NM_213653.4(HJV):c.399del (p.Ala134fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 5, 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:: RCV002994957.2

Allele description [Variation Report for NM_213653.4(HJV):c.399del (p.Ala134fs)]

NM_213653.4(HJV):c.399del (p.Ala134fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q21.1

Genomic location:

Preferred name:

NM_213653.4(HJV):c.399del (p.Ala134fs)

HGVS:

NC_000001.11:g.146019436del
NG_011568.1:g.7390del
NG_011568.2:g.7302del
NM_001316767.2:c.-22+265del
NM_001379352.1:c.399del
NM_145277.5:c.60del
NM_202004.4:c.-22+265del
NM_213652.4:c.-21-733del
NM_213653.3:c.399del
NM_213653.4:c.399delMANE SELECT
NP_001366281.1:p.Ala134fs
NP_660320.3:p.Ala21fs
NP_998818.1:p.Ala134fs
NC_000001.10:g.145415577del
NC_000001.10:g.145415580del

Protein change:

A134fs

Molecular consequence:

NM_001379352.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_145277.5:c.60del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_213653.4:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001316767.2:c.-22+265del - intron variant - [Sequence Ontology: SO:0001627]
NM_202004.4:c.-22+265del - intron variant - [Sequence Ontology: SO:0001627]
NM_213652.4:c.-21-733del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003300152	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 5, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 14982873, 30389309, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003300152

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 5, 2023)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

Lanzara C, Roetto A, Daraio F, Rivard S, Ficarella R, Simard H, Cox TM, Cazzola M, Piperno A, Gimenez-Roqueplo AP, Grammatico P, Volinia S, Gasparini P, Camaschella C.

Blood. 2004 Jun 1;103(11):4317-21. Epub 2004 Feb 24.

PubMed [citation]

PMID:: 14982873

Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?

Hamdi-Rozé H, Ben Ali Z, Ropert M, Detivaud L, Aggoune S, Simon D, Pelletier G, Deugnier Y, David V, Bardou-Jacquet E.

Blood Cells Mol Dis. 2019 Feb;74:30-33. doi: 10.1016/j.bcmd.2018.10.006. Epub 2018 Oct 22.

PubMed [citation]

PMID:: 30389309

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003300152.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Ala134Profs*112) in the HJV gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 293 amino acid(s) of the HJV protein. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the HJV protein in which other variant(s) (p.Arg385*) have been determined to be pathogenic (PMID: 14982873, 30389309). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 2084916). This variant has not been reported in the literature in individuals affected with HJV-related conditions.

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

Last Updated: Mar 16, 2024

ClinVar

Relating variation to medicine