chr3-108394084-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014981.3(MYH15):c.5206G>A(p.Val1736Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,614,028 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014981.3 missense
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH15 | NM_014981.3 | c.5206G>A | p.Val1736Met | missense_variant | 36/41 | ENST00000693548.1 | |
MYH15 | XM_011512559.3 | c.5266G>A | p.Val1756Met | missense_variant | 38/43 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH15 | ENST00000693548.1 | c.5206G>A | p.Val1736Met | missense_variant | 36/41 | NM_014981.3 | P1 | ||
MYH15 | ENST00000273353.5 | c.5206G>A | p.Val1736Met | missense_variant | 37/42 | 1 | P1 | ||
MYH15 | ENST00000689784.1 | c.4225G>A | p.Val1409Met | missense_variant | 28/33 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152218Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249194Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135170
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461810Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727204
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152218Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2022 | The c.5266G>A (p.V1756M) alteration is located in exon 37 (coding exon 37) of the MYH15 gene. This alteration results from a G to A substitution at nucleotide position 5266, causing the valine (V) at amino acid position 1756 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at