NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 12, 2021
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:: RCV001021181.11

Allele description [Variation Report for NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)]

NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)

Gene:

FANCC:FA complementation group C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

Preferred name:

NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)

Other names:

p.Q13*:CAG>TAG

HGVS:

NC_000009.12:g.95249255G>A
NG_011707.1:g.73455C>T
NM_000136.3:c.37C>TMANE SELECT
NM_001243743.2:c.37C>T
NM_001243744.2:c.37C>T
NP_000127.2:p.Gln13Ter
NP_000127.2:p.Gln13Ter
NP_001230672.1:p.Gln13Ter
NP_001230673.1:p.Gln13Ter
NP_001230673.1:p.Gln13Ter
LRG_497t1:c.37C>T
LRG_497:g.73455C>T
LRG_497p1:p.Gln13Ter
NC_000009.11:g.98011537G>A
NM_000136.2:c.37C>T
NM_001243744.1:c.37C>T
c.37C>T (p.Gln13*)
p.Gln13Stop

Protein change:

Q13*; GLN13TER

Links:

OMIM: 613899.0004; dbSNP: rs121917784

NCBI 1000 Genomes Browser:

rs121917784

Molecular consequence:

NM_000136.3:c.37C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001243743.2:c.37C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001243744.2:c.37C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001182762	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 12, 2021)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 26681312, 26740942, 33471991, 8103176, 8128956, 8844212, 9207444 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001182762

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 12, 2021)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK.

Genet Med. 2016 Aug;18(8):823-32. doi: 10.1038/gim.2015.166. Epub 2015 Dec 17. Erratum in: Genet Med. 2016 May;18(5):531-2. doi: 10.1038/gim.2016.21.

PubMed [citation]

PMID:: 26681312
PMCID:: PMC4985612

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

Nicchia E, Greco C, De Rocco D, Pecile V, D'Eustacchio A, Cappelli E, Corti P, Marra N, Ramenghi U, Pillon M, Farruggia P, Dufour C, Pallavicini A, Torelli L, Savoia A.

Mol Genet Genomic Med. 2015 Nov;3(6):500-12. doi: 10.1002/mgg3.160.

PubMed [citation]

PMID:: 26740942
PMCID:: PMC4694132

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV001182762.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

The p.Q13* pathogenic mutation (also known as c.37C>T), located in coding exon 1 of the FANCC gene, results from a C to T substitution at nucleotide position 37. This changes the amino acid from a glutamine to a stop codon within coding exon 1. This alteration has been reported in the homozygous and compound heterozygous state in multiple individuals with a clinical diagnosis of Fanconi anemia (Verlander PC et al. Am. J. Hum. Genet., 1994 Apr;54:595-601; Murer-Orlando M et al. Lancet, 1993 Sep;342:686; Gillio AP et al. Blood, 1997 Jul;90:105-10; Nicchia E et al. Mol Genet Genomic Med, 2015 Nov;3:500-12). In addition to the information presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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