2-210314998-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_079420.3(MYL1):āc.45G>Cā(p.Ala15=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000168 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 (ā ). 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>C | 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>C | p.Ala15= | synonymous_variant | 1/7 | 1 | NM_079420.3 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151872Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000416 AC: 1AN: 240294Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 130532
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1454384Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 723654
GnomAD4 genome AF: 0.0000329 AC: 5AN: 151872Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74144
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jan 01, 2023 | MYL1: BP4, BP7 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at