3-14923067-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_152536.4(FGD5):c.3829C>T(p.Arg1277Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,613,724 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_152536.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FGD5 | NM_152536.4 | c.3829C>T | p.Arg1277Trp | missense_variant | Exon 16 of 20 | ENST00000285046.10 | NP_689749.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152080Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 249124Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135146
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461644Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727118
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152080Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74282
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3829C>T (p.R1277W) alteration is located in exon 16 (coding exon 16) of the FGD5 gene. This alteration results from a C to T substitution at nucleotide position 3829, causing the arginine (R) at amino acid position 1277 to be replaced by a tryptophan (W). 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