10-100746268-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000278.5(PAX2):c.8T>A(p.Met3Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000278.5 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 Cov.: 33
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Renal coloboma syndrome;C4014925:Focal segmental glomerulosclerosis 7 Uncertain:1
ClinVar contains an entry for this variant (Variation ID: 1379778). This variant has not been reported in the literature in individuals affected with PAX2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine with lysine at codon 3 of the PAX2 protein (p.Met3Lys). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and lysine. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.