5-7867065-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024091.4(FASTKD3):c.1019C>T(p.Ala340Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000372 in 1,613,932 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 152076Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251414Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135882
GnomAD4 exome AF: 0.0000369 AC: 54AN: 1461856Hom.: 0 Cov.: 68 AF XY: 0.0000371 AC XY: 27AN XY: 727224
GnomAD4 genome AF: 0.0000395 AC: 6AN: 152076Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74284
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1019C>T (p.A340V) 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 1019, causing the alanine (A) at amino acid position 340 to be replaced by a valine (V). 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