chr1-230714895-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000412344.1(ENSG00000244137):n.381-4042T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.132 in 152,230 control chromosomes in the GnomAD database, including 2,039 homozygotes. 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
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 |
---|---|---|---|---|---|---|---|
AGT | NM_001382817.3 | c.-30-4042T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000412344.1 | n.381-4042T>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
AGT | ENST00000681269.1 | c.-30-4042T>C | intron_variant | P1 |
Frequencies
GnomAD3 genomes AF: 0.132 AC: 20028AN: 152112Hom.: 2030 Cov.: 32
GnomAD4 genome AF: 0.132 AC: 20079AN: 152230Hom.: 2039 Cov.: 32 AF XY: 0.133 AC XY: 9934AN XY: 74434
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at