rs12845035
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000686.5(AGTR2):c.*1103G>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 0.00000915 in 109,343 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AGTR2 | NM_000686.5 | c.*1103G>A | 3_prime_UTR_variant | 3/3 | ENST00000371906.5 | ||
AGTR2 | NM_001385624.1 | c.*1103G>A | 3_prime_UTR_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AGTR2 | ENST00000371906.5 | c.*1103G>A | 3_prime_UTR_variant | 3/3 | 1 | NM_000686.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000915 AC: 1AN: 109343Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 31673
GnomAD4 exome Cov.: 0
GnomAD4 genome ? AF: 0.00000915 AC: 1AN: 109343Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 31673
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at