11-47335891-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000256.3(MYBPC3):c.2723A>C(p.Tyr908Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000726 in 1,377,856 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. Y908C) has been classified as Uncertain significance.
Frequency
Consequence
NM_000256.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYBPC3 | NM_000256.3 | c.2723A>C | p.Tyr908Ser | missense_variant | 26/35 | ENST00000545968.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYBPC3 | ENST00000545968.6 | c.2723A>C | p.Tyr908Ser | missense_variant | 26/35 | 5 | NM_000256.3 | P4 | |
MYBPC3 | ENST00000399249.6 | c.2723A>C | p.Tyr908Ser | missense_variant | 25/34 | 5 | A2 | ||
MYBPC3 | ENST00000544791.1 | c.*228A>C | 3_prime_UTR_variant, NMD_transcript_variant | 26/27 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome AF: 7.26e-7 AC: 1AN: 1377856Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 678638
GnomAD4 genome ? Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at