12-32502151-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_139241.3(FGD4):c.-433C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0708 in 985,422 control chromosomes in the GnomAD database, including 2,665 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_139241.3 5_prime_UTR_premature_start_codon_gain
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FGD4 | NM_001370298.3 | c.167-61986C>T | intron_variant | Intron 1 of 16 | ENST00000534526.7 | NP_001357227.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0508 AC: 7729AN: 152132Hom.: 273 Cov.: 33
GnomAD4 exome AF: 0.0744 AC: 62017AN: 833172Hom.: 2392 Cov.: 30 AF XY: 0.0751 AC XY: 28896AN XY: 384764
GnomAD4 genome AF: 0.0507 AC: 7726AN: 152250Hom.: 273 Cov.: 33 AF XY: 0.0490 AC XY: 3649AN XY: 74444
ClinVar
Submissions by phenotype
not provided Benign:2
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Charcot-Marie-Tooth disease type 4H Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at