19-1108479-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014963.3(SBNO2):āc.3842C>Gā(p.Ser1281Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000932 in 1,072,606 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014963.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SBNO2 | NM_014963.3 | c.3842C>G | p.Ser1281Cys | missense_variant | 32/32 | ENST00000361757.8 | |
SBNO2 | NM_001100122.2 | c.3671C>G | p.Ser1224Cys | missense_variant | 29/29 | ||
SBNO2 | XM_047438466.1 | c.2645C>G | p.Ser882Cys | missense_variant | 29/29 | ||
SBNO2 | XM_011527804.4 | c.*172C>G | 3_prime_UTR_variant | 32/32 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SBNO2 | ENST00000361757.8 | c.3842C>G | p.Ser1281Cys | missense_variant | 32/32 | 1 | NM_014963.3 | P2 | |
SBNO2 | ENST00000587024.5 | c.3812C>G | p.Ser1271Cys | missense_variant | 32/32 | 2 | A2 | ||
SBNO2 | ENST00000438103.6 | c.3671C>G | p.Ser1224Cys | missense_variant | 29/29 | 2 | A2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 9.32e-7 AC: 1AN: 1072606Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 513298
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.