7-56061802-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001762.4(CCT6A):āc.1403C>Gā(p.Ala468Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000903 in 1,595,264 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001762.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCT6A | NM_001762.4 | c.1403C>G | p.Ala468Gly | missense_variant | 12/14 | ENST00000275603.9 | |
CCT6A | NM_001009186.2 | c.1268C>G | p.Ala423Gly | missense_variant | 11/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCT6A | ENST00000275603.9 | c.1403C>G | p.Ala468Gly | missense_variant | 12/14 | 1 | NM_001762.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000406 AC: 6AN: 147690Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000203 AC: 5AN: 246460Hom.: 0 AF XY: 0.0000225 AC XY: 3AN XY: 133496
GnomAD4 exome AF: 0.0000953 AC: 138AN: 1447574Hom.: 0 Cov.: 29 AF XY: 0.000101 AC XY: 73AN XY: 720086
GnomAD4 genome AF: 0.0000406 AC: 6AN: 147690Hom.: 0 Cov.: 31 AF XY: 0.0000419 AC XY: 3AN XY: 71664
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2021 | The c.1403C>G (p.A468G) alteration is located in exon 12 (coding exon 12) of the CCT6A gene. This alteration results from a C to G substitution at nucleotide position 1403, causing the alanine (A) at amino acid position 468 to be replaced by a glycine (G). 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