12-122207281-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030765.4(B3GNT4):c.1030G>A(p.Gly344Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,613,876 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030765.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
B3GNT4 | NM_030765.4 | c.1030G>A | p.Gly344Arg | missense_variant | 3/3 | ENST00000324189.5 | |
B3GNT4 | NM_001330492.2 | c.955G>A | p.Gly319Arg | missense_variant | 2/2 | ||
B3GNT4 | XM_047429535.1 | c.955G>A | p.Gly319Arg | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
B3GNT4 | ENST00000324189.5 | c.1030G>A | p.Gly344Arg | missense_variant | 3/3 | 1 | NM_030765.4 | A2 | |
B3GNT4 | ENST00000535274.1 | c.955G>A | p.Gly319Arg | missense_variant | 1/1 | P2 | |||
B3GNT4 | ENST00000546192.1 | c.955G>A | p.Gly319Arg | missense_variant | 2/2 | 2 | P2 | ||
B3GNT4 | ENST00000545141.1 | n.74-415G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000723 AC: 11AN: 152112Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251052Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135710
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461764Hom.: 0 Cov.: 34 AF XY: 0.00000688 AC XY: 5AN XY: 727172
GnomAD4 genome ? AF: 0.0000723 AC: 11AN: 152112Hom.: 0 Cov.: 33 AF XY: 0.0000942 AC XY: 7AN XY: 74288
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 26, 2023 | The c.1030G>A (p.G344R) alteration is located in exon 3 (coding exon 2) of the B3GNT4 gene. This alteration results from a G to A substitution at nucleotide position 1030, causing the glycine (G) at amino acid position 344 to be replaced by an arginine (R). 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