rs33990840
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000707.5(AVPR1B):c.571G>C(p.Gly191Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0459 in 1,613,466 control chromosomes in the GnomAD database, including 2,137 homozygotes. In-silico tool predicts a benign outcome for this variant. 7/10 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000707.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AVPR1B | NM_000707.5 | c.571G>C | p.Gly191Arg | missense_variant | 1/2 | ENST00000367126.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AVPR1B | ENST00000367126.5 | c.571G>C | p.Gly191Arg | missense_variant | 1/2 | 1 | NM_000707.5 | P1 | |
AVPR1B | ENST00000612906.1 | n.36+1344G>C | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0611 AC: 9299AN: 152130Hom.: 355 Cov.: 32
GnomAD3 exomes AF: 0.0500 AC: 12409AN: 248102Hom.: 411 AF XY: 0.0501 AC XY: 6757AN XY: 134804
GnomAD4 exome AF: 0.0443 AC: 64753AN: 1461218Hom.: 1782 Cov.: 34 AF XY: 0.0449 AC XY: 32616AN XY: 726950
GnomAD4 genome ? AF: 0.0612 AC: 9312AN: 152248Hom.: 355 Cov.: 32 AF XY: 0.0609 AC XY: 4531AN XY: 74450
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at