12-88505215-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000899.5(KITLG):c.803G>C(p.Arg268Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,458,884 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000899.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KITLG | NM_000899.5 | c.803G>C | p.Arg268Thr | missense_variant | Exon 9 of 10 | ENST00000644744.1 | NP_000890.1 | |
KITLG | NM_003994.6 | c.719G>C | p.Arg240Thr | missense_variant | Exon 8 of 9 | NP_003985.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1458884Hom.: 0 Cov.: 28 AF XY: 0.00000138 AC XY: 1AN XY: 725976
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.803G>C (p.R268T) alteration is located in exon 9 (coding exon 9) of the KITLG gene. This alteration results from a G to C substitution at nucleotide position 803, causing the arginine (R) at amino acid position 268 to be replaced by a threonine (T). 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
Publications
No publications associated with this variant yet.