19-532062-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004359.2(CDC34):c.131C>T(p.Ala44Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000219 in 1,369,654 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004359.2 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 |
---|---|---|---|---|---|---|---|---|
CDC34 | NM_004359.2 | c.131C>T | p.Ala44Val | missense_variant | Exon 1 of 5 | ENST00000215574.9 | NP_004350.1 | |
CDC34 | XM_005259690.4 | c.131C>T | p.Ala44Val | missense_variant | Exon 1 of 5 | XP_005259747.1 | ||
CDC34 | XM_006722952.3 | c.131C>T | p.Ala44Val | missense_variant | Exon 1 of 5 | XP_006723015.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CDC34 | ENST00000215574.9 | c.131C>T | p.Ala44Val | missense_variant | Exon 1 of 5 | 1 | NM_004359.2 | ENSP00000215574.2 | ||
CDC34 | ENST00000586283.6 | c.29C>T | p.Ala10Val | missense_variant | Exon 1 of 5 | 3 | ENSP00000475282.3 | |||
CDC34 | ENST00000586788.1 | n.294C>T | non_coding_transcript_exon_variant | Exon 1 of 3 | 2 | |||||
CDC34 | ENST00000607527.5 | c.-38C>T | upstream_gene_variant | 5 | ENSP00000476107.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000219 AC: 3AN: 1369654Hom.: 0 Cov.: 30 AF XY: 0.00000294 AC XY: 2AN XY: 679628
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.131C>T (p.A44V) alteration is located in exon 1 (coding exon 1) of the CDC34 gene. This alteration results from a C to T substitution at nucleotide position 131, causing the alanine (A) at amino acid position 44 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