chr3-28338035-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022461.5(AZI2):āc.341A>Gā(p.Asn114Ser) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000712 in 1,404,734 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/22 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_022461.5 missense, splice_region
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AZI2 | NM_022461.5 | c.341A>G | p.Asn114Ser | missense_variant, splice_region_variant | 4/8 | ENST00000479665.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AZI2 | ENST00000479665.6 | c.341A>G | p.Asn114Ser | missense_variant, splice_region_variant | 4/8 | 2 | NM_022461.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000427 AC: 1AN: 234274Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 127262
GnomAD4 exome AF: 7.12e-7 AC: 1AN: 1404734Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 698976
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 13, 2023 | The c.341A>G (p.N114S) alteration is located in exon 4 (coding exon 3) of the AZI2 gene. This alteration results from a A to G substitution at nucleotide position 341, causing the asparagine (N) at amino acid position 114 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