NM_004628.5(XPC):c.1872+1G>C AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 21, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003314635.1

Allele description [Variation Report for NM_004628.5(XPC):c.1872+1G>C]

NM_004628.5(XPC):c.1872+1G>C

Gene:

XPC:XPC complex subunit, DNA damage recognition and repair factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_004628.5(XPC):c.1872+1G>C

HGVS:

NC_000003.12:g.14158010C>G
NG_011763.1:g.25663G>C
NM_001354726.2:c.1293+1G>C
NM_001354727.2:c.1872+1G>C
NM_001354729.2:c.1854+1G>C
NM_001354730.2:c.1626+247G>C
NM_004628.5:c.1872+1G>CMANE SELECT
LRG_472t1:c.1872+1G>C
LRG_472:g.25663G>C
NC_000003.11:g.14199510C>G
NM_004628.4:c.1872+1G>C

Links:

dbSNP: rs1559374923

NCBI 1000 Genomes Browser:

rs1559374923

Molecular consequence:

NM_001354730.2:c.1626+247G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001354726.2:c.1293+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354727.2:c.1872+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354729.2:c.1854+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_004628.5:c.1872+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004014153	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jun 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004014153

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jun 21, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV004014153.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25326635, 32359129, 27535533)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

ClinVar

Relating variation to medicine