NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 3, 2017
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:: RCV000622864.2

Allele description [Variation Report for NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)]

NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

Preferred name:

NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)

HGVS:

NC_000010.11:g.49461473G>A
NG_009442.1:g.82629C>T
NM_000124.4:c.3862C>TMANE SELECT
NM_001346440.2:c.3862C>T
NP_000115.1:p.Arg1288Ter
NP_001333369.1:p.Arg1288Ter
LRG_465t1:c.3862C>T
LRG_465:g.82629C>T
NC_000010.10:g.50669519G>A
NM_000124.2:c.3862C>T
NM_000124.3:c.3862C>T

Protein change:

R1288*; ARG1288TER

Links:

OMIM: 609413.0015; dbSNP: rs185142838

NCBI 1000 Genomes Browser:

rs185142838

Molecular consequence:

NM_000124.4:c.3862C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001346440.2:c.3862C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742719	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Jul 3, 2017)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 23311583, 19894250, 23428416, 20456449 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742719

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Jul 3, 2017)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian/Irish/English	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

A possible cranio-oro-facial phenotype in Cockayne syndrome.

Bloch-Zupan A, Rousseaux M, Laugel V, Schmittbuhl M, Mathis R, Desforges E, Koob M, Zaloszyc A, Dollfus H, Laugel V.

Orphanet J Rare Dis. 2013 Jan 14;8:9. doi: 10.1186/1750-1172-8-9.

PubMed [citation]

PMID:: 23311583
PMCID:: PMC3599377

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, et al.

Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154.

PubMed [citation]

PMID:: 19894250

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000742719.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian/Irish/English	1	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Feb 20, 2024

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