16-77725459-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001105663.3(NUDT7):c.64C>T(p.Arg22Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,612,768 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001105663.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NUDT7 | NM_001105663.3 | c.64C>T | p.Arg22Cys | missense_variant | 2/4 | ENST00000268533.9 | |
NUDT7 | NM_001243660.2 | c.64C>T | p.Arg22Cys | missense_variant | 2/4 | ||
NUDT7 | NM_001243661.2 | c.64C>T | p.Arg22Cys | missense_variant | 2/3 | ||
NUDT7 | NM_001243657.2 | c.64C>T | p.Arg22Cys | missense_variant | 2/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NUDT7 | ENST00000268533.9 | c.64C>T | p.Arg22Cys | missense_variant | 2/4 | 1 | NM_001105663.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152100Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248542Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134828
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1460668Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 726526
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152100Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74296
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 17, 2023 | The c.64C>T (p.R22C) alteration is located in exon 2 (coding exon 2) of the NUDT7 gene. This alteration results from a C to T substitution at nucleotide position 64, causing the arginine (R) at amino acid position 22 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