NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) AND Hemochromatosis type 2B

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV001127434.11

Allele description [Variation Report for NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)]

NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)

Gene:

HAMP:hepcidin antimicrobial peptide [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.12

Genomic location:

Preferred name:

NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)

HGVS:

NC_000019.10:g.35284999G>A
NG_011563.2:g.7493G>A
NM_021175.3:c.212G>A
NM_021175.4:c.212G>AMANE SELECT
NP_066998.1:p.Gly71Asp
LRG_791t1:c.212G>A
LRG_791:g.7493G>A
LRG_791p1:p.Gly71Asp
NC_000019.9:g.35775902G>A
NG_011563.1:g.7493G>A
NM_021175.2:c.212G>A
P81172:p.Gly71Asp

Protein change:

G71D; GLY71ASP

Links:

UniProtKB: P81172#VAR_026648; OMIM: 606464.0004; dbSNP: rs104894696

NCBI 1000 Genomes Browser:

rs104894696

Molecular consequence:

NM_021175.4:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hemochromatosis type 2B (HFE2B)
Identifiers:: MONDO: MONDO:0013220; MedGen: C1865616; Orphanet: 79230; OMIM: 613313

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001286748	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 12915468, 19214511 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001286748

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A, McHugh PJ, Chapman RW, Pointon JJ, Wimhurst VL, Livesey KJ, Tanphaichitr V, Rochette J, Robson KJ.

Hum Mol Genet. 2003 Sep 1;12(17):2241-7. Epub 2003 Jul 15.

PubMed [citation]

PMID:: 12915468

Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.

Altès A, Bach V, Ruiz A, Esteve A, Felez J, Remacha AF, Sardà MP, Baiget M.

Ann Hematol. 2009 Oct;88(10):951-5. doi: 10.1007/s00277-009-0705-y. Epub 2009 Feb 13.

PubMed [citation]

PMID:: 19214511

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001286748.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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 8, 2024

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