chr19-8364522-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_139314.3(ANGPTL4):c.201C>G(p.Ser67Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000351 in 1,566,318 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_139314.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANGPTL4 | NM_139314.3 | c.201C>G | p.Ser67Arg | missense_variant | 1/7 | ENST00000301455.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANGPTL4 | ENST00000301455.7 | c.201C>G | p.Ser67Arg | missense_variant | 1/7 | 1 | NM_139314.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000282 AC: 43AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000842 AC: 138AN: 163990Hom.: 0 AF XY: 0.00111 AC XY: 99AN XY: 89538
GnomAD4 exome AF: 0.000359 AC: 508AN: 1413982Hom.: 6 Cov.: 32 AF XY: 0.000514 AC XY: 359AN XY: 699090
GnomAD4 genome ? AF: 0.000276 AC: 42AN: 152336Hom.: 0 Cov.: 32 AF XY: 0.000456 AC XY: 34AN XY: 74494
ClinVar
Submissions by phenotype
ANGPTL4-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jul 01, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at