chrX-153905901-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 6P and 1B. PM1PM2PM5BP4
The NM_000054.7(AVPR2):c.395C>T(p.Ala132Val) 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. 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. A132D) has been classified as Pathogenic.
Frequency
Consequence
NM_000054.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AVPR2 | NM_000054.7 | c.395C>T | p.Ala132Val | missense_variant | 3/4 | ENST00000646375.2 | |
AVPR2 | NM_001146151.3 | c.395C>T | p.Ala132Val | missense_variant | 3/3 | ||
AVPR2 | NR_027419.2 | n.466-118C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AVPR2 | ENST00000646375.2 | c.395C>T | p.Ala132Val | missense_variant | 3/4 | NM_000054.7 | P1 |
Frequencies
GnomAD3 genomes Cov.: 26
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1089581Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 360617
GnomAD4 genome Cov.: 26
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at