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NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 26, 2018
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:
RCV002424907.2

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met)]

NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met)

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.217G>A (p.Val73Met)
HGVS:
  • NC_000016.10:g.2496365G>A
  • NG_028170.1:g.26220G>A
  • NM_001199107.2:c.217G>AMANE SELECT
  • NM_020705.3:c.217G>A
  • NP_001186036.1:p.Val73Met
  • NP_065756.1:p.Val73Met
  • NC_000016.9:g.2546366G>A
  • NM_001199107.1:c.217G>A
Protein change:
V73M
Links:
dbSNP: rs370078844
NCBI 1000 Genomes Browser:
rs370078844
Molecular consequence:
  • NM_001199107.2:c.217G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020705.3:c.217G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002730107Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 26, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The genetic basis of DOORS syndrome: an exome-sequencing study.

Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, et al.

Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29.

PubMed [citation]
PMID:
24291220
PMCID:
PMC3895324

Details of each submission

From Ambry Genetics, SCV002730107.2

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

Description

The p.V73M variant (also known as c.217G>A), located in coding exon 1 of the TBC1D24 gene, results from a G to A substitution at nucleotide position 217. The valine at codon 73 is replaced by methionine, an amino acid with highly similar properties. This variant was reported in an exome variant server sequencing project (Campeau PM et al. Lancet Neurol, 2014 Jan;13:44-58). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on available evidence to date, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2024