12-123298029-C-G
Variant summary
Our verdict is Uncertain significance. The variant received 1 ACMG points: 2P and 1B. PM2BP4
The NM_001167856.3(SBNO1):c.3988G>C(p.Val1330Leu) variant causes a missense change. 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V1330M) has been classified as Uncertain significance.
Frequency
Consequence
NM_001167856.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SBNO1 | ENST00000602398.3 | c.3988G>C | p.Val1330Leu | missense_variant | Exon 31 of 32 | 5 | NM_001167856.3 | ENSP00000473665.1 | ||
SBNO1 | ENST00000420886.6 | c.3988G>C | p.Val1330Leu | missense_variant | Exon 30 of 31 | 1 | ENSP00000387361.2 | |||
SBNO1 | ENST00000267176.8 | c.3985G>C | p.Val1329Leu | missense_variant | Exon 31 of 32 | 5 | ENSP00000267176.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at