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NM_001101362.3(KBTBD13):c.292G>T (p.Glu98Ter) AND Nemaline myopathy 6

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 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:
RCV002612387.2

Allele description

NM_001101362.3(KBTBD13):c.292G>T (p.Glu98Ter)

Gene:
KBTBD13:kelch repeat and BTB domain containing 13 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_001101362.3(KBTBD13):c.292G>T (p.Glu98Ter)
HGVS:
  • NC_000015.10:g.65077107G>T
  • NG_021411.1:g.5292G>T
  • NM_001101362.3:c.292G>TMANE SELECT
  • NP_001094832.1:p.Glu98Ter
  • NP_001094832.1:p.Glu98Ter
  • LRG_682t1:c.292G>T
  • LRG_682:g.5292G>T
  • LRG_682p1:p.Glu98Ter
  • NC_000015.9:g.65369445G>T
  • NM_001101362.2:c.292G>T
Protein change:
E98*
Molecular consequence:
  • NM_001101362.3:c.292G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Nemaline myopathy 6 (NEM6)
Synonyms:
Nemaline myopathy 6, autosomal dominant
Identifiers:
MONDO: MONDO:0012237; MedGen: C1836472; Orphanet: 171439; OMIM: 609273

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003514005Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 11, 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 Invitae, SCV003514005.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with KBTBD13-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu98*) in the KBTBD13 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 361 amino acid(s) of the KBTBD13 protein.

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

Last Updated: Feb 14, 2024