NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) AND Frontotemporal lobar degeneration, TARDBP-related

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 25, 2022
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:: RCV002051795.11

Allele description [Variation Report for NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)]

NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)

Gene:

TARDBP:TAR DNA binding protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

Preferred name:

NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)

HGVS:

NC_000001.11:g.11022209A>G
NG_008734.1:g.14588A>G
NM_007375.4:c.800A>GMANE SELECT
NP_031401.1:p.Asn267Ser
NP_031401.1:p.Asn267Ser
LRG_659t1:c.800A>G
LRG_659:g.14588A>G
LRG_659p1:p.Asn267Ser
NC_000001.10:g.11082266A>G
NM_007375.3:c.800A>G
Q13148:p.Asn267Ser

Links:

UniProtKB: Q13148#VAR_058611; dbSNP: rs80356718

NCBI 1000 Genomes Browser:

rs80356718

Molecular consequence:

NM_007375.4:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Frontotemporal lobar degeneration, TARDBP-related
Identifiers:: MedGen: CN260035

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002318966	DASA	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 25, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20301761, 29895397, 19224587, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002318966

DASA

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 25, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Manohar V, Crowley L, Sreedharan J.

2009 Apr 23 [updated 2023 Jan 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301761

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis.

Narain P, Pandey A, Gupta S, Gomes J, Bhatia R, Vivekanandan P.

Neurobiol Aging. 2018 Nov;71:265.e9-265.e14. doi: 10.1016/j.neurobiolaging.2018.05.012. Epub 2018 May 17.

PubMed [citation]

PMID:: 29895397

See all PubMed Citations (4)

Details of each submission

From DASA, SCV002318966.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

Description

The c.800A>G;p.(Asn267Ser) missense change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 21482;PMID: 20301761; PMID: 29895397; PMID: 19224587)-PS4. The variant is present at low allele frequencies population databases (rs80356718 – gnomAD 0.0007566%; ABraOM 0.000427 frequency - http://abraom.ib.usp.br.) - PM2_supporting. Missense variant in TARDBP that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease - PP2. In summary, the currently available evidence indicates that the variant is likely pathogenic

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

Last Updated: Oct 26, 2024

ClinVar

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