5-180565901-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001370472.1(CNOT6):c.641C>T(p.Ala214Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000753 in 1,461,562 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 (★).
Frequency
Consequence
NM_001370472.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNOT6 | NM_001370472.1 | c.641C>T | p.Ala214Val | missense_variant | Exon 7 of 12 | ENST00000261951.9 | NP_001357401.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CNOT6 | ENST00000261951.9 | c.641C>T | p.Ala214Val | missense_variant | Exon 7 of 12 | 5 | NM_001370472.1 | ENSP00000261951.4 | ||
CNOT6 | ENST00000393356.7 | c.641C>T | p.Ala214Val | missense_variant | Exon 9 of 14 | 1 | ENSP00000377024.1 | |||
CNOT6 | ENST00000618123.4 | c.641C>T | p.Ala214Val | missense_variant | Exon 8 of 13 | 1 | ENSP00000481893.1 | |||
CNOT6 | ENST00000504343.1 | c.353C>T | p.Ala118Val | missense_variant | Exon 4 of 6 | 3 | ENSP00000422087.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251278Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135798
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461562Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727076
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.641C>T (p.A214V) alteration is located in exon 7 (coding exon 6) of the CNOT6 gene. This alteration results from a C to T substitution at nucleotide position 641, causing the alanine (A) at amino acid position 214 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