19-10093552-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031917.3(ANGPTL6):c.1019G>A(p.Arg340His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000508 in 1,613,868 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031917.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANGPTL6 | NM_031917.3 | c.1019G>A | p.Arg340His | missense_variant | 5/6 | ENST00000253109.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANGPTL6 | ENST00000253109.5 | c.1019G>A | p.Arg340His | missense_variant | 5/6 | 1 | NM_031917.3 | P1 | |
ANGPTL6 | ENST00000592641.5 | c.1019G>A | p.Arg340His | missense_variant | 5/6 | 1 | P1 | ||
ANGPTL6 | ENST00000589181.5 | c.899G>A | p.Arg300His | missense_variant | 4/5 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000640 AC: 16AN: 250124Hom.: 0 AF XY: 0.0000886 AC XY: 12AN XY: 135374
GnomAD4 exome AF: 0.0000486 AC: 71AN: 1461634Hom.: 0 Cov.: 31 AF XY: 0.0000468 AC XY: 34AN XY: 727126
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 20, 2023 | The c.1019G>A (p.R340H) alteration is located in exon 5 (coding exon 4) of the ANGPTL6 gene. This alteration results from a G to A substitution at nucleotide position 1019, causing the arginine (R) at amino acid position 340 to be replaced by a histidine (H). 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