17-7218275-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001365.5(DLG4):āc.125T>Gā(p.Leu42Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,457,000 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (ā ).
Frequency
Consequence
NM_001365.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.125T>G | p.Leu42Arg | missense_variant | 3/22 | NP_001356.1 | ||
DLG4 | NM_001321074.1 | c.125T>G | p.Leu42Arg | missense_variant | 3/22 | NP_001308003.1 | ||
ACADVL | NM_001270447.2 | c.131+457A>C | intron_variant | NP_001257376.1 | ||||
DLG4 | NR_135527.1 | n.1326T>G | non_coding_transcript_exon_variant | 3/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DLG4 | ENST00000648172.8 | c.125T>G | p.Leu42Arg | missense_variant | 3/22 | ENSP00000497806.3 | ||||
DLG4 | ENST00000491753.2 | n.125T>G | non_coding_transcript_exon_variant | 3/21 | 2 | ENSP00000467897.2 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1457000Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 724260
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Jun 13, 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