3-42941975-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001205272.2(KRBOX1):c.181C>T(p.Pro61Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000117 in 1,535,608 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001205272.2 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 |
---|---|---|---|---|---|---|---|---|
KRBOX1 | NM_001205272.2 | c.181C>T | p.Pro61Ser | missense_variant | Exon 4 of 5 | ENST00000383748.9 | NP_001192201.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KRBOX1 | ENST00000383748.9 | c.181C>T | p.Pro61Ser | missense_variant | Exon 4 of 5 | 1 | NM_001205272.2 | ENSP00000373254.5 | ||
ENSG00000290317 | ENST00000426937.5 | c.181C>T | p.Pro61Ser | missense_variant | Exon 6 of 7 | 3 | ENSP00000413859.1 | |||
ENSG00000273291 | ENST00000446977.2 | c.181C>T | p.Pro61Ser | missense_variant | Exon 4 of 5 | 4 | ENSP00000477043.1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000729 AC: 1AN: 137116Hom.: 0 AF XY: 0.0000134 AC XY: 1AN XY: 74526
GnomAD4 exome AF: 0.00000506 AC: 7AN: 1383452Hom.: 0 Cov.: 30 AF XY: 0.00000732 AC XY: 5AN XY: 682698
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.181C>T (p.P61S) alteration is located in exon 4 (coding exon 3) of the KRBOX1 gene. This alteration results from a C to T substitution at nucleotide position 181, causing the proline (P) at amino acid position 61 to be replaced by a serine (S). 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