1-14960792-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_201628.3(KAZN):c.335C>A(p.Ser112Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000527 in 1,612,304 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_201628.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000567 AC: 14AN: 246980Hom.: 0 AF XY: 0.0000523 AC XY: 7AN XY: 133722
GnomAD4 exome AF: 0.0000514 AC: 75AN: 1460110Hom.: 0 Cov.: 31 AF XY: 0.0000578 AC XY: 42AN XY: 726174
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152194Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.335C>A (p.S112Y) alteration is located in exon 2 (coding exon 2) of the KAZN gene. This alteration results from a C to A substitution at nucleotide position 335, causing the serine (S) at amino acid position 112 to be replaced by a tyrosine (Y). 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