NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=) AND Fanconi anemia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 12, 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:: RCV003636510.2

Allele description [Variation Report for NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=)]

NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=)

Gene:

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

Variant type:

Indel

Cytogenetic location:

11p14.3

Genomic location:

Preferred name:

NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=)

HGVS:

NC_000011.10:g.22625306_22625307delinsAT
NG_007425.1:g.5535_5536delinsAT
NG_122096.1:g.20_21delinsAT
NG_122096.2:g.94_95delinsAT
NM_022725.4:c.504_505delinsATMANE SELECT
NP_073562.1:p.Glu168_Leu169=
NP_073562.1:p.Glu168_Leu169=
LRG_527t1:c.504_505delGCinsAT
LRG_527:g.5535_5536delinsAT
LRG_527p1:p.Glu168_Leu169=
NC_000011.9:g.22646852_22646853delinsAT
NM_022725.3:c.504_505delGCinsAT

Molecular consequence:

NM_022725.4:c.504_505delinsAT - synonymous variant - [Sequence Ontology: SO:0001819]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004521369	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 12, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004521369

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 12, 2023)

germline

clinical testing

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

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

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, SCV004521369.1

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

Description

This sequence change affects codon 168 of the FANCF mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FANCF protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with FANCF-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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.

#	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: Sep 29, 2024

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