9-127093792-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012098.3(ANGPTL2):c.952G>A(p.Val318Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000663 in 1,613,960 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012098.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANGPTL2 | NM_012098.3 | c.952G>A | p.Val318Ile | missense_variant | Exon 3 of 5 | ENST00000373425.8 | NP_036230.1 | |
RALGPS1 | NM_014636.3 | c.610+24436C>T | intron_variant | Intron 8 of 18 | ENST00000259351.10 | NP_055451.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANGPTL2 | ENST00000373425.8 | c.952G>A | p.Val318Ile | missense_variant | Exon 3 of 5 | 1 | NM_012098.3 | ENSP00000362524.3 | ||
RALGPS1 | ENST00000259351.10 | c.610+24436C>T | intron_variant | Intron 8 of 18 | 1 | NM_014636.3 | ENSP00000259351.5 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000437 AC: 11AN: 251458Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135900
GnomAD4 exome AF: 0.0000711 AC: 104AN: 1461868Hom.: 0 Cov.: 31 AF XY: 0.0000701 AC XY: 51AN XY: 727234
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152092Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74278
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.952G>A (p.V318I) alteration is located in exon 3 (coding exon 2) of the ANGPTL2 gene. This alteration results from a G to A substitution at nucleotide position 952, causing the valine (V) at amino acid position 318 to be replaced by an isoleucine (I). 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