3-14924095-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_152536.4(FGD5):c.4025C>T(p.Ser1342Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000173 in 1,613,874 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S1342W) has been classified as Uncertain significance.
Frequency
Consequence
NM_152536.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FGD5 | NM_152536.4 | c.4025C>T | p.Ser1342Leu | missense_variant | Exon 17 of 20 | ENST00000285046.10 | NP_689749.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249214Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135196
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461700Hom.: 0 Cov.: 34 AF XY: 0.0000151 AC XY: 11AN XY: 727132
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4025C>T (p.S1342L) alteration is located in exon 17 (coding exon 17) of the FGD5 gene. This alteration results from a C to T substitution at nucleotide position 4025, causing the serine (S) at amino acid position 1342 to be replaced by a leucine (L). 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