chr4-125451587-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001291303.3(FAT4):c.10577G>A(p.Gly3526Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.279 in 1,613,874 control chromosomes in the GnomAD database, including 65,712 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. G3526G) has been classified as Likely benign.
Frequency
Consequence
NM_001291303.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAT4 | NM_001291303.3 | c.10577G>A | p.Gly3526Asp | missense_variant | 10/18 | ENST00000394329.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAT4 | ENST00000394329.9 | c.10577G>A | p.Gly3526Asp | missense_variant | 10/18 | 5 | NM_001291303.3 | P1 | |
FAT4 | ENST00000335110.5 | c.5465G>A | p.Gly1822Asp | missense_variant | 9/15 | 1 | |||
FAT4 | ENST00000674496.2 | c.5348G>A | p.Gly1783Asp | missense_variant | 9/17 |
Frequencies
GnomAD3 genomes AF: 0.224 AC: 34068AN: 151900Hom.: 4637 Cov.: 32
GnomAD3 exomes AF: 0.272 AC: 68286AN: 251236Hom.: 9963 AF XY: 0.277 AC XY: 37584AN XY: 135794
GnomAD4 exome AF: 0.285 AC: 416655AN: 1461854Hom.: 61066 Cov.: 81 AF XY: 0.286 AC XY: 207893AN XY: 727230
GnomAD4 genome AF: 0.224 AC: 34099AN: 152020Hom.: 4646 Cov.: 32 AF XY: 0.223 AC XY: 16603AN XY: 74296
ClinVar
Submissions by phenotype
not specified Benign:5
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 27, 2016 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
Benign, no assertion criteria provided | clinical testing | Clinical Genetics, Academic Medical Center | - | - - |
Benign, criteria provided, single submitter | clinical testing | Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan | Jan 24, 2024 | This variant is classified as Benign based on local population frequency. This variant was detected in 46% of patients studied by a panel of primary immunodeficiencies. Number of patients: 44. Only high quality variants are reported. - |
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 29, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 27% of total chromosomes in ExAC - |
Benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Van Maldergem syndrome 2 Benign:2
Benign, criteria provided, single submitter | clinical testing | Mendelics | May 28, 2019 | - - |
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Aug 10, 2021 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Hennekam lymphangiectasia-lymphedema syndrome 2 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Aug 10, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at