.0000166 AC XY: 12AN XY: 723654
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 151872Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74144
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jul 01, 2023 | MYL1: BP4, BP7 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at