chr9-136362016-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001080849.3(DNLZ):c.533G>A(p.Ser178Asn) 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. 13/21 in silico tools predict 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. S178T) has been classified as Likely benign.
Frequency
Consequence
NM_001080849.3 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 | UniProt |
---|---|---|---|---|---|---|---|
DNLZ | NM_001080849.3 | c.533G>A | p.Ser178Asn | missense_variant | 3/3 | ENST00000371738.4 | |
DNLZ | NR_073565.2 | n.567G>A | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNLZ | ENST00000371738.4 | c.533G>A | p.Ser178Asn | missense_variant | 3/3 | 1 | NM_001080849.3 | P1 | |
DNLZ | ENST00000371739.3 | c.*39G>A | 3_prime_UTR_variant | 2/2 | 5 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1161616Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 558078
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at