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NM_003227.4(TFR2):c.671T>G (p.Leu224Arg) AND Hemochromatosis type 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 29, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001250718.1

Allele description [Variation Report for NM_003227.4(TFR2):c.671T>G (p.Leu224Arg)]

NM_003227.4(TFR2):c.671T>G (p.Leu224Arg)

Gene:
TFR2:transferrin receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_003227.4(TFR2):c.671T>G (p.Leu224Arg)
HGVS:
  • NC_000007.14:g.100633284A>C
  • NG_007989.1:g.13267T>G
  • NM_001206855.3:c.158T>G
  • NM_003227.4:c.671T>GMANE SELECT
  • NP_001193784.1:p.Leu53Arg
  • NP_003218.2:p.Leu224Arg
  • NC_000007.13:g.100230907A>C
  • NM_003227.3:c.671T>G
  • p.Leu224Arg
Protein change:
L224R
Links:
dbSNP: rs1803502704
NCBI 1000 Genomes Browser:
rs1803502704
Molecular consequence:
  • NM_001206855.3:c.158T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003227.4:c.671T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hemochromatosis type 3 (HFE3)
Synonyms:
Hemochromatosis due to defect in transferrin receptor 2; Hereditary hemochromatosis type 3; TFR2-Related Hereditary Hemochromatosis
Identifiers:
MONDO: MONDO:0011417; MedGen: C1858664; Orphanet: 225123; OMIM: 604250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001335601Dept of Medicine and Surgery, University of Milano-Bicocca
no assertion criteria provided
Pathogenic
(Jan 29, 2019) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Dept of Medicine and Surgery, University of Milano-Bicocca, SCV001335601.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 9, 2023