6-96976065-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_052904.4(KLHL32):c.92C>T(p.Ala31Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000218 in 1,608,548 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_052904.4 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: 0.0000460 AC: 7AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248732Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134426
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1456240Hom.: 0 Cov.: 31 AF XY: 0.0000152 AC XY: 11AN XY: 723586
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152308Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.92C>T (p.A31V) alteration is located in exon 3 (coding exon 2) of the KLHL32 gene. This alteration results from a C to T substitution at nucleotide position 92, causing the alanine (A) at amino acid position 31 to be replaced by a valine (V). 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