NM_003227.4(TFR2):c.2227del (p.Ala743fs) AND Hemochromatosis type 3

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 13, 2022
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:: RCV003474080.1

Allele description [Variation Report for NM_003227.4(TFR2):c.2227del (p.Ala743fs)]

NM_003227.4(TFR2):c.2227del (p.Ala743fs)

Gene:

TFR2:transferrin receptor 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_003227.4(TFR2):c.2227del (p.Ala743fs)

HGVS:

NC_000007.14:g.100621036del
NG_007989.1:g.25515del
NM_001206855.3:c.1714del
NM_003227.4:c.2227delMANE SELECT
NP_001193784.1:p.Ala572fs
NP_003218.2:p.Ala743fs
NC_000007.13:g.100218659del

Protein change:

A572fs

Molecular consequence:

NM_001206855.3:c.1714del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003227.4:c.2227del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hemochromatosis type 3 (HFE3)
Synonyms:: Hemochromatosis due to defect in transferrin receptor 2; Hereditary hemochromatosis type 3; TFR2-Related Hereditary Hemochromatosis
Identifiers:: MONDO: MONDO:0011417; MedGen: C1858664; Orphanet: 225123; OMIM: 604250

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004203713	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 13, 2022)	unknown	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

SCV004203713

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 13, 2022)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Baylor Genetics, SCV004203713.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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