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NM_022725.4(FANCF):c.812C>T (p.Ser271Phe) AND Fanconi anemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 17, 2021
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:
RCV002258417.2

Allele description [Variation Report for NM_022725.4(FANCF):c.812C>T (p.Ser271Phe)]

NM_022725.4(FANCF):c.812C>T (p.Ser271Phe)

Gene:
FANCF:FA complementation group F [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p14.3
Genomic location:
Preferred name:
NM_022725.4(FANCF):c.812C>T (p.Ser271Phe)
HGVS:
  • NC_000011.10:g.22624999G>A
  • NG_007425.1:g.5843C>T
  • NM_022725.4:c.812C>TMANE SELECT
  • NP_073562.1:p.Ser271Phe
  • LRG_527t1:c.812C>T
  • LRG_527:g.5843C>T
  • NC_000011.9:g.22646545G>A
  • NM_022725.3:c.812C>T
Protein change:
S271F
Links:
dbSNP: rs1417824608
NCBI 1000 Genomes Browser:
rs1417824608
Molecular consequence:
  • NM_022725.4:c.812C>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002530504Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Jun 17, 2021) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002530504.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024