20-3082797-A-T
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PM1PM2PM5PP3_StrongPP5_Moderate
The NM_000490.5(AVP):c.328T>A(p.Cys110Ser) 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 pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C110Y) has been classified as Likely pathogenic.
Frequency
Consequence
NM_000490.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AVP | NM_000490.5 | c.328T>A | p.Cys110Ser | missense_variant | 3/3 | ENST00000380293.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AVP | ENST00000380293.3 | c.328T>A | p.Cys110Ser | missense_variant | 3/3 | 1 | NM_000490.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1094158Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 522606
GnomAD4 genome ? Cov.: 34
ClinVar
Submissions by phenotype
Neurohypophyseal diabetes insipidus Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | MVZ Medizinische Genetik Mainz | Oct 05, 2021 | ACMG Criteria: PM1_STR, PM5_SUP, PM2_SUP, PP3, PP4 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.