NM_000410.4(HFE):c.1006+1G>A AND Hemochromatosis type 1

Clinical significance:Likely pathogenic (Last evaluated: May 6, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001376186.1

Allele description [Variation Report for NM_000410.4(HFE):c.1006+1G>A]

NM_000410.4(HFE):c.1006+1G>A

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.1006+1G>A
HGVS:
  • NC_000006.12:g.26093233G>A
  • NG_008720.2:g.10953G>A
  • NM_000410.4:c.1006+1G>AMANE SELECT
  • NM_001300749.2:c.1006+1G>A
  • NM_001384164.1:c.1006+1G>A
  • NM_139003.3:c.688+1G>A
  • NM_139004.3:c.730+1G>A
  • NM_139006.3:c.964+1G>A
  • NM_139007.3:c.742+1G>A
  • NM_139008.3:c.700+1G>A
  • NM_139009.3:c.937+1G>A
  • NM_139010.3:c.466+1G>A
  • NM_139011.3:c.190+1G>A
  • LRG_748:g.10953G>A
  • NC_000006.11:g.26093461G>A
Molecular consequence:
  • NM_000410.4:c.1006+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001300749.2:c.1006+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001384164.1:c.1006+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_139003.3:c.688+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_139004.3:c.730+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_139006.3:c.964+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_139007.3:c.742+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_139008.3:c.700+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_139009.3:c.937+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_139010.3:c.466+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_139011.3:c.190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
15

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001573238School of Computer Science,University of Waterloocriteria provided, single submitter
Likely pathogenic
(May 6, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Vietnamesegermlineno15not 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 School of Computer Science,University of Waterloo, SCV001573238.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Vietnamese15not providednot providedclinical testing PubMed (1)

Description

Evidence categories PVS1 and PM2 in ACMG guidelines. This is a splice donor variant in gene HFE that may disrupt mRNA splicing and result in an absent or disrupted protein product.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot provided15not providednot providednot provided

Last Updated: Oct 7, 2021

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