NM_021021.4:c.908G>C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_021021.4(SNTB1):c.908G>C(p.Arg303Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,614,006 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021021.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNTB1 | NM_021021.4 | c.908G>C | p.Arg303Pro | missense_variant | Exon 3 of 7 | ENST00000517992.2 | NP_066301.1 | |
SNTB1 | XM_011517239.3 | c.908G>C | p.Arg303Pro | missense_variant | Exon 3 of 5 | XP_011515541.1 | ||
SNTB1 | XM_047422126.1 | c.329G>C | p.Arg110Pro | missense_variant | Exon 3 of 7 | XP_047278082.1 | ||
SNTB1 | XM_047422127.1 | c.329G>C | p.Arg110Pro | missense_variant | Exon 3 of 7 | XP_047278083.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251438Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135886
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727242
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.908G>C (p.R303P) alteration is located in exon 3 (coding exon 3) of the SNTB1 gene. This alteration results from a G to C substitution at nucleotide position 908, causing the arginine (R) at amino acid position 303 to be replaced by a proline (P). 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