chr5-7862966-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_024091.4(FASTKD3):āc.1556A>Cā(p.Lys519Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000118 in 1,613,796 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152178Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251122Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135720
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461618Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727094
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152178Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1556A>C (p.K519T) alteration is located in exon 4 (coding exon 3) of the FASTKD3 gene. This alteration results from a A to C substitution at nucleotide position 1556, causing the lysine (K) at amino acid position 519 to be replaced by a threonine (T). 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