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NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) AND Cerebrooculofacioskeletal syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 5, 2018
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:
RCV000662069.4

Allele description [Variation Report for NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)]

NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)

Gene:
ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)
HGVS:
  • NC_000019.10:g.45352761C>G
  • NG_007067.2:g.22827G>C
  • NM_000400.4:c.1887G>CMANE SELECT
  • NP_000391.1:p.Gln629His
  • NP_000391.1:p.Gln629His
  • LRG_461t1:c.1887G>C
  • LRG_461:g.22827G>C
  • LRG_461p1:p.Gln629His
  • NC_000019.9:g.45856019C>G
  • NM_000400.3:c.1887G>C
Protein change:
Q629H
Links:
dbSNP: rs200665173
NCBI 1000 Genomes Browser:
rs200665173
Molecular consequence:
  • NM_000400.4:c.1887G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000784405Genomic Research Center, Shahid Beheshti University of Medical Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 5, 2018) 		inheritedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedno1not providednot providednot providednot providedclinical 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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000784405.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritednonot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024