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NM_022725.4(FANCF):c.943dup (p.Cys315fs) AND Fanconi anemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 18, 2018
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:
RCV000824594.4

Allele description [Variation Report for NM_022725.4(FANCF):c.943dup (p.Cys315fs)]

NM_022725.4(FANCF):c.943dup (p.Cys315fs)

Genes:
LOC130005443:ATAC-STARR-seq lymphoblastoid active region 4533 [Gene]
FANCF:FA complementation group F [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p14.3
Genomic location:
Preferred name:
NM_022725.4(FANCF):c.943dup (p.Cys315fs)
HGVS:
  • NC_000011.10:g.22624868dup
  • NG_007425.1:g.5974dup
  • NM_022725.4:c.943dupMANE SELECT
  • NP_073562.1:p.Cys315fs
  • LRG_527:g.5974dup
  • NC_000011.9:g.22646413_22646414insA
  • NC_000011.9:g.22646414dup
  • NM_022725.3:c.943dupT
Protein change:
C315fs
Links:
dbSNP: rs1590540654
NCBI 1000 Genomes Browser:
rs1590540654
Molecular consequence:
  • NM_022725.4:c.943dup - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000965497Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 18, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000965497.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with FANCF-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the FANCF gene (p.Cys315Leufs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acids of the FANCF protein.

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

Last Updated: Feb 20, 2024