2-73243080-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_006429.4(CCT7):c.344G>T(p.Gly115Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000159 in 1,613,892 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 Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G115R) has been classified as Uncertain significance.
Frequency
Consequence
NM_006429.4 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 |
---|---|---|---|---|---|---|---|
CCT7 | NM_006429.4 | c.344G>T | p.Gly115Val | missense_variant | 4/12 | ENST00000258091.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCT7 | ENST00000258091.10 | c.344G>T | p.Gly115Val | missense_variant | 4/12 | 1 | NM_006429.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000723 AC: 11AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000843 AC: 21AN: 249258Hom.: 0 AF XY: 0.0000740 AC XY: 10AN XY: 135218
GnomAD4 exome AF: 0.000168 AC: 246AN: 1461708Hom.: 0 Cov.: 31 AF XY: 0.000144 AC XY: 105AN XY: 727134
GnomAD4 genome ? AF: 0.0000723 AC: 11AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 09, 2024 | The c.344G>T (p.G115V) alteration is located in exon 4 (coding exon 4) of the CCT7 gene. This alteration results from a G to T substitution at nucleotide position 344, causing the glycine (G) at amino acid position 115 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