NM_201628.3:c.2113C>T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_201628.3(KAZN):c.2113C>T(p.Arg705Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000412 in 1,456,924 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R705P) has been classified 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 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KAZN | ENST00000376030.7 | c.2113C>T | p.Arg705Trp | missense_variant | Exon 14 of 15 | 5 | NM_201628.3 | ENSP00000365198.2 | ||
TMEM51-AS1 | ENST00000404665.4 | n.6297G>A | non_coding_transcript_exon_variant | Exon 5 of 5 | 1 | |||||
KAZN | ENST00000636203.1 | c.2377C>T | p.Arg793Trp | missense_variant | Exon 16 of 17 | 5 | ENSP00000490958.1 | |||
TMEM51-AS1 | ENST00000310916.6 | n.6424G>A | non_coding_transcript_exon_variant | Exon 6 of 6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000167 AC: 4AN: 239888Hom.: 0 AF XY: 0.0000231 AC XY: 3AN XY: 129858
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1456924Hom.: 0 Cov.: 31 AF XY: 0.00000690 AC XY: 5AN XY: 724118
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2113C>T (p.R705W) alteration is located in exon 14 (coding exon 14) of the KAZN gene. This alteration results from a C to T substitution at nucleotide position 2113, causing the arginine (R) at amino acid position 705 to be replaced by a tryptophan (W). 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