chr2-73250420-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_006429.4(CCT7):āc.1185C>Gā(p.Ile395Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000616 in 1,461,774 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 (ā ).
Frequency
Consequence
NM_006429.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCT7 | NM_006429.4 | c.1185C>G | p.Ile395Met | missense_variant | 10/12 | ENST00000258091.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCT7 | ENST00000258091.10 | c.1185C>G | p.Ile395Met | missense_variant | 10/12 | 1 | NM_006429.4 | P1 | |
CCT7 | ENST00000539919.5 | c.1053C>G | p.Ile351Met | missense_variant | 11/13 | 2 | |||
CCT7 | ENST00000540468.5 | c.924C>G | p.Ile308Met | missense_variant | 8/10 | 2 | |||
CCT7 | ENST00000398422.2 | c.573C>G | p.Ile191Met | missense_variant | 5/7 | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461774Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727190
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Nov 01, 2023 | CCT7: PM2, PP3 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.