NM_001709.5(BDNF):c.502G>T (p.Glu168Ter) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 20, 2016
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:: RCV000622995.2

Allele description [Variation Report for NM_001709.5(BDNF):c.502G>T (p.Glu168Ter)]

NM_001709.5(BDNF):c.502G>T (p.Glu168Ter)

Genes:

BDNF-AS:BDNF antisense RNA [Gene - OMIM - HGNC]
BDNF:brain derived neurotrophic factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p14.1

Genomic location:

Preferred name:

NM_001709.5(BDNF):c.502G>T (p.Glu168Ter)

HGVS:

NC_000011.10:g.27658063C>A
NG_011794.1:g.68996G>T
NM_001143805.1:c.502G>T
NM_001143806.1:c.502G>T
NM_001143807.2:c.502G>T
NM_001143808.2:c.502G>T
NM_001143809.2:c.589G>T
NM_001143810.2:c.748G>T
NM_001143811.2:c.502G>T
NM_001143812.2:c.502G>T
NM_001143813.2:c.502G>T
NM_001143814.2:c.502G>T
NM_001143816.2:c.502G>T
NM_001709.5:c.502G>TMANE SELECT
NM_170731.5:c.526G>T
NM_170732.4:c.502G>T
NM_170733.4:c.502G>T
NM_170734.4:c.547G>T
NM_170735.6:c.502G>T
NP_001137277.1:p.Glu168Ter
NP_001137278.1:p.Glu168Ter
NP_001137279.1:p.Glu168Ter
NP_001137280.1:p.Glu168Ter
NP_001137281.1:p.Glu197Ter
NP_001137282.1:p.Glu250Ter
NP_001137283.1:p.Glu168Ter
NP_001137284.1:p.Glu168Ter
NP_001137285.1:p.Glu168Ter
NP_001137286.1:p.Glu168Ter
NP_001137288.1:p.Glu168Ter
NP_001700.2:p.Glu168Ter
NP_733927.1:p.Glu176Ter
NP_733928.1:p.Glu168Ter
NP_733929.1:p.Glu168Ter
NP_733930.1:p.Glu183Ter
NP_733931.1:p.Glu168Ter
NP_733931.1:p.Glu168Ter
NC_000011.9:g.27679610C>A
NM_170735.5:c.502G>T

Protein change:

E168*

Links:

dbSNP: rs1554931219

NCBI 1000 Genomes Browser:

rs1554931219

Molecular consequence:

NM_001143805.1:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001143806.1:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001143807.2:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001143808.2:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001143809.2:c.589G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001143810.2:c.748G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001143811.2:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001143812.2:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001143813.2:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001143814.2:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001143816.2:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001709.5:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_170731.5:c.526G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_170732.4:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_170733.4:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_170734.4:c.547G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_170735.6:c.502G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741940	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Dec 20, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27699937, 24048383 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741940

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Dec 20, 2016)

germline

clinical testing

PubMed (2)
[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
Caucasian/Russian/Hungarian/Ashkenazi Jewish	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

The Role of BDNF in the Development of Fear Learning.

Dincheva I, Lynch NB, Lee FS.

Depress Anxiety. 2016 Oct;33(10):907-916. doi: 10.1002/da.22497. Review.

PubMed [citation]

PMID:: 27699937
PMCID:: PMC5089164

Val66Met polymorphism of BDNF alters prodomain structure to induce neuronal growth cone retraction.

Anastasia A, Deinhardt K, Chao MV, Will NE, Irmady K, Lee FS, Hempstead BL, Bracken C.

Nat Commun. 2013;4:2490. doi: 10.1038/ncomms3490. Erratum in: Nat Commun. 2014;5:3564.

PubMed [citation]

PMID:: 24048383
PMCID:: PMC3820160

Details of each submission

From Ambry Genetics, SCV000741940.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian/Russian/Hungarian/Ashkenazi Jewish	1	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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