1-26950095-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_152365.3(KDF1):c.1171G>T(p.Ala391Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,613,564 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_152365.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KDF1 | NM_152365.3 | c.1171G>T | p.Ala391Ser | missense_variant | Exon 4 of 4 | ENST00000320567.6 | NP_689578.2 | |
KDF1 | XM_005245735.3 | c.1171G>T | p.Ala391Ser | missense_variant | Exon 4 of 4 | XP_005245792.1 | ||
KDF1 | XM_011540622.3 | c.1171G>T | p.Ala391Ser | missense_variant | Exon 4 of 4 | XP_011538924.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251034Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135740
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461476Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727036
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74294
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1171G>T (p.A391S) alteration is located in exon 4 (coding exon 3) of the KDF1 gene. This alteration results from a G to T substitution at nucleotide position 1171, causing the alanine (A) at amino acid position 391 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