NM_014585.6(SLC40A1):c.134C>A (p.Ala45Glu) AND Hemochromatosis type 4

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 1, 2020
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:: RCV001420117.1

Allele description [Variation Report for NM_014585.6(SLC40A1):c.134C>A (p.Ala45Glu)]

NM_014585.6(SLC40A1):c.134C>A (p.Ala45Glu)

Gene:

SLC40A1:solute carrier family 40 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

Preferred name:

NM_014585.6(SLC40A1):c.134C>A (p.Ala45Glu)

HGVS:

NC_000002.12:g.189575298G>T
NG_009027.1:g.10514C>A
NM_014585.6:c.134C>AMANE SELECT
NP_055400.1:p.Ala45Glu
LRG_837t1:c.134C>A
LRG_837:g.10514C>A
NC_000002.11:g.190440024G>T
NM_014585.5:c.134C>A

Protein change:

A45E

Links:

dbSNP: rs752405201

NCBI 1000 Genomes Browser:

rs752405201

Molecular consequence:

NM_014585.6:c.134C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hemochromatosis type 4 (HFE4)
Synonyms:: Hemochromatosis, autosomal dominant; Hemochromatosis due to defect in ferroportin
Identifiers:: MONDO: MONDO:0011631; MedGen: C1853733; Orphanet: 139491; OMIM: 606069

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001445829	Laboratory of Molecular Genetics and Genomics, Rennes University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 1, 2020)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21199650, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001445829

Laboratory of Molecular Genetics and Genomics, Rennes University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 1, 2020)

germline

clinical testing

PubMed (2)
[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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sex and acquired cofactors determine phenotypes of ferroportin disease.

Le Lan C, Mosser A, Ropert M, Detivaud L, Loustaud-Ratti V, Vital-Durand D, Roget L, Bardou-Jacquet E, Turlin B, David V, Loréal O, Deugnier Y, Brissot P, Jouanolle AM.

Gastroenterology. 2011 Apr;140(4):1199-1207.e1-2. doi: 10.1053/j.gastro.2010.12.049. Epub 2011 Jan 1.

PubMed [citation]

PMID:: 21199650

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Molecular Genetics and Genomics, Rennes University Hospital, SCV001445829.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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

Last Updated: Jul 15, 2024

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