chr7-117363612-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_130768.3(ASZ1):c.1412C>G(p.Thr471Ser) variant causes a missense 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. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_130768.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASZ1 | NM_130768.3 | c.1412C>G | p.Thr471Ser | missense_variant | Exon 13 of 13 | ENST00000284629.7 | NP_570124.1 | |
ASZ1 | NM_001301821.2 | c.1385C>G | p.Thr462Ser | missense_variant | Exon 13 of 13 | NP_001288750.1 | ||
ASZ1 | NM_001301822.2 | c.788C>G | p.Thr263Ser | missense_variant | Exon 12 of 12 | NP_001288751.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1412C>G (p.T471S) alteration is located in exon 13 (coding exon 13) of the ASZ1 gene. This alteration results from a C to G substitution at nucleotide position 1412, causing the threonine (T) at amino acid position 471 to be replaced by a serine (S). 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