chr11-47346629-C-G
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_000256.3(MYBPC3):āc.924G>Cā(p.Pro308=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (ā ). Synonymous variant affecting the same amino acid position (i.e. P308P) has been classified as Likely benign.
Frequency
Consequence
NM_000256.3 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYBPC3 | NM_000256.3 | c.924G>C | p.Pro308= | splice_region_variant, synonymous_variant | 11/35 | ENST00000545968.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYBPC3 | ENST00000545968.6 | c.924G>C | p.Pro308= | splice_region_variant, synonymous_variant | 11/35 | 5 | NM_000256.3 | P4 | |
MYBPC3 | ENST00000399249.6 | c.924G>C | p.Pro308= | splice_region_variant, synonymous_variant | 10/34 | 5 | A2 | ||
MYBPC3 | ENST00000544791.1 | c.924G>C | p.Pro308= | splice_region_variant, synonymous_variant, NMD_transcript_variant | 11/27 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 11AN: 128992Hom.: 0 Cov.: 30 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00175 AC: 1220AN: 697806Hom.: 0 Cov.: 31 AF XY: 0.00153 AC XY: 546AN XY: 356828
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000930 AC: 12AN: 129076Hom.: 0 Cov.: 30 AF XY: 0.0000812 AC XY: 5AN XY: 61604
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Nov 01, 2022 | MYBPC3: BP4, BP7 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at