NM_000400.4(ERCC2):c.851del (p.Glu284fs) AND Xeroderma pigmentosum, group D

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002249940.1

Allele description [Variation Report for NM_000400.4(ERCC2):c.851del (p.Glu284fs)]

NM_000400.4(ERCC2):c.851del (p.Glu284fs)

Gene:

ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_000400.4(ERCC2):c.851del (p.Glu284fs)

HGVS:

NC_000019.10:g.45364084del
NG_007067.2:g.11504del
NM_000400.4:c.851delMANE SELECT
NM_001130867.2:c.779del
NP_000391.1:p.Glu284fs
NP_001124339.1:p.Glu260fs
LRG_461:g.11504del
NC_000019.10:g.45364084_45364084delT
NC_000019.9:g.45867342del

Protein change:

E260fs

Links:

dbSNP: rs2123288444

NCBI 1000 Genomes Browser:

rs2123288444

Molecular consequence:

NM_000400.4:c.851del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130867.2:c.779del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Xeroderma pigmentosum, group D (XPD)
Synonyms:: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XERODERMA PIGMENTOSUM IV; XP, GROUP D; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010212; MedGen: C0268138; OMIM: 278730

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
SCV002519615	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002519615

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV002519615.1

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

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

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine