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NM_022836.4(DCLRE1B):c.807C>T (p.His269=) AND Fanconi anemia complementation group C

Germline classification:
Pathogenic (1 submission)
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:
RCV003221328.1

Allele description [Variation Report for NM_022836.4(DCLRE1B):c.807C>T (p.His269=)]

NM_022836.4(DCLRE1B):c.807C>T (p.His269=)

Gene:
DCLRE1B:DNA cross-link repair 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_022836.4(DCLRE1B):c.807C>T (p.His269=)
HGVS:
  • NC_000001.11:g.113911399C>T
  • NG_057565.1:g.11781C>T
  • NM_001319946.2:c.429C>T
  • NM_001319947.2:c.429C>T
  • NM_001363690.2:c.807C>T
  • NM_001363691.2:c.429C>T
  • NM_022836.4:c.807C>TMANE SELECT
  • NP_001306875.1:p.His143=
  • NP_001306876.1:p.His143=
  • NP_001350619.1:p.His269=
  • NP_001350620.1:p.His143=
  • NP_073747.1:p.His269=
  • LRG_1219t1:c.807C>T
  • LRG_1219:g.11781C>T
  • LRG_1219p1:p.His269=
  • NC_000001.10:g.114454021C>T
Molecular consequence:
  • NM_001319946.2:c.429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001319947.2:c.429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363690.2:c.807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363691.2:c.429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022836.4:c.807C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Fanconi anemia complementation group C (FANCC)
Synonyms:
FANCONI PANCYTOPENIA, TYPE 3; FACC; Fanconi anemia, group C
Identifiers:
MONDO: MONDO:0009213; MedGen: C3468041; Orphanet: 84; OMIM: 227645

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003915697Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenicgermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology, SCV003915697.1

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

Last Updated: Apr 15, 2023