9-127091715-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_012098.3(ANGPTL2):c.1237G>A(p.Gly413Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000301 in 1,461,802 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012098.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANGPTL2 | NM_012098.3 | c.1237G>A | p.Gly413Ser | missense_variant | Exon 4 of 5 | ENST00000373425.8 | NP_036230.1 | |
RALGPS1 | NM_014636.3 | c.610+22359C>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.1237G>A | p.Gly413Ser | missense_variant | Exon 4 of 5 | 1 | NM_012098.3 | ENSP00000362524.3 | ||
RALGPS1 | ENST00000259351.10 | c.610+22359C>T | intron_variant | Intron 8 of 18 | 1 | NM_014636.3 | ENSP00000259351.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250936Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135684
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461802Hom.: 0 Cov.: 31 AF XY: 0.0000289 AC XY: 21AN XY: 727202
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1237G>A (p.G413S) alteration is located in exon 4 (coding exon 3) of the ANGPTL2 gene. This alteration results from a G to A substitution at nucleotide position 1237, causing the glycine (G) at amino acid position 413 to be replaced by a serine (S). 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