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NM_001199107.2(TBC1D24):c.20A>G (p.Asn7Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 18, 2014
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:
RCV000189678.1

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.20A>G (p.Asn7Ser)]

NM_001199107.2(TBC1D24):c.20A>G (p.Asn7Ser)

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.20A>G (p.Asn7Ser)
Other names:
p.N7S:AAC>AGC
HGVS:
  • NC_000016.10:g.2496168A>G
  • NG_028170.1:g.26023A>G
  • NM_001199107.2:c.20A>GMANE SELECT
  • NM_020705.3:c.20A>G
  • NP_001186036.1:p.Asn7Ser
  • NP_065756.1:p.Asn7Ser
  • NC_000016.9:g.2546169A>G
  • NM_001199107.1:c.20A>G
Protein change:
N7S
Links:
dbSNP: rs765897138
NCBI 1000 Genomes Browser:
rs765897138
Molecular consequence:
  • NM_001199107.2:c.20A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020705.3:c.20A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000243324GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 18, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000243324.11

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

Description

p.Asn7Ser (AAC>AGC): c.20 A>G in exon 2 of the TBC1D24 gene (NM_001199107.1). A variant of unknown significance has been identified in the TBC1D24 gene. The N7S variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The N7S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved in mammals and in silico analysis predicts the N7S variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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

Last Updated: Apr 23, 2022