20-874392-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_015985.4(ANGPT4):c.1243G>A(p.Gly415Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000806 in 1,613,556 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_015985.4 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 |
---|---|---|---|---|---|---|---|---|
ANGPT4 | NM_015985.4 | c.1243G>A | p.Gly415Ser | missense_variant | Exon 8 of 9 | ENST00000381922.5 | NP_057069.1 | |
ANGPT4 | XM_011529239.4 | c.1087G>A | p.Gly363Ser | missense_variant | Exon 7 of 8 | XP_011527541.1 | ||
ANGPT4 | NM_001322809.2 | c.1221-1272G>A | intron_variant | Intron 7 of 7 | NP_001309738.1 | |||
LOC124904854 | XR_007067485.1 | n.1329+251C>T | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251238Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135806
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461352Hom.: 0 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 726990
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1243G>A (p.G415S) alteration is located in exon 8 (coding exon 8) of the ANGPT4 gene. This alteration results from a G to A substitution at nucleotide position 1243, causing the glycine (G) at amino acid position 415 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