X-116172356-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000686.5(AGTR2):c.76T>C(p.Ser26Pro) 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. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000686.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AGTR2 | NM_000686.5 | c.76T>C | p.Ser26Pro | missense_variant | 3/3 | ENST00000371906.5 | NP_000677.2 | |
AGTR2 | NM_001385624.1 | c.76T>C | p.Ser26Pro | missense_variant | 2/2 | NP_001372553.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AGTR2 | ENST00000371906.5 | c.76T>C | p.Ser26Pro | missense_variant | 3/3 | 1 | NM_000686.5 | ENSP00000360973.4 | ||
AGTR2 | ENST00000681852.1 | c.76T>C | p.Ser26Pro | missense_variant | 2/2 | ENSP00000505750.1 | ||||
AGTR2 | ENST00000680409.1 | n.544T>C | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 26, 2022 | The c.76T>C (p.S26P) alteration is located in exon 3 (coding exon 1) of the AGTR2 gene. This alteration results from a T to C substitution at nucleotide position 76, causing the serine (S) at amino acid position 26 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.