5-7866828-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024091.4(FASTKD3):āc.1256A>Gā(p.Asn419Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000254 in 1,614,014 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 AF: 0.0000394 AC: 6AN: 152214Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251230Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135804
GnomAD4 exome AF: 0.0000239 AC: 35AN: 1461800Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727188
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152214Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1256A>G (p.N419S) alteration is located in exon 2 (coding exon 1) of the FASTKD3 gene. This alteration results from a A to G substitution at nucleotide position 1256, causing the asparagine (N) at amino acid position 419 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