8-122951946-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014943.5(ZHX2):c.436C>T(p.Arg146Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000589 in 1,614,016 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_014943.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000921 AC: 14AN: 152010Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251450Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135892
GnomAD4 exome AF: 0.0000554 AC: 81AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.0000454 AC XY: 33AN XY: 727246
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152128Hom.: 0 Cov.: 31 AF XY: 0.000148 AC XY: 11AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.436C>T (p.R146C) alteration is located in exon 3 (coding exon 1) of the ZHX2 gene. This alteration results from a C to T substitution at nucleotide position 436, causing the arginine (R) at amino acid position 146 to be replaced by a cysteine (C). 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