chr12-122206824-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030765.4(B3GNT4):c.573C>A(p.Phe191Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00012 in 1,612,880 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
B3GNT4 | NM_030765.4 | c.573C>A | p.Phe191Leu | missense_variant | Exon 3 of 3 | ENST00000324189.5 | NP_110392.1 | |
B3GNT4 | NM_001330492.2 | c.498C>A | p.Phe166Leu | missense_variant | Exon 2 of 2 | NP_001317421.1 | ||
B3GNT4 | XM_047429535.1 | c.498C>A | p.Phe166Leu | missense_variant | Exon 2 of 2 | XP_047285491.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000440 AC: 11AN: 249980Hom.: 0 AF XY: 0.0000592 AC XY: 8AN XY: 135190
GnomAD4 exome AF: 0.000130 AC: 190AN: 1460676Hom.: 0 Cov.: 30 AF XY: 0.000127 AC XY: 92AN XY: 726624
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.573C>A (p.F191L) alteration is located in exon 3 (coding exon 2) of the B3GNT4 gene. This alteration results from a C to A substitution at nucleotide position 573, causing the phenylalanine (F) at amino acid position 191 to be replaced by a leucine (L). 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