16-69187536-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_006750.4(SNTB2):c.370G>A(p.Gly124Ser) variant causes a missense change involving the alteration of a conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006750.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNTB2 | NM_006750.4 | c.370G>A | p.Gly124Ser | missense_variant | Exon 1 of 7 | ENST00000336278.9 | NP_006741.1 | |
SNTB2 | NR_172088.1 | n.373G>A | non_coding_transcript_exon_variant | Exon 1 of 8 | ||||
SNTB2 | NR_172089.1 | n.373G>A | non_coding_transcript_exon_variant | Exon 1 of 7 | ||||
SNTB2 | NR_172090.1 | n.373G>A | non_coding_transcript_exon_variant | Exon 1 of 6 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 149890Hom.: 0 Cov.: 31 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1255812Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 611538
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 149890Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73034
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.370G>A (p.G124S) alteration is located in exon 1 (coding exon 1) of the SNTB2 gene. This alteration results from a G to A substitution at nucleotide position 370, causing the glycine (G) at amino acid position 124 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