17-7218634-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001365.5(DLG4):c.25A>G(p.Arg9Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 10/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001365.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DLG4 | NM_001365.5 | c.25A>G | p.Arg9Gly | missense_variant | 2/22 | NP_001356.1 | ||
DLG4 | NM_001321074.1 | c.25A>G | p.Arg9Gly | missense_variant | 2/22 | NP_001308003.1 | ||
ACADVL | NM_001270447.2 | c.131+816T>C | intron_variant | NP_001257376.1 | ||||
DLG4 | NR_135527.1 | n.1226A>G | non_coding_transcript_exon_variant | 2/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DLG4 | ENST00000648172.8 | c.25A>G | p.Arg9Gly | missense_variant | 2/22 | ENSP00000497806.3 | ||||
DLG4 | ENST00000399510.8 | c.25A>G | p.Arg9Gly | missense_variant | 2/22 | 1 | ENSP00000382428.3 | |||
DLG4 | ENST00000491753.2 | n.25A>G | non_coding_transcript_exon_variant | 2/21 | 2 | ENSP00000467897.2 | ||||
ACADVL | ENST00000543245.6 | c.131+816T>C | intron_variant | 2 | ENSP00000438689.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Dec 04, 2023 | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.