chr8-2052291-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_003970.4(MYOM2):c.241G>A(p.Glu81Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0148 in 1,605,502 control chromosomes in the GnomAD database, including 248 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003970.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYOM2 | NM_003970.4 | c.241G>A | p.Glu81Lys | missense_variant | 3/37 | ENST00000262113.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYOM2 | ENST00000262113.9 | c.241G>A | p.Glu81Lys | missense_variant | 3/37 | 1 | NM_003970.4 | P1 | |
MYOM2 | ENST00000523438.1 | c.-82+7123G>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0118 AC: 1800AN: 152214Hom.: 16 Cov.: 33
GnomAD3 exomes AF: 0.0159 AC: 3898AN: 245550Hom.: 39 AF XY: 0.0175 AC XY: 2329AN XY: 132720
GnomAD4 exome AF: 0.0151 AC: 21919AN: 1453170Hom.: 232 Cov.: 31 AF XY: 0.0157 AC XY: 11309AN XY: 722034
GnomAD4 genome ? AF: 0.0118 AC: 1803AN: 152332Hom.: 16 Cov.: 33 AF XY: 0.0124 AC XY: 927AN XY: 74478
ClinVar
Submissions by phenotype
MYOM2-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Mar 07, 2019 | This variant is classified as 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