rs372003076
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001270764.2(CHST15):c.1234G>T(p.Ala412Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A412T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001270764.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CHST15 | ENST00000435907.6 | c.1234G>T | p.Ala412Ser | missense_variant | Exon 6 of 8 | 1 | NM_001270764.2 | ENSP00000402394.1 | ||
CHST15 | ENST00000346248.7 | c.1234G>T | p.Ala412Ser | missense_variant | Exon 6 of 8 | 1 | ENSP00000333947.6 | |||
CHST15 | ENST00000628426.1 | c.1234G>T | p.Ala412Ser | missense_variant | Exon 6 of 6 | 2 | ENSP00000485905.1 | |||
CHST15 | ENST00000476765.1 | n.149G>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at