8-2057454-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The ENST00000262113.9(MYOM2):c.370G>A(p.Asp124Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000845 in 1,614,058 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
ENST00000262113.9 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYOM2 | NM_003970.4 | c.370G>A | p.Asp124Asn | missense_variant | 4/37 | ENST00000262113.9 | NP_003961.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYOM2 | ENST00000262113.9 | c.370G>A | p.Asp124Asn | missense_variant | 4/37 | 1 | NM_003970.4 | ENSP00000262113 | P1 | |
MYOM2 | ENST00000523438.1 | c.-82+12286G>A | intron_variant | 2 | ENSP00000428396 |
Frequencies
GnomAD3 genomes AF: 0.000552 AC: 84AN: 152228Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000946 AC: 237AN: 250604Hom.: 0 AF XY: 0.00114 AC XY: 155AN XY: 135576
GnomAD4 exome AF: 0.000875 AC: 1279AN: 1461712Hom.: 3 Cov.: 71 AF XY: 0.000971 AC XY: 706AN XY: 727154
GnomAD4 genome AF: 0.000558 AC: 85AN: 152346Hom.: 0 Cov.: 33 AF XY: 0.000577 AC XY: 43AN XY: 74496
ClinVar
Submissions by phenotype
MYOM2-related disorder Benign:1
Likely benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Mar 09, 2022 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at