rs876657
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_002470.4(MYH3):c.2151C>T(p.Gly717=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000199 in 1,606,912 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. G717G) has been classified as Benign.
Frequency
Consequence
NM_002470.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH3 | NM_002470.4 | c.2151C>T | p.Gly717= | synonymous_variant | 19/41 | ENST00000583535.6 | |
MYH3 | XM_011523870.4 | c.2151C>T | p.Gly717= | synonymous_variant | 19/41 | ||
MYH3 | XM_011523871.3 | c.2151C>T | p.Gly717= | synonymous_variant | 19/41 | ||
MYH3 | XM_047436127.1 | c.2151C>T | p.Gly717= | synonymous_variant | 21/43 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH3 | ENST00000583535.6 | c.2151C>T | p.Gly717= | synonymous_variant | 19/41 | 5 | NM_002470.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151930Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000598 AC: 15AN: 250886Hom.: 0 AF XY: 0.0000811 AC XY: 11AN XY: 135660
GnomAD4 exome AF: 0.0000206 AC: 30AN: 1454864Hom.: 0 Cov.: 35 AF XY: 0.0000262 AC XY: 19AN XY: 724216
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 152048Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74344
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 21, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at