3-12807448-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001162499.2(CAND2):c.355C>T(p.Pro119Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000715 in 1,399,238 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P119A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001162499.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAND2 | NM_001162499.2 | c.355C>T | p.Pro119Ser | missense_variant | Exon 3 of 15 | ENST00000456430.6 | NP_001155971.1 | |
CAND2 | XM_011533504.3 | c.283C>T | p.Pro95Ser | missense_variant | Exon 3 of 15 | XP_011531806.1 | ||
CAND2 | XM_011533503.3 | c.355C>T | p.Pro119Ser | missense_variant | Exon 3 of 14 | XP_011531805.1 | ||
CAND2 | NM_012298.3 | c.213-2611C>T | intron_variant | Intron 2 of 12 | NP_036430.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1399238Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 690120
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.