1-2529522-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001010926.4(HES5):c.448G>A(p.Ala150Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000514 in 1,050,554 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict 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. A150D) has been classified as Uncertain significance.
Frequency
Consequence
NM_001010926.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000170 AC: 25AN: 147464Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000321 AC: 29AN: 902984Hom.: 0 Cov.: 27 AF XY: 0.0000379 AC XY: 16AN XY: 422270
GnomAD4 genome AF: 0.000169 AC: 25AN: 147570Hom.: 0 Cov.: 33 AF XY: 0.000139 AC XY: 10AN XY: 71946
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.448G>A (p.A150T) alteration is located in exon 3 (coding exon 3) of the HES5 gene. This alteration results from a G to A substitution at nucleotide position 448, causing the alanine (A) at amino acid position 150 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