rs3213451
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_015884.4(MBTPS2):c.222A>C(p.Gln74His) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/22 in silico tools predict a benign outcome for this variant. 3/3 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_015884.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MBTPS2 | ENST00000379484.10 | c.222A>C | p.Gln74His | missense_variant, splice_region_variant | Exon 2 of 11 | 1 | NM_015884.4 | ENSP00000368798.5 | ||
MBTPS2 | ENST00000365779.2 | c.222A>C | p.Gln74His | missense_variant, splice_region_variant | Exon 2 of 7 | 1 | ENSP00000368796.1 | |||
MBTPS2 | ENST00000465888.1 | n.321A>C | splice_region_variant, non_coding_transcript_exon_variant | Exon 2 of 6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at