8-55102927-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_052898.2(XKR4):c.439C>A(p.Leu147Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000378 in 1,611,750 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_052898.2 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: 0.0000460 AC: 7AN: 152222Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000203 AC: 5AN: 246436Hom.: 0 AF XY: 0.0000223 AC XY: 3AN XY: 134264
GnomAD4 exome AF: 0.0000370 AC: 54AN: 1459410Hom.: 0 Cov.: 31 AF XY: 0.0000386 AC XY: 28AN XY: 726160
GnomAD4 genome AF: 0.0000459 AC: 7AN: 152340Hom.: 0 Cov.: 31 AF XY: 0.0000671 AC XY: 5AN XY: 74488
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.439C>A (p.L147I) alteration is located in exon 1 (coding exon 1) of the XKR4 gene. This alteration results from a C to A substitution at nucleotide position 439, causing the leucine (L) at amino acid position 147 to be replaced by an isoleucine (I). 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