rs564378953
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM1
The NM_000256.3(MYBPC3):c.2179G>T(p.Val727Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000821 in 1,461,382 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V727M) 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYBPC3 | NM_000256.3 | c.2179G>T | p.Val727Leu | missense_variant | 23/35 | ENST00000545968.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYBPC3 | ENST00000545968.6 | c.2179G>T | p.Val727Leu | missense_variant | 23/35 | 5 | NM_000256.3 | P4 | |
MYBPC3 | ENST00000399249.6 | c.2179G>T | p.Val727Leu | missense_variant | 22/34 | 5 | A2 | ||
MYBPC3 | ENST00000544791.1 | c.2179G>T | p.Val727Leu | missense_variant, NMD_transcript_variant | 23/27 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000807 AC: 2AN: 247856Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134594
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461382Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 726972
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at