1-2529688-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001010926.4(HES5):c.282G>T(p.Trp94Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000473 in 1,309,832 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_001010926.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000267 AC: 4AN: 150046Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000141 AC: 1AN: 70768Hom.: 0 AF XY: 0.0000242 AC XY: 1AN XY: 41246
GnomAD4 exome AF: 0.0000500 AC: 58AN: 1159786Hom.: 0 Cov.: 32 AF XY: 0.0000443 AC XY: 25AN XY: 564416
GnomAD4 genome AF: 0.0000267 AC: 4AN: 150046Hom.: 0 Cov.: 32 AF XY: 0.0000137 AC XY: 1AN XY: 73192
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.282G>T (p.W94C) alteration is located in exon 3 (coding exon 3) of the HES5 gene. This alteration results from a G to T substitution at nucleotide position 282, causing the tryptophan (W) at amino acid position 94 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