NM_004628.5:c.*611T>C
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1_SupportingBS2
The NM_004628.5(XPC):c.*611T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00244 in 697,694 control chromosomes in the GnomAD database, including 28 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_004628.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
XPC | ENST00000285021 | c.*611T>C | 3_prime_UTR_variant | Exon 16 of 16 | 1 | NM_004628.5 | ENSP00000285021.8 | |||
ENSG00000268279 | ENST00000608606.1 | n.244A>G | non_coding_transcript_exon_variant | Exon 4 of 5 | 5 | ENSP00000476275.1 |
Frequencies
GnomAD3 genomes AF: 0.00723 AC: 1097AN: 151678Hom.: 21 Cov.: 32
GnomAD3 exomes AF: 0.00175 AC: 224AN: 128366Hom.: 2 AF XY: 0.00136 AC XY: 95AN XY: 70000
GnomAD4 exome AF: 0.00110 AC: 600AN: 545898Hom.: 7 Cov.: 0 AF XY: 0.000819 AC XY: 242AN XY: 295520
GnomAD4 genome AF: 0.00726 AC: 1102AN: 151796Hom.: 21 Cov.: 32 AF XY: 0.00700 AC XY: 519AN XY: 74160
ClinVar
Submissions by phenotype
Xeroderma pigmentosum, group C Uncertain:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. -
not provided Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at