NM_006363.6(SEC23B):c.74C>A (p.Pro25His) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 4, 2020
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:: RCV000153925.21

Allele description

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_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

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV000203542	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Mar 10, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001159979	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Uncertain significance (Dec 4, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000203542

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Mar 10, 2014)

germline

clinical testing

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

Citation Link,

SCV001159979

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Uncertain significance
(Dec 4, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

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

Details of each submission

From Eurofins Ntd Llc (ga), SCV000203542.7

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001159979.3

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

Last Updated: Nov 18, 2024

ClinVar

Relating variation to medicine