rs863225179
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP3PP5_Moderate
The NM_001378615.1(CC2D2A):āc.4491A>Cā(p.Gln1497His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,400,826 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (ā ). Synonymous variant affecting the same amino acid position (i.e. Q1497Q) has been classified as Likely benign.
Frequency
Consequence
NM_001378615.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CC2D2A | NM_001378615.1 | c.4491A>C | p.Gln1497His | missense_variant | 35/37 | ENST00000424120.6 | |
CC2D2A | NM_001080522.2 | c.4491A>C | p.Gln1497His | missense_variant | 36/38 | ||
CC2D2A | NM_001378617.1 | c.4344A>C | p.Gln1448His | missense_variant | 33/35 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CC2D2A | ENST00000424120.6 | c.4491A>C | p.Gln1497His | missense_variant | 35/37 | 5 | NM_001378615.1 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1400826Hom.: 0 Cov.: 29 AF XY: 0.00000289 AC XY: 2AN XY: 691158
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Joubert syndrome 9 Pathogenic:1
Pathogenic, criteria provided, single submitter | research | UW Hindbrain Malformation Research Program, University of Washington | Feb 23, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at