12-122206718-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030765.4(B3GNT4):āc.467T>Gā(p.Val156Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000298 in 1,609,454 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_030765.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
B3GNT4 | NM_030765.4 | c.467T>G | p.Val156Gly | missense_variant | Exon 3 of 3 | ENST00000324189.5 | NP_110392.1 | |
B3GNT4 | NM_001330492.2 | c.392T>G | p.Val131Gly | missense_variant | Exon 2 of 2 | NP_001317421.1 | ||
B3GNT4 | XM_047429535.1 | c.392T>G | p.Val131Gly | missense_variant | Exon 2 of 2 | XP_047285491.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152062Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000731 AC: 18AN: 246374Hom.: 0 AF XY: 0.000105 AC XY: 14AN XY: 133408
GnomAD4 exome AF: 0.0000309 AC: 45AN: 1457274Hom.: 0 Cov.: 30 AF XY: 0.0000455 AC XY: 33AN XY: 724588
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74388
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.467T>G (p.V156G) alteration is located in exon 3 (coding exon 2) of the B3GNT4 gene. This alteration results from a T to G substitution at nucleotide position 467, causing the valine (V) at amino acid position 156 to be replaced by a glycine (G). 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