1-93870780-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014597.5(DNTTIP2):c.2080G>C(p.Val694Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000174 in 1,549,622 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_014597.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152078Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000330 AC: 6AN: 181978Hom.: 0 AF XY: 0.0000311 AC XY: 3AN XY: 96618
GnomAD4 exome AF: 0.0000172 AC: 24AN: 1397544Hom.: 0 Cov.: 28 AF XY: 0.0000188 AC XY: 13AN XY: 691262
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152078Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2080G>C (p.V694L) alteration is located in exon 6 (coding exon 6) of the DNTTIP2 gene. This alteration results from a G to C substitution at nucleotide position 2080, causing the valine (V) at amino acid position 694 to be replaced by a leucine (L). 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