9-89325570-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001354702.2(SECISBP2):c.-522C>G variant causes a 5 prime UTR premature start codon gain 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001354702.2 5_prime_UTR_premature_start_codon_gain
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 |
---|---|---|---|---|---|---|---|---|---|---|
SECISBP2 | ENST00000375807.8 | c.326C>G | p.Ser109Cys | missense_variant | Exon 3 of 17 | 1 | NM_024077.5 | ENSP00000364965.3 | ||
SECISBP2 | ENST00000339901.8 | c.107C>G | p.Ser36Cys | missense_variant | Exon 3 of 17 | 1 | ENSP00000364959.3 | |||
SECISBP2 | ENST00000470305.1 | n.3371C>G | non_coding_transcript_exon_variant | Exon 1 of 3 | 1 | |||||
SECISBP2 | ENST00000534113.6 | c.122C>G | p.Ser41Cys | missense_variant | Exon 3 of 17 | 2 | ENSP00000436650.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.326C>G (p.S109C) alteration is located in exon 3 (coding exon 3) of the SECISBP2 gene. This alteration results from a C to G substitution at nucleotide position 326, causing the serine (S) at amino acid position 109 to be replaced by a cysteine (C). 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.