17-7218550-C-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001365.5(DLG4):c.109G>T(p.Ala37Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000163 in 1,408,266 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A37T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001365.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DLG4 | NM_001365.5 | c.109G>T | p.Ala37Ser | missense_variant | Exon 2 of 22 | NP_001356.1 | ||
DLG4 | NM_001321074.1 | c.109G>T | p.Ala37Ser | missense_variant | Exon 2 of 22 | NP_001308003.1 | ||
ACADVL | NM_001270447.2 | c.131+732C>A | intron_variant | Intron 2 of 20 | NP_001257376.1 | |||
DLG4 | NR_135527.1 | n.1310G>T | non_coding_transcript_exon_variant | Exon 2 of 21 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000596 AC: 1AN: 167756Hom.: 0 AF XY: 0.0000112 AC XY: 1AN XY: 89376
GnomAD4 exome AF: 0.0000163 AC: 23AN: 1408266Hom.: 0 Cov.: 31 AF XY: 0.0000144 AC XY: 10AN XY: 695424
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at