NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) AND XFE progeroid syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 4, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000766208.2

Allele description [Variation Report for NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)]

NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)

Gene:

ERCC4:ERCC excision repair 4, endonuclease catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.12

Genomic location:

Preferred name:

NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)

Other names:

R788W

HGVS:

NC_000016.10:g.13947991C>T
NG_011442.1:g.32835C>T
NM_005236.3:c.2395C>TMANE SELECT
NP_005227.1:p.Arg799Trp
NP_005227.1:p.Arg799Trp
LRG_463t1:c.2395C>T
LRG_463:g.32835C>T
LRG_463p1:p.Arg799Trp
NC_000016.9:g.14041848C>T
NM_005236.2:c.2395C>T
Q92889:p.Arg799Trp
p.R799W

Protein change:

R799W; ARG788TRP

Links:

UniProtKB: Q92889#VAR_005850; OMIM: 133520.0002; OMIM: 133520.0011; dbSNP: rs121913049

NCBI 1000 Genomes Browser:

rs121913049

Molecular consequence:

NM_005236.3:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: XFE progeroid syndrome (XFEPS)
Identifiers:: MONDO: MONDO:0012590; MedGen: C1970416; OMIM: 610965

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000897688	OMIM	no assertion criteria provided	Pathogenic (Apr 4, 2019)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000897688

OMIM

no assertion criteria provided

Pathogenic
(Apr 4, 2019)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.

Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics., Niedernhofer LJ, Oshima J.

Hum Mutat. 2018 Feb;39(2):255-265. doi: 10.1002/humu.23367. Epub 2017 Nov 17.

PubMed [citation]

PMID:: 29105242
PMCID:: PMC5762268

Details of each submission

From OMIM, SCV000897688.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 35-year-old woman with XFE progeroid syndrome (XFEPS; 610965), Mori et al. (2018) identified compound heterozygosity for 2 mutations in the ERCC4 gene: a c.2395C-T transition (c.2395C-T, NM_005236.2), resulting in an arg799-to-trp (R799W) substitution, and a 5,656-bp deletion (c.388+1164_792+795del; 133520.0012), resulting in a frameshift and a premature termination codon (Gly130AspfsTer18).

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

Last Updated: Nov 3, 2024

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