NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 12, 2021
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:: RCV002487335.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu)]

NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu)

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.2989A>G (p.Lys997Glu)

HGVS:

NC_000010.11:g.49471056T>C
NG_009442.1:g.73046A>G
NM_000124.4:c.2989A>GMANE SELECT
NM_001346440.2:c.2989A>G
NP_000115.1:p.Lys997Glu
NP_001333369.1:p.Lys997Glu
LRG_465:g.73046A>G
NC_000010.10:g.50679102T>C
NM_000124.3:c.2989A>G

Protein change:

K997E

Links:

dbSNP: rs375181157

NCBI 1000 Genomes Browser:

rs375181157

Molecular consequence:

NM_000124.4:c.2989A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346440.2:c.2989A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: DE SANCTIS-CACCHIONE SYNDROME (ERCC6)
Synonyms:: Xerodermic idiocy
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 2; 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

Recent activity

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acetyl-CoA carboxylase 2 isoform X1 [Homo sapiens]
acetyl-CoA carboxylase 2 isoform X1 [Homo sapiens]
gi|2462531657|ref|XP_054227889.1|

Protein
RecName: Full=Chromodomain-helicase-DNA-binding protein 6; Short=CHD-6; AltName:...
RecName: Full=Chromodomain-helicase-DNA-binding protein 6; Short=CHD-6; AltName: Full=ATP-dependent helicase CHD6
gi|657341805|sp|D3ZA12.2|CHD6_RAT

Protein
protein Wnt-8b precursor [Homo sapiens]
protein Wnt-8b precursor [Homo sapiens]
gi|110735437|ref|NP_003384.2|

Protein
Deoxyribonucleotides
Deoxyribonucleotides
A purine or pyrimidine base bonded to a DEOXYRIBOSE containing a bond to a phosphate group.<br/>Year introduced: 1973

MeSH
Therapeutic Community
Therapeutic Community
Psychotherapeutic technique which emphasizes socioenvironmental and interpersonal influences in the resocialization and rehabilitation of the patient. The setting is usually a...<br/>Year introduced: 1969(1967)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002793508	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 12, 2021)	unknown	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

SCV002793508

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 12, 2021)

unknown

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	unknown	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, SCV002793508.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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Relating variation to medicine