NM_001709.5(BDNF):c.610del (p.Trp204fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 12, 2023
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:: RCV003719409.2

Allele description [Variation Report for NM_001709.5(BDNF):c.610del (p.Trp204fs)]

NM_001709.5(BDNF):c.610del (p.Trp204fs)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

11p14.1

Genomic location:

Preferred name:

NM_001709.5(BDNF):c.610del (p.Trp204fs)

HGVS:

NC_000011.10:g.27657956del
NG_011794.1:g.69104del
NG_011794.2:g.69075del
NM_001143805.1:c.610del
NM_001143806.1:c.610del
NM_001143807.2:c.610del
NM_001143808.2:c.610del
NM_001143809.2:c.697del
NM_001143810.2:c.856del
NM_001143811.2:c.610del
NM_001143812.2:c.610del
NM_001143813.2:c.610del
NM_001143814.2:c.610del
NM_001143816.2:c.610del
NM_001709.5:c.610delMANE SELECT
NM_170731.5:c.634del
NM_170732.4:c.610del
NM_170733.4:c.610del
NM_170734.4:c.655del
NM_170735.6:c.610del
NP_001137277.1:p.Trp204fs
NP_001137278.1:p.Trp204fs
NP_001137279.1:p.Trp204fs
NP_001137280.1:p.Trp204fs
NP_001137281.1:p.Trp233fs
NP_001137282.1:p.Trp286fs
NP_001137283.1:p.Trp204fs
NP_001137284.1:p.Trp204fs
NP_001137285.1:p.Trp204fs
NP_001137286.1:p.Trp204fs
NP_001137288.1:p.Trp204fs
NP_001700.2:p.Trp204fs
NP_733927.1:p.Trp212fs
NP_733928.1:p.Trp204fs
NP_733929.1:p.Trp204fs
NP_733930.1:p.Trp219fs
NP_733931.1:p.Trp204fs
NC_000011.9:g.27679502del
NC_000011.9:g.27679503del

Protein change:

W204fs

Molecular consequence:

NM_001143805.1:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001143806.1:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001143807.2:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001143808.2:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001143809.2:c.697del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001143810.2:c.856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001143811.2:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001143812.2:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001143813.2:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001143814.2:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001143816.2:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001709.5:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170731.5:c.634del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170732.4:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170733.4:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170734.4:c.655del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170735.6:c.610del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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TMEM30A transmembrane protein 30A [Bos taurus]
TMEM30A transmembrane protein 30A [Bos taurus]
Gene ID:505797

Gene
505797[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004501161	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 12, 2023)	germline	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

SCV004501161

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 12, 2023)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004501161.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with BDNF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp204Glyfs*28) in the BDNF gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 44 amino acid(s) of the BDNF protein.

#	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: Sep 29, 2024

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