rs17231450
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000686.5(AGTR2):c.*1318C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00416 in 110,727 control chromosomes in the GnomAD database, including 3 homozygotes. There are 129 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000686.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AGTR2 | NM_000686.5 | c.*1318C>A | 3_prime_UTR_variant | 3/3 | ENST00000371906.5 | ||
AGTR2 | NM_001385624.1 | c.*1318C>A | 3_prime_UTR_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AGTR2 | ENST00000371906.5 | c.*1318C>A | 3_prime_UTR_variant | 3/3 | 1 | NM_000686.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00417 AC: 462AN: 110678Hom.: 3 Cov.: 22 AF XY: 0.00392 AC XY: 129AN XY: 32926
GnomAD4 exome Cov.: 0
GnomAD4 genome AF: 0.00416 AC: 461AN: 110727Hom.: 3 Cov.: 22 AF XY: 0.00391 AC XY: 129AN XY: 32985
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at