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NM_213653.4(HJV):c.265T>C (p.Cys89Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 21, 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:
RCV003562289.2

Allele description [Variation Report for NM_213653.4(HJV):c.265T>C (p.Cys89Arg)]

NM_213653.4(HJV):c.265T>C (p.Cys89Arg)

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.265T>C (p.Cys89Arg)
HGVS:
  • NC_000001.11:g.146019567A>G
  • NG_011568.1:g.7256T>C
  • NG_011568.2:g.7168T>C
  • NM_001316767.2:c.-22+131T>C
  • NM_001379352.1:c.265T>C
  • NM_145277.5:c.-75T>C
  • NM_202004.4:c.-22+131T>C
  • NM_213652.4:c.-21-867T>C
  • NM_213653.4:c.265T>CMANE SELECT
  • NP_001366281.1:p.Cys89Arg
  • NP_998818.1:p.Cys89Arg
  • NC_000001.10:g.145415446T>C
Protein change:
C89R
Molecular consequence:
  • NM_145277.5:c.-75T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001316767.2:c.-22+131T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_202004.4:c.-22+131T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_213652.4:c.-21-867T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379352.1:c.265T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_213653.4:c.265T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004291987Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Sep 21, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Juvenile Hemochromatosis, Genetic Study and Long-term Follow up after Therapy.

Malekzadeh MM, Radmard AR, Nouroozi A, Akbari MR, Amini M, Navabakhsh B, Caleffi A, Pietrangelo A, Malekzadeh R.

Middle East J Dig Dis. 2014 Apr;6(2):87-92.

PubMed [citation]
PMID:
24872867
PMCID:
PMC4034669

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Ravasi G, Pelucchi S, Bertola F, Capelletti MM, Mariani R, Piperno A.

Genes (Basel). 2021 Nov 9;12(11). doi:pii: 1778. 10.3390/genes12111778.

PubMed [citation]
PMID:
34828384
PMCID:
PMC8623017
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004291987.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 89 of the HJV protein (p.Cys89Arg). This missense change has been observed in individual(s) with juvenile hemochromatosis (PMID: 24872867, 34828384). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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

Last Updated: Sep 29, 2024