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NM_000136.3(FANCC):c.117del (p.Gln40fs) AND Fanconi anemia complementation group C

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Dec 1, 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:
RCV000408990.3

Allele description [Variation Report for NM_000136.3(FANCC):c.117del (p.Gln40fs)]

NM_000136.3(FANCC):c.117del (p.Gln40fs)

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.117del (p.Gln40fs)
HGVS:
  • NC_000009.12:g.95249175del
  • NG_011707.1:g.73535del
  • NM_000136.3:c.117delMANE SELECT
  • NM_001243743.2:c.117del
  • NM_001243744.2:c.117del
  • NP_000127.2:p.Gln40fs
  • NP_001230672.1:p.Gln40fs
  • NP_001230673.1:p.Gln40fs
  • LRG_497t1:c.117del
  • LRG_497:g.73535del
  • NC_000009.11:g.98011457del
  • NM_000136.2:c.117delT
Protein change:
Q40fs
Links:
dbSNP: rs1057517147
NCBI 1000 Genomes Browser:
rs1057517147
Molecular consequence:
  • NM_000136.3:c.117del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243743.2:c.117del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243744.2:c.117del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000486822Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))
Likely pathogenic
(Aug 16, 2016)
unknownclinical testing

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

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

Citation Link,

SCV005057618Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Dec 1, 2023)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity.

Yamashita T, Wu N, Kupfer G, Corless C, Joenje H, Grompe M, D'Andrea AD.

Blood. 1996 May 15;87(10):4424-32.

PubMed [citation]
PMID:
8639804

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, SCV000486822.2

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

From Baylor Genetics, SCV005057618.1

#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: Jun 17, 2024