chr1-230710047-CA-AC
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001384479.1(AGT):c.776_777delTGinsGT(p.Met259Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. M259T) has been classified as Benign.
Frequency
Consequence
NM_001384479.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AGT | NM_001384479.1 | c.776_777delTGinsGT | p.Met259Ser | missense_variant | ENST00000366667.6 | NP_001371408.1 | ||
AGT | NM_001382817.3 | c.776_777delTGinsGT | p.Met259Ser | missense_variant | NP_001369746.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AGT | ENST00000366667.6 | c.776_777delTGinsGT | p.Met259Ser | missense_variant | 1 | NM_001384479.1 | ENSP00000355627.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.