chr7-34989919-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001366673.1(DPY19L1):āc.787G>Cā(p.Val263Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,608,772 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001366673.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DPY19L1 | NM_001366673.1 | c.787G>C | p.Val263Leu | missense_variant | 7/22 | ENST00000638088.2 | |
DPY19L1 | NM_015283.2 | c.568G>C | p.Val190Leu | missense_variant | 7/22 | ||
DPY19L1 | XM_011515246.4 | c.787G>C | p.Val263Leu | missense_variant | 7/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DPY19L1 | ENST00000638088.2 | c.787G>C | p.Val263Leu | missense_variant | 7/22 | 5 | NM_001366673.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000246 AC: 6AN: 244194Hom.: 0 AF XY: 0.0000226 AC XY: 3AN XY: 132480
GnomAD4 exome AF: 0.00000755 AC: 11AN: 1456638Hom.: 0 Cov.: 30 AF XY: 0.00000552 AC XY: 4AN XY: 724380
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 17, 2023 | The c.568G>C (p.V190L) alteration is located in exon 7 (coding exon 7) of the DPY19L1 gene. This alteration results from a G to C substitution at nucleotide position 568, causing the valine (V) at amino acid position 190 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