11-47346347-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000256.3(MYBPC3):c.950C>A(p.Ala317Glu) variant causes a missense change. The variant allele was found at a frequency of 0.000000689 in 1,450,608 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/22 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000256.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYBPC3 | NM_000256.3 | c.950C>A | p.Ala317Glu | missense_variant | 12/35 | ENST00000545968.6 | NP_000247.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYBPC3 | ENST00000545968.6 | c.950C>A | p.Ala317Glu | missense_variant | 12/35 | 5 | NM_000256.3 | ENSP00000442795 | P4 | |
MYBPC3 | ENST00000399249.6 | c.950C>A | p.Ala317Glu | missense_variant | 11/34 | 5 | ENSP00000382193 | A2 | ||
MYBPC3 | ENST00000544791.1 | c.950C>A | p.Ala317Glu | missense_variant, NMD_transcript_variant | 12/27 | 5 | ENSP00000444259 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000430 AC: 1AN: 232438Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 126268
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1450608Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 720374
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at