15-40363779-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033510.3(DISP2):c.274C>T(p.His92Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00102 in 1,613,572 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033510.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000762 AC: 116AN: 152254Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000515 AC: 129AN: 250576Hom.: 0 AF XY: 0.000539 AC XY: 73AN XY: 135456
GnomAD4 exome AF: 0.00105 AC: 1531AN: 1461200Hom.: 0 Cov.: 35 AF XY: 0.000969 AC XY: 704AN XY: 726880
GnomAD4 genome AF: 0.000761 AC: 116AN: 152372Hom.: 0 Cov.: 33 AF XY: 0.000617 AC XY: 46AN XY: 74512
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.274C>T (p.H92Y) alteration is located in exon 2 (coding exon 2) of the DISP2 gene. This alteration results from a C to T substitution at nucleotide position 274, causing the histidine (H) at amino acid position 92 to be replaced by a tyrosine (Y). 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