NM_006363.6(SEC23B):c.74C>A (p.Pro25His) AND Congenital dyserythropoietic anemia, type II

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 28, 2019
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:: RCV000490449.10

Allele description [Variation Report for NM_006363.6(SEC23B):c.74C>A (p.Pro25His)]

NM_006363.6(SEC23B):c.74C>A (p.Pro25His)

Gene:

SEC23B:SEC23 homolog B, COPII coat complex component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p11.23

Genomic location:

Preferred name:

NM_006363.6(SEC23B):c.74C>A (p.Pro25His)

HGVS:

NC_000020.11:g.18510909C>A
NG_016281.2:g.8428C>A
NM_001172745.3:c.74C>A
NM_001172746.3:c.74C>A
NM_006363.6:c.74C>AMANE SELECT
NM_032985.6:c.74C>A
NM_032986.5:c.74C>A
NP_001166216.1:p.Pro25His
NP_001166217.1:p.Pro25His
NP_006354.2:p.Pro25His
NP_006354.2:p.Pro25His
NP_116780.1:p.Pro25His
NP_116781.1:p.Pro25His
LRG_1134t1:c.74C>A
LRG_1134:g.8428C>A
LRG_1134p1:p.Pro25His
NC_000020.10:g.18491553C>A
NM_006363.4:c.74C>A
NM_006363.6:c.74C>A

Protein change:

P25H

Links:

dbSNP: rs6045440

NCBI 1000 Genomes Browser:

rs6045440

Molecular consequence:

NM_001172745.3:c.74C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001172746.3:c.74C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006363.6:c.74C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_032985.6:c.74C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_032986.5:c.74C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital dyserythropoietic anemia, type II (CDAN2)
Synonyms:: DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE
Identifiers:: MONDO: MONDO:0009134; MedGen: C1306589; Orphanet: 98873; OMIM: 224100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267494	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 22428539, 25741868
SCV001141224	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Uncertain significance (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267494

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

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

SCV001141224

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Uncertain significance
(May 28, 2019)

unknown

clinical testing

Citation Link

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
East Asian	germline	unknown	1	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for congenital dyserythropoietic anaemia II (CDA II) and primary iron overload, respectively.

Liu G, Niu S, Dong A, Cai H, Anderson GJ, Han B, Nie G.

Br J Haematol. 2012 Jul;158(1):143-5. doi: 10.1111/j.1365-2141.2012.09102.x. Epub 2012 Mar 20. No abstract available.

PubMed [citation]

PMID:: 22428539

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267494.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	1	not provided	not provided	reference population	PubMed (2)

#	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		1	not provided	not provided	not provided

From Mendelics, SCV001141224.1

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

#	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: Jun 8, 2025

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