chr1-961369-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_198317.3(KLHL17):c.184C>T(p.Arg62Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000125 in 1,595,976 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198317.3 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: 0.00000658 AC: 1AN: 151956Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000954 AC: 2AN: 209554Hom.: 0 AF XY: 0.00000858 AC XY: 1AN XY: 116530
GnomAD4 exome AF: 6.93e-7 AC: 1AN: 1444020Hom.: 0 Cov.: 30 AF XY: 0.00000139 AC XY: 1AN XY: 717386
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151956Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74222
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.184C>T (p.R62C) alteration is located in exon 2 (coding exon 2) of the KLHL17 gene. This alteration results from a C to T substitution at nucleotide position 184, causing the arginine (R) at amino acid position 62 to be replaced by a cysteine (C). 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