12-95209162-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_018351.4(FGD6):c.2122C>T(p.Arg708Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000613 in 1,614,064 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018351.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FGD6 | NM_018351.4 | c.2122C>T | p.Arg708Trp | missense_variant | 2/21 | ENST00000343958.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FGD6 | ENST00000343958.9 | c.2122C>T | p.Arg708Trp | missense_variant | 2/21 | 1 | NM_018351.4 | P1 | |
FGD6 | ENST00000549499.1 | c.2122C>T | p.Arg708Trp | missense_variant | 2/16 | 1 | |||
FGD6 | ENST00000451107.3 | c.16+8063C>T | intron_variant, NMD_transcript_variant | 1 | |||||
FGD6 | ENST00000546711.5 | c.2122C>T | p.Arg708Trp | missense_variant | 2/19 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000789 AC: 12AN: 152074Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000151 AC: 38AN: 251096Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135694
GnomAD4 exome AF: 0.0000595 AC: 87AN: 1461874Hom.: 0 Cov.: 34 AF XY: 0.0000536 AC XY: 39AN XY: 727236
GnomAD4 genome ? AF: 0.0000788 AC: 12AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74408
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 13, 2021 | The c.2122C>T (p.R708W) alteration is located in exon 2 (coding exon 2) of the FGD6 gene. This alteration results from a C to T substitution at nucleotide position 2122, causing the arginine (R) at amino acid position 708 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