NM_000410.4(HFE):c.68G>A (p.Arg23His) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: May 14, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV001565567.15

Allele description [Variation Report for NM_000410.4(HFE):c.68G>A (p.Arg23His)]

NM_000410.4(HFE):c.68G>A (p.Arg23His)

Genes:

HFE-AS1:HFE antisense RNA 1 [Gene - HGNC]
HFE:homeostatic iron regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.2

Genomic location:

Preferred name:

NM_000410.4(HFE):c.68G>A (p.Arg23His)

HGVS:

NC_000006.12:g.26087508G>A
NG_008720.2:g.5228G>A
NM_000410.4:c.68G>AMANE SELECT
NM_001300749.3:c.68G>A
NM_001384164.1:c.68G>A
NM_001406751.1:c.68G>A
NM_001406752.1:c.68G>A
NM_139003.3:c.68G>A
NM_139004.3:c.68G>A
NM_139006.3:c.68G>A
NM_139007.3:c.68G>A
NM_139008.3:c.68G>A
NM_139009.3:c.68G>A
NM_139010.3:c.68G>A
NM_139011.3:c.68G>A
NP_000401.1:p.Arg23His
NP_000401.1:p.Arg23His
NP_001287678.1:p.Arg23His
NP_001287678.1:p.Arg23His
NP_001371093.1:p.Arg23His
NP_001393680.1:p.Arg23His
NP_001393681.1:p.Arg23His
NP_620572.1:p.Arg23His
NP_620573.1:p.Arg23His
NP_620575.1:p.Arg23His
NP_620576.1:p.Arg23His
NP_620577.1:p.Arg23His
NP_620578.1:p.Arg23His
NP_620579.1:p.Arg23His
NP_620580.1:p.Arg23His
LRG_748t1:c.68G>A
LRG_748:g.5228G>A
LRG_748p1:p.Arg23His
NC_000006.11:g.26087736G>A
NM_000410.3:c.68G>A
NM_001300749.2:c.68G>A
NR_144383.1:n.967C>T

Protein change:

R23H

Links:

dbSNP: rs148161858

NCBI 1000 Genomes Browser:

rs148161858

Molecular consequence:

NM_000410.4:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001300749.3:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384164.1:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406751.1:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406752.1:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139003.3:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139004.3:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139006.3:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139007.3:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139008.3:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139009.3:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139010.3:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139011.3:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_144383.1:n.967C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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
SCV001788935	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 14, 2024)	germline	clinical testing	Citation Link,
SCV004699599	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jan 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001788935

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 14, 2024)

germline

clinical testing

Citation Link,

SCV004699599

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jan 1, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001788935.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26582918)

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

From CeGaT Center for Human Genetics Tuebingen, SCV004699599.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

HFE: BS2

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

Last Updated: Oct 20, 2024

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