2-108382415-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_006588.4(SULT1C4):c.326C>A(p.Pro109Gln) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006588.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SULT1C4 | ENST00000272452.7 | c.326C>A | p.Pro109Gln | missense_variant | Exon 3 of 7 | 1 | NM_006588.4 | ENSP00000272452.2 | ||
SULT1C4 | ENST00000409309.3 | c.295+528C>A | intron_variant | Intron 2 of 4 | 1 | ENSP00000387225.3 | ||||
SULT1C4 | ENST00000494122.1 | n.1250C>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.326C>A (p.P109Q) alteration is located in exon 3 (coding exon 3) of the SULT1C4 gene. This alteration results from a C to A substitution at nucleotide position 326, causing the proline (P) at amino acid position 109 to be replaced by a glutamine (Q). 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