5-7866871-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024091.4(FASTKD3):c.1213C>T(p.Pro405Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000589 in 1,613,948 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 (★).
Frequency
Consequence
NM_024091.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152168Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251130Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135764
GnomAD4 exome AF: 0.0000629 AC: 92AN: 1461780Hom.: 0 Cov.: 68 AF XY: 0.0000578 AC XY: 42AN XY: 727176
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152168Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1213C>T (p.P405S) alteration is located in exon 2 (coding exon 1) of the FASTKD3 gene. This alteration results from a C to T substitution at nucleotide position 1213, causing the proline (P) at amino acid position 405 to be replaced by a serine (S). 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