NM_000410.4(HFE):c.692A>G (p.Tyr231Cys) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 19, 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:: RCV002799735.2

Allele description [Variation Report for NM_000410.4(HFE):c.692A>G (p.Tyr231Cys)]

NM_000410.4(HFE):c.692A>G (p.Tyr231Cys)

Gene:

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.692A>G (p.Tyr231Cys)

HGVS:

NC_000006.12:g.26092760A>G
NG_008720.2:g.10480A>G
NM_000410.4:c.692A>GMANE SELECT
NM_001300749.3:c.692A>G
NM_001384164.1:c.692A>G
NM_001406751.1:c.683A>G
NM_001406752.1:c.428A>G
NM_139003.3:c.374A>G
NM_139004.3:c.416A>G
NM_139006.3:c.650A>G
NM_139007.3:c.428A>G
NM_139008.3:c.386A>G
NM_139009.3:c.623A>G
NM_139010.3:c.152A>G
NM_139011.3:c.77-359A>G
NP_000401.1:p.Tyr231Cys
NP_000401.1:p.Tyr231Cys
NP_001287678.1:p.Tyr231Cys
NP_001287678.1:p.Tyr231Cys
NP_001371093.1:p.Tyr231Cys
NP_001393680.1:p.Tyr228Cys
NP_001393681.1:p.Tyr143Cys
NP_620572.1:p.Tyr125Cys
NP_620573.1:p.Tyr139Cys
NP_620575.1:p.Tyr217Cys
NP_620576.1:p.Tyr143Cys
NP_620577.1:p.Tyr129Cys
NP_620578.1:p.Tyr208Cys
NP_620579.1:p.Tyr51Cys
LRG_748t1:c.692A>G
LRG_748:g.10480A>G
LRG_748p1:p.Tyr231Cys
NC_000006.11:g.26092988A>G
NM_000410.3:c.692A>G
NM_001300749.2:c.692A>G

Protein change:

Y125C

Molecular consequence:

NM_139011.3:c.77-359A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000410.4:c.692A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001300749.3:c.692A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001384164.1:c.692A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406751.1:c.683A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406752.1:c.428A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139003.3:c.374A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139004.3:c.416A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139006.3:c.650A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139007.3:c.428A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139008.3:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139009.3:c.623A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139010.3:c.152A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Mus musculus calsyntenin 1 (Clstn1), mRNA
Mus musculus calsyntenin 1 (Clstn1), mRNA
gi|158508642|ref|NM_023051.4|

Nucleotide
Gasteracantha kuhlii voucher MUMNH-ARA-GAS042 histone 3 (H3) gene, partial cds
Gasteracantha kuhlii voucher MUMNH-ARA-GAS042 histone 3 (H3) gene, partial cds
gi|2032213554|gb|MT584963.1|

Nucleotide
Macracantha arcuata voucher MUMNH-ARA-MAC021 histone 3 (H3) gene, partial cds
Macracantha arcuata voucher MUMNH-ARA-MAC021 histone 3 (H3) gene, partial cds
gi|2032213562|gb|MT584967.1|

Nucleotide
Mus musculus, clone IMAGE:3156610, mRNA
Mus musculus, clone IMAGE:3156610, mRNA
gi|21595016|gb|BC031629.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003597702	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 19, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003597702

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 19, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003597702.2

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

Description

The c.692A>G (p.Y231C) alteration is located in exon 4 (coding exon 4) of the HFE gene. This alteration results from a A to G substitution at nucleotide position 692, causing the tyrosine (Y) at amino acid position 231 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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