16-90008910-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001042610.3(DBNDD1):c.193G>A(p.Val65Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00062 in 1,571,174 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001042610.3 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: 0.000486 AC: 74AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000510 AC: 105AN: 205782Hom.: 0 AF XY: 0.000431 AC XY: 48AN XY: 111328
GnomAD4 exome AF: 0.000634 AC: 900AN: 1418854Hom.: 1 Cov.: 32 AF XY: 0.000605 AC XY: 423AN XY: 698992
GnomAD4 genome AF: 0.000486 AC: 74AN: 152320Hom.: 0 Cov.: 33 AF XY: 0.000443 AC XY: 33AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.253G>A (p.V85I) alteration is located in exon 3 (coding exon 3) of the DBNDD1 gene. This alteration results from a G to A substitution at nucleotide position 253, causing the valine (V) at amino acid position 85 to be replaced by an isoleucine (I). 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