chr7-56060353-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.1150C>Gā(p.Leu384Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000188 in 1,613,856 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 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.1150C>G | p.Leu384Val | missense_variant | 10/14 | ENST00000275603.9 | |
CCT6A | NM_001009186.2 | c.1015C>G | p.Leu339Val | missense_variant | 9/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCT6A | ENST00000275603.9 | c.1150C>G | p.Leu384Val | missense_variant | 10/14 | 1 | NM_001762.4 | P1 | |
CCT6A | ENST00000335503.3 | c.1015C>G | p.Leu339Val | missense_variant | 9/13 | 5 | |||
CCT6A | ENST00000466572.5 | n.489C>G | non_coding_transcript_exon_variant | 1/2 | 2 | ||||
CCT6A | ENST00000492618.5 | n.182C>G | non_coding_transcript_exon_variant | 2/4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000139 AC: 35AN: 251462Hom.: 0 AF XY: 0.000184 AC XY: 25AN XY: 135908
GnomAD4 exome AF: 0.000198 AC: 289AN: 1461658Hom.: 0 Cov.: 31 AF XY: 0.000198 AC XY: 144AN XY: 727150
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 08, 2023 | The c.1150C>G (p.L384V) alteration is located in exon 10 (coding exon 10) of the CCT6A gene. This alteration results from a C to G substitution at nucleotide position 1150, causing the leucine (L) at amino acid position 384 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