17-10492426-C-T
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005963.4(MYH1):c.5810G>A(p.Ser1937Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000616 in 1,461,512 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S1937R) has been classified as Uncertain significance.
Frequency
Consequence
NM_005963.4 missense
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH1 | NM_005963.4 | c.5810G>A | p.Ser1937Asn | missense_variant | Exon 40 of 40 | ENST00000226207.6 | NP_005954.3 | |
MYH1 | XM_017024675.2 | c.5810G>A | p.Ser1937Asn | missense_variant | Exon 40 of 40 | XP_016880164.1 | ||
MYHAS | NR_125367.1 | n.168-75111C>T | intron_variant | Intron 2 of 10 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD2 exomes AF: 0.0000159 AC: 4AN: 251016 AF XY: 0.0000221 show subpopulations
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461512Hom.: 0 Cov.: 30 AF XY: 0.00000825 AC XY: 6AN XY: 727042 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at