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NM_000136.3(FANCC):c.345+1del AND Fanconi anemia complementation group C

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jan 31, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000412431.3

Allele description [Variation Report for NM_000136.3(FANCC):c.345+1del]

NM_000136.3(FANCC):c.345+1del

Gene:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.345+1del
HGVS:
  • NC_000009.12:g.95240649del
  • NG_011707.1:g.82062del
  • NM_000136.3:c.345+1delMANE SELECT
  • NM_001243743.2:c.345+1del
  • NM_001243744.2:c.345+1del
  • LRG_497:g.82062del
  • NC_000009.11:g.98002931del
  • NM_000136.2:c.345+1delG
Links:
dbSNP: rs1057516247
NCBI 1000 Genomes Browser:
rs1057516247
Molecular consequence:
  • NM_000136.3:c.345+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243743.2:c.345+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243744.2:c.345+1del - splice donor variant - [Sequence Ontology: SO:0001575]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000485353Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Nov 24, 2015) 		unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf,

Citation Link,

SCV004196688Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 31, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Counsyl, SCV000485353.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV004196688.1

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

Last Updated: Dec 30, 2023