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NM_001199107.2(TBC1D24):c.702G>A (p.Val234=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 3, 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:
RCV002362993.3

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.702G>A (p.Val234=)]

NM_001199107.2(TBC1D24):c.702G>A (p.Val234=)

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.702G>A (p.Val234=)
Other names:
p.V234V:GTG>GTA
HGVS:
  • NC_000016.10:g.2496850G>A
  • NG_028170.1:g.26705G>A
  • NM_001199107.2:c.702G>AMANE SELECT
  • NM_020705.3:c.702G>A
  • NP_001186036.1:p.Val234=
  • NP_065756.1:p.Val234=
  • NC_000016.9:g.2546851G>A
  • NM_001199107.1:c.702G>A
  • NM_020705.2:c.702G>A
  • p.Val234Val
Links:
dbSNP: rs188739853
NCBI 1000 Genomes Browser:
rs188739853
Molecular consequence:
  • NM_001199107.2:c.702G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020705.3:c.702G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002662011Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 3, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002662011.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 10, 2024