12-124326221-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_006312.6(NCOR2):c.7333C>T(p.Arg2445Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000117 in 1,539,382 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R2445H) has been classified as Uncertain significance.
Frequency
Consequence
NM_006312.6 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 |
---|---|---|---|---|---|---|---|
NCOR2 | NM_006312.6 | c.7333C>T | p.Arg2445Cys | missense_variant | 48/49 | ENST00000405201.6 | |
NCOR2 | NM_001206654.2 | c.7303C>T | p.Arg2435Cys | missense_variant | 47/48 | ||
NCOR2 | NM_001077261.4 | c.7165C>T | p.Arg2389Cys | missense_variant | 47/48 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NCOR2 | ENST00000405201.6 | c.7333C>T | p.Arg2445Cys | missense_variant | 48/49 | 1 | NM_006312.6 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152234Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000101 AC: 14AN: 1387028Hom.: 0 Cov.: 31 AF XY: 0.0000117 AC XY: 8AN XY: 684786
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152354Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 28, 2024 | The c.7333C>T (p.R2445C) alteration is located in exon 48 (coding exon 46) of the NCOR2 gene. This alteration results from a C to T substitution at nucleotide position 7333, causing the arginine (R) at amino acid position 2445 to be replaced by a cysteine (C). 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