NM_022725.4(FANCF):c.654_655del (p.Gln219fs) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 2023
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:: RCV003155625.1

Allele description [Variation Report for NM_022725.4(FANCF):c.654_655del (p.Gln219fs)]

NM_022725.4(FANCF):c.654_655del (p.Gln219fs)

Gene:

FANCF:FA complementation group F [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p14.3

Genomic location:

Preferred name:

NM_022725.4(FANCF):c.654_655del (p.Gln219fs)

HGVS:

NC_000011.10:g.22625158_22625159del
NG_007425.1:g.5685_5686del
NM_022725.4:c.654_655delMANE SELECT
NP_073562.1:p.Gln219Argfs
NP_073562.1:p.Gln219fs
LRG_527t1:c.652_653del
LRG_527:g.5685_5686del
LRG_527p1:p.Gln219Argfs
NC_000011.9:g.22646704_22646705del
NM_022725.3:c.652_653delCC
NM_022725.3:c.654_655delCC

Protein change:

Q219fs

Molecular consequence:

NM_022725.4:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003844326	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Feb 28, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003844326

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Feb 28, 2023)

germline

clinical testing

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

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

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease.

Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, et al.

JAMA Cardiol. 2021 Apr 1;6(4):457-462. doi: 10.1001/jamacardio.2020.4947.

PubMed [citation]

PMID:: 33084842
PMCID:: PMC7578917

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003844326.1

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

Description

Variant summary: FANCF c.654_655delCC (p.Gln219ArgfsX46) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein. Truncations downstream of this position have been classified as uncertain significance by our laboratory and in ClinVar. The variant was absent in 246904 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.654_655delCC has not been reported in the literature in individuals affected with Fanconi Anemia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Apr 1, 2023

ClinVar

Relating variation to medicine