NM_000410.4(HFE):c.829G>A (p.Glu277Lys) AND Hereditary hemochromatosis

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 31, 2024
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:: RCV001084109.9

Allele description [Variation Report for NM_000410.4(HFE):c.829G>A (p.Glu277Lys)]

NM_000410.4(HFE):c.829G>A (p.Glu277Lys)

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.829G>A (p.Glu277Lys)

HGVS:

NC_000006.12:g.26092897G>A
NG_008720.2:g.10617G>A
NM_000410.4:c.829G>AMANE SELECT
NM_001300749.3:c.829G>A
NM_001384164.1:c.829G>A
NM_001406751.1:c.820G>A
NM_001406752.1:c.565G>A
NM_139003.3:c.511G>A
NM_139004.3:c.553G>A
NM_139006.3:c.787G>A
NM_139007.3:c.565G>A
NM_139008.3:c.523G>A
NM_139009.3:c.760G>A
NM_139010.3:c.289G>A
NM_139011.3:c.77-222G>A
NP_000401.1:p.Glu277Lys
NP_000401.1:p.Glu277Lys
NP_001287678.1:p.Glu277Lys
NP_001287678.1:p.Glu277Lys
NP_001371093.1:p.Glu277Lys
NP_001393680.1:p.Glu274Lys
NP_001393681.1:p.Glu189Lys
NP_620572.1:p.Glu171Lys
NP_620573.1:p.Glu185Lys
NP_620575.1:p.Glu263Lys
NP_620576.1:p.Glu189Lys
NP_620577.1:p.Glu175Lys
NP_620578.1:p.Glu254Lys
NP_620579.1:p.Glu97Lys
LRG_748t1:c.829G>A
LRG_748:g.10617G>A
LRG_748p1:p.Glu277Lys
NC_000006.11:g.26093125G>A
NM_000410.3:c.829G>A
NM_001300749.2:c.829G>A
Q30201:p.Glu277Lys

Protein change:

E171K

Links:

UniProtKB: Q30201#VAR_008731; dbSNP: rs140080192

NCBI 1000 Genomes Browser:

rs140080192

Molecular consequence:

NM_139011.3:c.77-222G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000410.4:c.829G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001300749.3:c.829G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384164.1:c.829G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406751.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406752.1:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139003.3:c.511G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139004.3:c.553G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139006.3:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139007.3:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139008.3:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139009.3:c.760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139010.3:c.289G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary hemochromatosis (HFE)
Identifiers:: MONDO: MONDO:0006507; MedGen: C0392514; OMIM: PS235200

Recent activity

Clear Turn Off Turn On

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
SCV000557781	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000557781

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 31, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000557781.8

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

#	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: Oct 20, 2024

ClinVar

Relating variation to medicine