rs760400365
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_173812.5(DPY19L2):c.2120G>C(p.Arg707Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000935 in 1,593,780 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173812.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152030Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000134 AC: 3AN: 224006Hom.: 0 AF XY: 0.0000164 AC XY: 2AN XY: 121888
GnomAD4 exome AF: 0.000103 AC: 148AN: 1441750Hom.: 0 Cov.: 30 AF XY: 0.0000865 AC XY: 62AN XY: 716586
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152030Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74256
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.2120G>C (p.R707T) alteration is located in exon 21 (coding exon 21) of the DPY19L2 gene. This alteration results from a G to C substitution at nucleotide position 2120, causing the arginine (R) at amino acid position 707 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