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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:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002318966DASA
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 25, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.

Manohar V, Crowley L, Sreedharan J.

2009 Apr 23 [updated 2023 Jan 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical 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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024