2-25388223-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021907.5(DTNB):c.1714G>T(p.Val572Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000442 in 1,584,590 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_021907.5 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: 0.0000131 AC: 2AN: 152252Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000150 AC: 3AN: 200598Hom.: 0 AF XY: 0.0000185 AC XY: 2AN XY: 108234
GnomAD4 exome AF: 0.00000349 AC: 5AN: 1432220Hom.: 0 Cov.: 30 AF XY: 0.00000423 AC XY: 3AN XY: 709900
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152370Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74512
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 28, 2023 | The c.1714G>T (p.V572L) alteration is located in exon 17 (coding exon 16) of the DTNB gene. This alteration results from a G to T substitution at nucleotide position 1714, causing the valine (V) at amino acid position 572 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