NM_201628.3:c.2180T>C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_201628.3(KAZN):c.2180T>C(p.Ile727Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000621 in 1,611,336 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
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KAZN | ENST00000376030.7 | c.2180T>C | p.Ile727Thr | missense_variant | Exon 15 of 15 | 5 | NM_201628.3 | ENSP00000365198.2 | ||
TMEM51-AS1 | ENST00000404665.4 | n.4301A>G | non_coding_transcript_exon_variant | Exon 5 of 5 | 1 | |||||
KAZN | ENST00000636203.1 | c.2444T>C | p.Ile815Thr | missense_variant | Exon 17 of 17 | 5 | ENSP00000490958.1 | |||
TMEM51-AS1 | ENST00000310916.6 | n.4428A>G | non_coding_transcript_exon_variant | Exon 6 of 6 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000810 AC: 2AN: 246968Hom.: 0 AF XY: 0.00000751 AC XY: 1AN XY: 133218
GnomAD4 exome AF: 0.00000617 AC: 9AN: 1459186Hom.: 0 Cov.: 30 AF XY: 0.00000551 AC XY: 4AN XY: 725544
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2180T>C (p.I727T) alteration is located in exon 15 (coding exon 15) of the KAZN gene. This alteration results from a T to C substitution at nucleotide position 2180, causing the isoleucine (I) at amino acid position 727 to be replaced by a threonine (T). 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