19-828365-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001700.5(AZU1):c.194C>T(p.Ala65Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000271 in 1,589,476 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001700.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AZU1 | ENST00000233997.4 | c.194C>T | p.Ala65Val | missense_variant | Exon 2 of 5 | 1 | NM_001700.5 | ENSP00000233997.1 | ||
AZU1 | ENST00000592205.5 | c.8C>T | p.Ala3Val | missense_variant | Exon 2 of 4 | 2 | ENSP00000481172.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000215 AC: 5AN: 232272Hom.: 0 AF XY: 0.0000157 AC XY: 2AN XY: 127482
GnomAD4 exome AF: 0.0000285 AC: 41AN: 1438254Hom.: 0 Cov.: 32 AF XY: 0.0000238 AC XY: 17AN XY: 713284
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151222Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73822
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.194C>T (p.A65V) alteration is located in exon 2 (coding exon 2) of the AZU1 gene. This alteration results from a C to T substitution at nucleotide position 194, causing the alanine (A) at amino acid position 65 to be replaced by a valine (V). 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