NM_213653.4(HJV):c.657+1G>C AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 5, 2022
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:: RCV002996803.3

Allele description [Variation Report for NM_213653.4(HJV):c.657+1G>C]

NM_213653.4(HJV):c.657+1G>C

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.657+1G>C

HGVS:

NC_000001.11:g.146019174C>G
NG_011568.2:g.7561G>C
NM_001316767.2:c.-21-474G>C
NM_001379352.1:c.657+1G>C
NM_145277.5:c.318+1G>C
NM_202004.4:c.-21-474G>C
NM_213652.4:c.-21-474G>C
NM_213653.4:c.657+1G>CMANE SELECT
NC_000001.10:g.145415839G>C
NG_011568.1:g.7649G>C

Molecular consequence:

NM_001316767.2:c.-21-474G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_202004.4:c.-21-474G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_213652.4:c.-21-474G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001379352.1:c.657+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_145277.5:c.318+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_213653.4:c.657+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Albizia julibrissin voucher S.B. Davis 0339 (FLAS) PsbA (psbA) gene, partial cds...
Albizia julibrissin voucher S.B. Davis 0339 (FLAS) PsbA (psbA) gene, partial cds; and psbA-trnH intergenic spacer, partial sequence; chloroplast
gi|559073056|gb|GU135433.2|

Nucleotide

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
SCV003314827	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 5, 2022)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 14982873, 19342478, 30195625, 17576681, 9536098, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003314827

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 5, 2022)

germline

clinical testing

PubMed (6)
[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

Iron overload in the Asian community.

Lok CY, Merryweather-Clarke AT, Viprakasit V, Chinthammitr Y, Srichairatanakool S, Limwongse C, Oleesky D, Robins AJ, Hudson J, Wai P, Premawardhena A, de Silva HJ, Dassanayake A, McKeown C, Jackson M, Gama R, Khan N, Newman W, Banait G, Chilton A, Wilson-Morkeh I, Weatherall DJ, et al.

Blood. 2009 Jul 2;114(1):20-5. doi: 10.1182/blood-2009-01-199109. Epub 2009 Apr 2.

PubMed [citation]

PMID:: 19342478

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003314827.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

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.Ala343Profs*24, p.Gly336*, p.Arg385*, p.Arg326*) have been determined to be pathogenic (PMID: 14982873, 19342478, 30195625). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 affects a donor splice site in intron 3 of the HJV gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.

#	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

ClinVar

Relating variation to medicine