19-1108509-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.3812C>Gā(p.Pro1271Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000197 in 1,219,880 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 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
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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 |
---|---|---|---|---|---|---|---|
SBNO2 | NM_014963.3 | c.3812C>G | p.Pro1271Arg | missense_variant | 32/32 | ENST00000361757.8 | |
SBNO2 | NM_001100122.2 | c.3641C>G | p.Pro1214Arg | missense_variant | 29/29 | ||
SBNO2 | XM_047438466.1 | c.2615C>G | p.Pro872Arg | missense_variant | 29/29 | ||
SBNO2 | XM_011527804.4 | c.*142C>G | 3_prime_UTR_variant | 32/32 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SBNO2 | ENST00000361757.8 | c.3812C>G | p.Pro1271Arg | missense_variant | 32/32 | 1 | NM_014963.3 | P2 | |
SBNO2 | ENST00000587024.5 | c.3782C>G | p.Pro1261Arg | missense_variant | 32/32 | 2 | A2 | ||
SBNO2 | ENST00000438103.6 | c.3641C>G | p.Pro1214Arg | missense_variant | 29/29 | 2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000334 AC: 5AN: 149896Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000178 AC: 19AN: 1069876Hom.: 0 Cov.: 33 AF XY: 0.0000196 AC XY: 10AN XY: 510888
GnomAD4 genome AF: 0.0000333 AC: 5AN: 150004Hom.: 0 Cov.: 33 AF XY: 0.0000410 AC XY: 3AN XY: 73226
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at