12-80708011-G-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 1P and 10B. PP3BP4_StrongBP6_ModerateBS2
The NM_002469.3(MYF6):c.292G>T(p.Ala98Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000228 in 1,614,124 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. A98A) has been classified as Likely benign.
Frequency
Consequence
NM_002469.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYF6 | NM_002469.3 | c.292G>T | p.Ala98Ser | missense_variant | 1/3 | ENST00000228641.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYF6 | ENST00000228641.4 | c.292G>T | p.Ala98Ser | missense_variant | 1/3 | 1 | NM_002469.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000434 AC: 66AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000494 AC: 124AN: 250798Hom.: 3 AF XY: 0.000442 AC XY: 60AN XY: 135794
GnomAD4 exome AF: 0.000207 AC: 302AN: 1461874Hom.: 2 Cov.: 31 AF XY: 0.000190 AC XY: 138AN XY: 727238
GnomAD4 genome ? AF: 0.000433 AC: 66AN: 152250Hom.: 0 Cov.: 32 AF XY: 0.000725 AC XY: 54AN XY: 74438
ClinVar
Submissions by phenotype
Autosomal dominant centronuclear myopathy Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Sep 08, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at