chr16-69245716-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006750.4(SNTB2):āc.695G>Cā(p.Gly232Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000684 in 1,461,884 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006750.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNTB2 | NM_006750.4 | c.695G>C | p.Gly232Ala | missense_variant | Exon 2 of 7 | ENST00000336278.9 | NP_006741.1 | |
SNTB2 | NR_172088.1 | n.784G>C | non_coding_transcript_exon_variant | Exon 3 of 8 | ||||
SNTB2 | NR_172089.1 | n.685G>C | non_coding_transcript_exon_variant | Exon 2 of 7 | ||||
SNTB2 | NR_172090.1 | n.698G>C | non_coding_transcript_exon_variant | Exon 2 of 6 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727240
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.695G>C (p.G232A) alteration is located in exon 2 (coding exon 2) of the SNTB2 gene. This alteration results from a G to C substitution at nucleotide position 695, causing the glycine (G) at amino acid position 232 to be replaced by an alanine (A). 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