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NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) AND TARDBP-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 26, 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:
RCV003904854.2

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]

Condition(s)

Name:
TARDBP-related disorder
Synonyms:
TARDBP-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004728195PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 26, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 PreventionGenetics, part of Exact Sciences, SCV004728195.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The TARDBP c.800A>G variant is predicted to result in the amino acid substitution p.Asn267Ser. This variant has been reported in multiple unrelated individuals with TARDBP-related conditions such as amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), corticobasal syndrome (CBS), Parkinson disease (PD), and Alzheimer disease (AD, see for example: Corrado et al. 2009. PubMed ID: 19224587; Borroni et al. 2009. PubMed ID: 19655382; Huey et al. 2011. PubMed ID: 21943958; Rayaprolu et al. 2012. PubMed ID: 23231971; Fernández et al. 2017. PubMed ID: 29091718). This variant is reported in 0.023% of alleles in individuals of South Asian descent in gnomAD. This missense variant is located within the known mutational hotspot of TARDBP. This variant is interpreted as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024