rs147579680
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP5BS1_Supporting
The NM_173812.5(DPY19L2):c.869G>A(p.Arg290His) variant causes a missense change. The variant allele was found at a frequency of 0.000452 in 1,610,850 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R290P) has been classified 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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DPY19L2 | NM_173812.5 | c.869G>A | p.Arg290His | missense_variant | 8/22 | ENST00000324472.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DPY19L2 | ENST00000324472.9 | c.869G>A | p.Arg290His | missense_variant | 8/22 | 1 | NM_173812.5 | P1 | |
DPY19L2 | ENST00000306389.7 | c.*344+2345G>A | intron_variant, NMD_transcript_variant | 1 | |||||
ENST00000509615.2 | n.239-300G>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000224 AC: 34AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000172 AC: 43AN: 250618Hom.: 0 AF XY: 0.000177 AC XY: 24AN XY: 135490
GnomAD4 exome AF: 0.000476 AC: 694AN: 1458640Hom.: 1 Cov.: 30 AF XY: 0.000427 AC XY: 310AN XY: 725648
GnomAD4 genome ? AF: 0.000223 AC: 34AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74412
ClinVar
Submissions by phenotype
Spermatogenic failure 9 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 15, 2012 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at