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NM_000410.4(HFE):c.50C>T (p.Thr17Ile) AND Hemochromatosis type 1

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Feb 8, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001157772.7

Allele description [Variation Report for NM_000410.4(HFE):c.50C>T (p.Thr17Ile)]

NM_000410.4(HFE):c.50C>T (p.Thr17Ile)

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.50C>T (p.Thr17Ile)
HGVS:
  • NC_000006.12:g.26087490C>T
  • NG_008720.2:g.5210C>T
  • NM_000410.4:c.50C>TMANE SELECT
  • NM_001300749.3:c.50C>T
  • NM_001384164.1:c.50C>T
  • NM_001406751.1:c.50C>T
  • NM_001406752.1:c.50C>T
  • NM_139003.3:c.50C>T
  • NM_139004.3:c.50C>T
  • NM_139006.3:c.50C>T
  • NM_139007.3:c.50C>T
  • NM_139008.3:c.50C>T
  • NM_139009.3:c.50C>T
  • NM_139010.3:c.50C>T
  • NM_139011.3:c.50C>T
  • NP_000401.1:p.Thr17Ile
  • NP_000401.1:p.Thr17Ile
  • NP_001287678.1:p.Thr17Ile
  • NP_001287678.1:p.Thr17Ile
  • NP_001371093.1:p.Thr17Ile
  • NP_001393680.1:p.Thr17Ile
  • NP_001393681.1:p.Thr17Ile
  • NP_620572.1:p.Thr17Ile
  • NP_620573.1:p.Thr17Ile
  • NP_620575.1:p.Thr17Ile
  • NP_620576.1:p.Thr17Ile
  • NP_620577.1:p.Thr17Ile
  • NP_620578.1:p.Thr17Ile
  • NP_620579.1:p.Thr17Ile
  • NP_620580.1:p.Thr17Ile
  • LRG_748t1:c.50C>T
  • LRG_748:g.5210C>T
  • LRG_748p1:p.Thr17Ile
  • NC_000006.11:g.26087718C>T
  • NM_000410.3:c.50C>T
  • NM_001300749.2:c.50C>T
  • NR_144383.1:n.985G>A
Protein change:
T17I
Links:
dbSNP: rs143662783
NCBI 1000 Genomes Browser:
rs143662783
Molecular consequence:
  • NM_000410.4:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300749.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384164.1:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406751.1:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406752.1:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139003.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139004.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139006.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139007.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139008.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139009.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139010.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139011.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_144383.1:n.985G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hemochromatosis type 1 (HFE1)
Synonyms:
HFE-Associated Hereditary Hemochromatosis
Identifiers:
MONDO: MONDO:0021001; MedGen: C3469186; OMIM: 235200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001319372Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

Citation Link,

SCV003802200Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 8, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 Illumina Laboratory Services, Illumina, SCV001319372.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Genome-Nilou Lab, SCV003802200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024