chr12-123326191-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PP2BP4
The NM_001167856.3(SBNO1):c.1836G>C(p.Arg612Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000236 in 1,611,736 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001167856.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SBNO1 | NM_001167856.3 | c.1836G>C | p.Arg612Ser | missense_variant | 14/32 | ENST00000602398.3 | |
SBNO1 | NM_018183.5 | c.1833G>C | p.Arg611Ser | missense_variant | 14/32 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SBNO1 | ENST00000602398.3 | c.1836G>C | p.Arg612Ser | missense_variant | 14/32 | 5 | NM_001167856.3 | P4 | |
SBNO1 | ENST00000420886.6 | c.1836G>C | p.Arg612Ser | missense_variant | 13/31 | 1 | P4 | ||
SBNO1 | ENST00000267176.8 | c.1833G>C | p.Arg611Ser | missense_variant | 14/32 | 5 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250460Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135364
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1459596Hom.: 0 Cov.: 32 AF XY: 0.0000220 AC XY: 16AN XY: 726080
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 12, 2023 | The c.1836G>C (p.R612S) alteration is located in exon 13 (coding exon 13) of the SBNO1 gene. This alteration results from a G to C substitution at nucleotide position 1836, causing the arginine (R) at amino acid position 612 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at