NM_213653.4(HJV):c.238T>C (p.Cys80Arg) AND Hemochromatosis type 2A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2004
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:: RCV000002466.4

Allele description [Variation Report for NM_213653.4(HJV):c.238T>C (p.Cys80Arg)]

NM_213653.4(HJV):c.238T>C (p.Cys80Arg)

Gene:

HJV:hemojuvelin BMP co-receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.1

Genomic location:

Preferred name:

NM_213653.4(HJV):c.238T>C (p.Cys80Arg)

HGVS:

NC_000001.11:g.146019594A>G
NG_011568.1:g.7229T>C
NM_001316767.2:c.-22+104T>C
NM_001379352.1:c.238T>C
NM_145277.5:c.-102T>C
NM_202004.4:c.-22+104T>C
NM_213652.4:c.-21-894T>C
NM_213653.4:c.238T>CMANE SELECT
NP_001366281.1:p.Cys80Arg
NP_998818.1:p.Cys80Arg
NC_000001.10:g.145415419T>C
Q6ZVN8:p.Cys80Arg

Protein change:

C80R; CYS80ARG

Links:

UniProtKB: Q6ZVN8#VAR_019617; OMIM: 608374.0005; dbSNP: rs28940586

NCBI 1000 Genomes Browser:

rs28940586

Molecular consequence:

NM_145277.5:c.-102T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001316767.2:c.-22+104T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_202004.4:c.-22+104T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_213652.4:c.-21-894T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001379352.1:c.238T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_213653.4:c.238T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hemochromatosis type 2A (HFE2A)
Identifiers:: MONDO: MONDO:0011216; MedGen: C1865614; Orphanet: 79230; OMIM: 602390

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022624	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2004)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 12482411, 15461631

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022624

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2004)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships.

Barton JC, Rao SV, Pereira NM, Gelbart T, Beutler E, Rivers CA, Acton RT.

Blood Cells Mol Dis. 2002 Jul-Aug;29(1):104-15.

PubMed [citation]

PMID:: 12482411

Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

Lee PL, Barton JC, Brandhagen D, Beutler E.

Br J Haematol. 2004 Oct;127(2):224-9.

PubMed [citation]

PMID:: 15461631

Details of each submission

From OMIM, SCV000022624.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In affected members of a kindred with juvenile hemochromatosis (HFE2A; 602390) previously reported by Barton et al. (2002), Lee et al. (2004) identified a 238T-C transition in the HJV gene, resulting in a cys80-to-arg (C80R) substitution, in compound heterozygosity with a 302T-C transition, resulting in a leu101-to-pro substitution (L101P; 608374.0006). Remarkably, in another branch of the family, affected members were homozygous for the L101P mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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