3-14145330-A-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_004628.5(XPC):c.*611T>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.173 in 697,562 control chromosomes in the GnomAD database, including 12,046 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004628.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
XPC | ENST00000285021 | c.*611T>A | 3_prime_UTR_variant | Exon 16 of 16 | 1 | NM_004628.5 | ENSP00000285021.8 | |||
ENSG00000268279 | ENST00000608606.1 | n.244A>T | non_coding_transcript_exon_variant | Exon 4 of 5 | 5 | ENSP00000476275.1 |
Frequencies
GnomAD3 genomes AF: 0.167 AC: 25257AN: 151652Hom.: 2412 Cov.: 32
GnomAD3 exomes AF: 0.151 AC: 19384AN: 128366Hom.: 1813 AF XY: 0.151 AC XY: 10587AN XY: 70000
GnomAD4 exome AF: 0.175 AC: 95373AN: 545792Hom.: 9634 Cov.: 0 AF XY: 0.173 AC XY: 50986AN XY: 295454
GnomAD4 genome AF: 0.166 AC: 25257AN: 151770Hom.: 2412 Cov.: 32 AF XY: 0.164 AC XY: 12195AN XY: 74146
ClinVar
Submissions by phenotype
Xeroderma pigmentosum Benign:1
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Arrhythmogenic right ventricular cardiomyopathy Benign:1
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not provided Benign:1
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Xeroderma pigmentosum, group C Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at