11-62615709-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012200.4(B3GAT3):c.1000G>A(p.Glu334Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000131 in 152,244 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012200.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
B3GAT3 | ENST00000265471.10 | c.1000G>A | p.Glu334Lys | missense_variant | Exon 5 of 5 | 1 | NM_012200.4 | ENSP00000265471.5 | ||
B3GAT3 | ENST00000532585.5 | n.*1122G>A | non_coding_transcript_exon_variant | Exon 6 of 6 | 1 | ENSP00000432604.1 | ||||
B3GAT3 | ENST00000532585.5 | n.*1122G>A | 3_prime_UTR_variant | Exon 6 of 6 | 1 | ENSP00000432604.1 | ||||
B3GAT3 | ENST00000531383 | c.*477G>A | 3_prime_UTR_variant | Exon 5 of 5 | 2 | ENSP00000431359.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152244Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249616Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135202
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152244Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74382
ClinVar
Submissions by phenotype
Larsen-like syndrome, B3GAT3 type Uncertain:1
This sequence change replaces glutamic acid with lysine at codon 334 of the B3GAT3 protein (p.Glu334Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs762837360, ExAC 0.002%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with clinical features of multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects (PMID: 26633542). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at