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NM_000124.4(ERCC6):c.2599-26A>G AND multiple conditions

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Dec 7, 2023
Review status:
no classifications from unflagged records
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:
RCV000666576.2

Allele description [Variation Report for NM_000124.4(ERCC6):c.2599-26A>G]

NM_000124.4(ERCC6):c.2599-26A>G

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.2599-26A>G
HGVS:
  • NC_000010.11:g.49473613T>C
  • NG_009442.1:g.70489A>G
  • NM_000124.4:c.2599-26A>GMANE SELECT
  • NM_001346440.2:c.2599-26A>G
  • LRG_465t1:c.2599-26A>G
  • LRG_465:g.70489A>G
  • NC_000010.10:g.50681659T>C
  • NM_000124.2:c.2599-26A>G
  • NM_000124.3:c.2599-26A>G
Links:
dbSNP: rs4253196
NCBI 1000 Genomes Browser:
rs4253196
Molecular consequence:
  • NM_000124.4:c.2599-26A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001346440.2:c.2599-26A>G - intron variant - [Sequence Ontology: SO:0001627]

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
Synonyms:
Cockayne syndrome B; Cockayne syndrome type 2; Cockayne Syndrome, Type II
Identifiers:
MONDO: MONDO:0019570; MedGen: C0751038; Orphanet: 191; OMIM: 133540

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Assertion and evidence details

No clinical assertions found. See "Flagged submissions" below.

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Calmels N, Greff G, Obringer C, Kempf N, Gasnier C, Tarabeux J, Miguet M, Baujat G, Bessis D, Bretones P, Cavau A, Digeon B, Doco-Fenzy M, Doray B, Feillet F, Gardeazabal J, Gener B, Julia S, Llano-Rivas I, Mazur A, Michot C, Renaldo-Robin F, et al.

Orphanet J Rare Dis. 2016 Mar 22;11:26. doi: 10.1186/s13023-016-0408-0.

PubMed [citation]
PMID:
27004399
PMCID:
PMC4804614

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

Details of each submission

From Counsyl, SCV000790886.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000790886Counsyl
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Apr 14, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Last Updated: Mar 10, 2024