NM_001709.5(BDNF):c.557G>A (p.Cys186Tyr) AND Obesity

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 13, 2020
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:: RCV001261409.2

Allele description [Variation Report for NM_001709.5(BDNF):c.557G>A (p.Cys186Tyr)]

NM_001709.5(BDNF):c.557G>A (p.Cys186Tyr)

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.557G>A (p.Cys186Tyr)

HGVS:

NC_000011.10:g.27658008C>T
NG_011794.1:g.69051G>A
NM_001143805.1:c.557G>A
NM_001143806.1:c.557G>A
NM_001143807.2:c.557G>A
NM_001143808.2:c.557G>A
NM_001143809.2:c.644G>A
NM_001143810.2:c.803G>A
NM_001143811.2:c.557G>A
NM_001143812.2:c.557G>A
NM_001143813.2:c.557G>A
NM_001143814.2:c.557G>A
NM_001143816.2:c.557G>A
NM_001709.5:c.557G>AMANE SELECT
NM_170731.5:c.581G>A
NM_170732.4:c.557G>A
NM_170733.4:c.557G>A
NM_170734.4:c.602G>A
NM_170735.6:c.557G>A
NP_001137277.1:p.Cys186Tyr
NP_001137278.1:p.Cys186Tyr
NP_001137279.1:p.Cys186Tyr
NP_001137280.1:p.Cys186Tyr
NP_001137281.1:p.Cys215Tyr
NP_001137282.1:p.Cys268Tyr
NP_001137283.1:p.Cys186Tyr
NP_001137284.1:p.Cys186Tyr
NP_001137285.1:p.Cys186Tyr
NP_001137286.1:p.Cys186Tyr
NP_001137288.1:p.Cys186Tyr
NP_001700.2:p.Cys186Tyr
NP_733927.1:p.Cys194Tyr
NP_733928.1:p.Cys186Tyr
NP_733929.1:p.Cys186Tyr
NP_733930.1:p.Cys201Tyr
NP_733931.1:p.Cys186Tyr
NC_000011.9:g.27679555C>T
NM_170735.5:c.557G>A

Protein change:

C186Y

Links:

dbSNP: rs1852795747

NCBI 1000 Genomes Browser:

rs1852795747

Molecular consequence:

NM_001143805.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001143806.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001143807.2:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001143808.2:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001143809.2:c.644G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001143810.2:c.803G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001143811.2:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001143812.2:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001143813.2:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001143814.2:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001143816.2:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001709.5:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170731.5:c.581G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170732.4:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170733.4:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170734.4:c.602G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170735.6:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Obesity
Synonyms:: Obesity disorder
Identifiers:: MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001438331	Institute of Human Genetics, University of Goettingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 13, 2020)	de novo	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

SCV001438331

Institute of Human Genetics, University of Goettingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 13, 2020)

de novo

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	de novo	yes	1	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 Institute of Human Genetics, University of Goettingen, SCV001438331.1

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

Description

ACMG criteria used for classification: PS2, PM2, PP3, BP1.

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

Last Updated: Jun 9, 2024

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