17-49132804-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001159387.2(B4GALNT2):c.12C>T(p.Gly4Gly) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000572 in 1,223,484 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001159387.2 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
B4GALNT2 | ENST00000393354.7 | c.12C>T | p.Gly4Gly | splice_region_variant, synonymous_variant | Exon 1 of 11 | 1 | NM_001159387.2 | ENSP00000377022.3 | ||
B4GALNT2 | ENST00000504681.5 | c.-65+294C>T | intron_variant | Intron 1 of 10 | 2 | ENSP00000425510.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000572 AC: 7AN: 1223484Hom.: 0 Cov.: 30 AF XY: 0.00000677 AC XY: 4AN XY: 590844
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at