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NM_021922.3(FANCE):c.656G>A (p.Arg219Lys) AND Fanconi anemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2022
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:
RCV002255796.2

Allele description [Variation Report for NM_021922.3(FANCE):c.656G>A (p.Arg219Lys)]

NM_021922.3(FANCE):c.656G>A (p.Arg219Lys)

Gene:
FANCE:FA complementation group E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_021922.3(FANCE):c.656G>A (p.Arg219Lys)
HGVS:
  • NC_000006.12:g.35456154G>A
  • NG_011708.1:g.8794G>A
  • NM_021922.3:c.656G>AMANE SELECT
  • NP_068741.1:p.Arg219Lys
  • LRG_498t1:c.656G>A
  • LRG_498:g.8794G>A
  • NC_000006.11:g.35423931G>A
  • NM_021922.2:c.656G>A
Protein change:
R219K
Links:
dbSNP: rs551170184
NCBI 1000 Genomes Browser:
rs551170184
Molecular consequence:
  • NM_021922.3:c.656G>A - 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
SCV002527968Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Mar 1, 2022) 		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, SCV002527968.1

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

Last Updated: Oct 13, 2024