5-7866676-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024091.4(FASTKD3):āc.1408T>Cā(p.Phe470Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000761 in 1,444,728 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_024091.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000252 AC: 6AN: 238172Hom.: 0 AF XY: 0.0000234 AC XY: 3AN XY: 128426
GnomAD4 exome AF: 0.00000761 AC: 11AN: 1444728Hom.: 0 Cov.: 30 AF XY: 0.00000697 AC XY: 5AN XY: 717058
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1408T>C (p.F470L) alteration is located in exon 2 (coding exon 1) of the FASTKD3 gene. This alteration results from a T to C substitution at nucleotide position 1408, causing the phenylalanine (F) at amino acid position 470 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