NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 30, 2024
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:: RCV005049453.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)]

NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)

Gene:

ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q11.23

Genomic location:

Preferred name:

NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)

HGVS:

NC_000010.11:g.49461382_49461383del
NG_009442.1:g.82719_82720del
NM_000124.4:c.3952_3953delMANE SELECT
NM_001346440.2:c.3952_3953del
NP_000115.1:p.Arg1318fs
NP_001333369.1:p.Arg1318fs
LRG_465t1:c.3952_3953del
LRG_465:g.82719_82720del
NC_000010.10:g.50669428_50669429del
NM_000124.2:c.3952_3953del
NM_000124.2:c.3952_3953delAG
NM_000124.3:c.3952_3953del
NM_000124.3:c.3952_3953delAG
NM_000124.4:c.3952_3953delAGMANE SELECT

Protein change:

R1318fs

Links:

dbSNP: rs765825423

Molecular consequence:

NM_000124.4:c.3952_3953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001346440.2:c.3952_3953del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: DE SANCTIS-CACCHIONE SYNDROME
Identifiers:: MONDO: MONDO:0010217; MedGen: C0265201; OMIM: 278800

Name:: Cerebrooculofacioskeletal syndrome 1 (COFS1)
Synonyms:: Cerebro-oculo-facio-skeletal syndrome 1
Identifiers:: MONDO: MONDO:0008955; MedGen: C0220722; OMIM: 214150

Name:: Cockayne syndrome type 2 (CSB)
Synonyms:: COCKAYNE SYNDROME B; Cockayne Syndrome, Type II
Identifiers:: MONDO: MONDO:0019570; MedGen: C0751038; Orphanet: 191; OMIM: 133540

Name:: UV-sensitive syndrome 1 (UVSS1)
Identifiers:: MONDO: MONDO:0010909; MedGen: C3551173; Orphanet: 178338; OMIM: 600630

Name:: Age related macular degeneration 5
Identifiers:: MONDO: MONDO:0013409; MedGen: C3151063; OMIM: 613761

Name:: Premature ovarian failure 11 (POF11)
Identifiers:: MONDO: MONDO:0014843; MedGen: C4310783; OMIM: 616946

Name:: Lung cancer
Synonyms:: Lung cancer, somatic; Malignant tumor of lung
Identifiers:: MONDO: MONDO:0008903; MedGen: C0242379; OMIM: 211980

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005680089	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 30, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005680089

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 30, 2024)

germline

clinical testing

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV005680089.1

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

#	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: Apr 12, 2026

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