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NM_000136.3(FANCC):c.49_56del (p.Gln17fs) AND Fanconi anemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 5, 2022
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:
RCV002847200.3

Allele description [Variation Report for NM_000136.3(FANCC):c.49_56del (p.Gln17fs)]

NM_000136.3(FANCC):c.49_56del (p.Gln17fs)

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.49_56del (p.Gln17fs)
HGVS:
  • NC_000009.12:g.95249236_95249243del
  • NG_011707.1:g.73467_73474del
  • NM_000136.3:c.49_56delMANE SELECT
  • NM_001243743.2:c.49_56del
  • NM_001243744.2:c.49_56del
  • NP_000127.2:p.Gln17Phefs
  • NP_000127.2:p.Gln17fs
  • NP_001230672.1:p.Gln17fs
  • NP_001230673.1:p.Gln17fs
  • LRG_497t1:c.49_56del
  • LRG_497:g.73467_73474del
  • LRG_497p1:p.Gln17Phefs
  • NC_000009.11:g.98011518_98011525del
  • NM_000136.2:c.49_56delCAGAAGCT
Protein change:
Q17fs
Molecular consequence:
  • NM_000136.3:c.49_56del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243743.2:c.49_56del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243744.2:c.49_56del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Fanconi anemia (FA)
Synonyms:
Fanconi pancytopenia; Fanconi's anemia
Identifiers:
MONDO: MONDO:0019391; MeSH: D005199; MedGen: C0015625; Orphanet: 84; OMIM: PS227650

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003227074Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 5, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

Ameziane N, Errami A, Léveillé F, Fontaine C, de Vries Y, van Spaendonk RM, de Winter JP, Pals G, Joenje H.

Hum Mutat. 2008 Jan;29(1):159-66.

PubMed [citation]
PMID:
17924555

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003227074.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant has not been reported in the literature in individuals affected with FANCC-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln17Phefs*31) in the FANCC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024