2-108247349-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001320878.2(SULT1C3):c.155C>A(p.Ala52Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,394,128 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001320878.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SULT1C3 | ENST00000681802.2 | c.155C>A | p.Ala52Glu | missense_variant | Exon 2 of 8 | NM_001320878.2 | ENSP00000505748.1 | |||
SULT1C3 | ENST00000329106.3 | c.155C>A | p.Ala52Glu | missense_variant | Exon 2 of 8 | 2 | ENSP00000333310.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1394128Hom.: 0 Cov.: 33 AF XY: 0.00000145 AC XY: 1AN XY: 690322
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.155C>A (p.A52E) alteration is located in exon 1 (coding exon 1) of the SULT1C3 gene. This alteration results from a C to A substitution at nucleotide position 155, causing the alanine (A) at amino acid position 52 to be replaced by a glutamic acid (E). 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
Publications
No publications associated with this variant yet.