chr22-50456591-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_002972.4(SBF1):c.3987G>C(p.Ala1329=) variant causes a 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A1329A) has been classified as Benign.
Frequency
Consequence
NM_002972.4 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 |
---|---|---|---|---|---|---|---|
SBF1 | NM_002972.4 | c.3987G>C | p.Ala1329= | synonymous_variant | 30/41 | ENST00000380817.8 | |
SBF1 | NM_001410794.1 | c.3990G>C | p.Ala1330= | synonymous_variant | 30/41 | ||
SBF1 | NM_001365819.1 | c.3912G>C | p.Ala1304= | synonymous_variant | 29/40 | ||
SBF1 | NM_001410795.1 | c.3909G>C | p.Ala1303= | synonymous_variant | 29/40 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SBF1 | ENST00000380817.8 | c.3987G>C | p.Ala1329= | synonymous_variant | 30/41 | 1 | NM_002972.4 | P3 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 40
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at