NM_017534.6:c.*51C>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017534.6(MYH2):c.*51C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000829 in 1,447,104 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_017534.6 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH2 | NM_017534.6 | c.*51C>T | 3_prime_UTR_variant | Exon 40 of 40 | ENST00000245503.10 | NP_060004.3 | ||
MYH2 | NM_001100112.2 | c.*51C>T | 3_prime_UTR_variant | Exon 40 of 40 | NP_001093582.1 | |||
MYHAS | NR_125367.1 | n.168-46308G>A | intron_variant | Intron 2 of 10 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251304Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135814
GnomAD4 exome AF: 0.00000829 AC: 12AN: 1447104Hom.: 0 Cov.: 27 AF XY: 0.00000555 AC XY: 4AN XY: 720960
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at