NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 11, 2024
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:: RCV004526089.1

Allele description [Variation Report for NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)]

NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)

Gene:

EIF2B5:eukaryotic translation initiation factor 2B subunit epsilon [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

Preferred name:

NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)

HGVS:

NC_000003.12:g.184140120G>A
NG_015826.1:g.10099G>A
NM_003907.3:c.806G>AMANE SELECT
NP_003898.2:p.Arg269Gln
LRG_1278t1:c.806G>A
LRG_1278:g.10099G>A
LRG_1278p1:p.Arg269Gln
NC_000003.11:g.183857908G>A
NM_003907.2:c.806G>A

Protein change:

R269Q

Links:

dbSNP: rs113994057

NCBI 1000 Genomes Browser:

rs113994057

Molecular consequence:

NM_003907.3:c.806G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005039569	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Mar 11, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25761052, 35389136, 16864840 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005039569

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Mar 11, 2024)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.

Zhang H, Dai L, Chen N, Zang L, Leng X, Du L, Wang J, Jiang Y, Zhang F, Wu X, Wu Y.

PLoS One. 2015;10(3):e0118001. doi: 10.1371/journal.pone.0118001.

PubMed [citation]

PMID:: 25761052
PMCID:: PMC4356545

Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.

Ren Y, Yu X, Chen B, Tang H, Niu S, Wang X, Pan H, Zhang Z.

Neurol Sci. 2022 Aug;43(8):4961-4977. doi: 10.1007/s10072-022-06011-0. Epub 2022 Apr 7. Review.

PubMed [citation]

PMID:: 35389136

See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005039569.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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: Jul 15, 2024

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