chr16-15823409-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_002474.3(MYH11):c.348G>C(p.Thr116=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. T116T) has been classified as Likely benign.
Frequency
Consequence
NM_002474.3 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH11 | NM_002474.3 | c.348G>C | p.Thr116= | splice_region_variant, synonymous_variant | 3/41 | ENST00000300036.6 | |
MYH11 | NM_001040113.2 | c.348G>C | p.Thr116= | splice_region_variant, synonymous_variant | 3/43 | ENST00000452625.7 | |
MYH11 | NM_001040114.2 | c.348G>C | p.Thr116= | splice_region_variant, synonymous_variant | 3/42 | ||
MYH11 | NM_022844.3 | c.348G>C | p.Thr116= | splice_region_variant, synonymous_variant | 3/42 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH11 | ENST00000300036.6 | c.348G>C | p.Thr116= | splice_region_variant, synonymous_variant | 3/41 | 1 | NM_002474.3 | P3 | |
MYH11 | ENST00000452625.7 | c.348G>C | p.Thr116= | splice_region_variant, synonymous_variant | 3/43 | 1 | NM_001040113.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at