11-65116834-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014205.4(ZNHIT2):c.820G>A(p.Gly274Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000622 in 1,608,130 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014205.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000289 AC: 44AN: 152248Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000631 AC: 15AN: 237690Hom.: 0 AF XY: 0.0000765 AC XY: 10AN XY: 130672
GnomAD4 exome AF: 0.0000385 AC: 56AN: 1455764Hom.: 0 Cov.: 34 AF XY: 0.0000414 AC XY: 30AN XY: 724144
GnomAD4 genome AF: 0.000289 AC: 44AN: 152366Hom.: 0 Cov.: 34 AF XY: 0.000309 AC XY: 23AN XY: 74510
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.820G>A (p.G274S) alteration is located in exon 1 (coding exon 1) of the ZNHIT2 gene. This alteration results from a G to A substitution at nucleotide position 820, causing the glycine (G) at amino acid position 274 to be replaced by a serine (S). 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