U.S. flag

An official website of the United States government

NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 6, 2021
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:
RCV002013790.4

Allele description [Variation Report for NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter)]

NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter)

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.1155G>A (p.Trp385Ter)
HGVS:
  • NC_000001.11:g.11022564G>A
  • NG_008734.1:g.14943G>A
  • NM_007375.4:c.1155G>AMANE SELECT
  • NP_031401.1:p.Trp385Ter
  • LRG_659:g.14943G>A
  • NC_000001.10:g.11082621G>A
Protein change:
W385*
Links:
dbSNP: rs2100857066
NCBI 1000 Genomes Browser:
rs2100857066
Molecular consequence:
  • NM_007375.4:c.1155G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Amyotrophic lateral sclerosis type 10 (ALS10)
Synonyms:
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; TARDBP-Related Amyotrophic Lateral Sclerosis; AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND WITH TDP43 INCLUSIONS; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012790; MedGen: C2677565; Orphanet: 275872; Orphanet: 803; OMIM: 612069
Name:
TARDBP-related frontotemporal dementia
Synonyms:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Identifiers:
MedGen: C3150169

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002300374Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Feb 6, 2021) 		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

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, SCV002300374.3

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

Description

Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 with TARDBP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp385*) in the TARDBP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acid(s) of the TARDBP protein.

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

Last Updated: Sep 29, 2024