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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004521369Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Dec 12, 2023)
germlineclinical testing

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

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. 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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.

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

Last Updated: Sep 29, 2024