11-106053613-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_198439.3(KBTBD3):c.1076G>A(p.Arg359Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000508 in 1,613,670 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198439.3 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 |
---|---|---|---|---|---|---|---|---|
KBTBD3 | NM_198439.3 | c.1076G>A | p.Arg359Gln | missense_variant | Exon 4 of 4 | ENST00000531837.2 | NP_940841.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KBTBD3 | ENST00000531837.2 | c.1076G>A | p.Arg359Gln | missense_variant | Exon 4 of 4 | 1 | NM_198439.3 | ENSP00000432163.1 | ||
KBTBD3 | ENST00000526793.5 | c.1076G>A | p.Arg359Gln | missense_variant | Exon 3 of 3 | 1 | ENSP00000436262.1 | |||
KBTBD3 | ENST00000534815.1 | c.839G>A | p.Arg280Gln | missense_variant | Exon 2 of 2 | 5 | ENSP00000431910.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151986Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250602Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135458
GnomAD4 exome AF: 0.0000540 AC: 79AN: 1461684Hom.: 0 Cov.: 33 AF XY: 0.0000481 AC XY: 35AN XY: 727148
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151986Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74242
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1076G>A (p.R359Q) alteration is located in exon 4 (coding exon 2) of the KBTBD3 gene. This alteration results from a G to A substitution at nucleotide position 1076, causing the arginine (R) at amino acid position 359 to be replaced by a glutamine (Q). 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