rs34400049
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_018046.5(AGGF1):c.2092C>A(p.Pro698Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.269 in 1,613,404 control chromosomes in the GnomAD database, including 61,144 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_018046.5 missense
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AGGF1 | NM_018046.5 | c.2092C>A | p.Pro698Thr | missense_variant | 14/14 | ENST00000312916.12 | NP_060516.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AGGF1 | ENST00000312916.12 | c.2092C>A | p.Pro698Thr | missense_variant | 14/14 | 1 | NM_018046.5 | ENSP00000316109 | P1 |
Frequencies
GnomAD3 genomes AF: 0.227 AC: 34486AN: 151756Hom.: 4487 Cov.: 31
GnomAD3 exomes AF: 0.254 AC: 63729AN: 251232Hom.: 8725 AF XY: 0.251 AC XY: 34069AN XY: 135816
GnomAD4 exome AF: 0.274 AC: 400174AN: 1461528Hom.: 56660 Cov.: 40 AF XY: 0.270 AC XY: 196247AN XY: 727086
GnomAD4 genome AF: 0.227 AC: 34489AN: 151876Hom.: 4484 Cov.: 31 AF XY: 0.226 AC XY: 16767AN XY: 74226
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at