NM_213653.4(HJV):c.143C>A (p.Ser48Ter) AND not provided

Germline classification:: 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:: RCV003839476.2

Allele description [Variation Report for NM_213653.4(HJV):c.143C>A (p.Ser48Ter)]

NM_213653.4(HJV):c.143C>A (p.Ser48Ter)

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.143C>A (p.Ser48Ter)

HGVS:

NC_000001.11:g.146019689G>T
NG_011568.1:g.7134C>A
NG_011568.2:g.7046C>A
NM_001316767.2:c.-22+9C>A
NM_001379352.1:c.143C>A
NM_145277.5:c.-197C>A
NM_202004.4:c.-22+9C>A
NM_213652.4:c.-21-989C>A
NM_213653.4:c.143C>AMANE SELECT
NP_001366281.1:p.Ser48Ter
NP_998818.1:p.Ser48Ter
NC_000001.10:g.145415324C>A

Protein change:

S48*

Molecular consequence:

NM_145277.5:c.-197C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001316767.2:c.-22+9C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_202004.4:c.-22+9C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_213652.4:c.-21-989C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001379352.1:c.143C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_213653.4:c.143C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004638631	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 21, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20301349, 22408404, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004638631

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 21, 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

Juvenile Hemochromatosis.

Piperno A, Bertola F, Bentivegna A.

2005 Feb 17 [updated 2020 Jan 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301349

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL, Krieger JE, Pereira AC.

Int J Mol Sci. 2012;13(2):1497-1511. doi: 10.3390/ijms13021497. Epub 2012 Feb 1. Review.

PubMed [citation]

PMID:: 22408404
PMCID:: PMC3291973

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004638631.1

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HJV-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser48*) in the HJV gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HJV are known to be pathogenic (PMID: 20301349, 22408404).

#	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: Sep 29, 2024

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