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NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 8, 2017
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:
RCV000728495.4

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter)]

NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter)

Gene:
TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter)
HGVS:
  • NC_000016.10:g.2496279G>A
  • NG_028170.1:g.26134G>A
  • NM_001199107.2:c.131G>AMANE SELECT
  • NM_020705.3:c.131G>A
  • NP_001186036.1:p.Trp44Ter
  • NP_065756.1:p.Trp44Ter
  • NC_000016.9:g.2546280G>A
Protein change:
W44*
Links:
dbSNP: rs1567411053
NCBI 1000 Genomes Browser:
rs1567411053
Molecular consequence:
  • NM_001199107.2:c.131G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020705.3:c.131G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000856075Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Pathogenic
(Aug 8, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000856075.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024