chrX-70445295-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021120.4(DLG3):c.94G>A(p.Asp32Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000951 in 1,051,069 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. D32D) has been classified as Likely benign.
Frequency
Consequence
NM_021120.4 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 |
---|---|---|---|---|---|---|---|
DLG3 | NM_021120.4 | c.94G>A | p.Asp32Asn | missense_variant | 1/19 | ENST00000374360.8 | |
DLG3 | XM_006724625.3 | c.94G>A | p.Asp32Asn | missense_variant | 1/20 | ||
DLG3 | XM_011530883.2 | c.94G>A | p.Asp32Asn | missense_variant | 1/19 | ||
DLG3 | XM_006724626.3 | c.94G>A | p.Asp32Asn | missense_variant | 1/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DLG3 | ENST00000374360.8 | c.94G>A | p.Asp32Asn | missense_variant | 1/19 | 1 | NM_021120.4 | ||
DLG3 | ENST00000194900.8 | c.94G>A | p.Asp32Asn | missense_variant | 1/21 | 5 | P1 | ||
DLG3 | ENST00000463252.5 | n.160G>A | non_coding_transcript_exon_variant | 1/19 | 5 |
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD3 exomes AF: 0.00000985 AC: 1AN: 101567Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 36219
GnomAD4 exome AF: 9.51e-7 AC: 1AN: 1051069Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 343255
GnomAD4 genome Cov.: 24
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Aug 25, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at