17-10641167-G-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 7P and 1B. PM1PP2PP3_StrongBS2_Supporting
The NM_002470.4(MYH3):c.2083C>T(p.Arg695Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000041 in 1,461,780 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. R695Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_002470.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH3 | NM_002470.4 | c.2083C>T | p.Arg695Trp | missense_variant | 19/41 | ENST00000583535.6 | |
MYH3 | XM_011523870.4 | c.2083C>T | p.Arg695Trp | missense_variant | 19/41 | ||
MYH3 | XM_011523871.3 | c.2083C>T | p.Arg695Trp | missense_variant | 19/41 | ||
MYH3 | XM_047436127.1 | c.2083C>T | p.Arg695Trp | missense_variant | 21/43 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH3 | ENST00000583535.6 | c.2083C>T | p.Arg695Trp | missense_variant | 19/41 | 5 | NM_002470.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251466Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135910
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461780Hom.: 0 Cov.: 36 AF XY: 0.00000688 AC XY: 5AN XY: 727180
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at