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NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 11, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000498808.23

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu)]

NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu)

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.1367C>T (p.Pro456Leu)
HGVS:
  • NC_000016.10:g.2500332C>T
  • NG_028170.1:g.30187C>T
  • NM_001199107.2:c.1367C>TMANE SELECT
  • NM_020705.3:c.1349C>T
  • NP_001186036.1:p.Pro456Leu
  • NP_065756.1:p.Pro450Leu
  • NC_000016.9:g.2550333C>T
  • NM_001199107.1:c.1367C>T
  • NM_020705.2:c.1349C>T
Protein change:
P450L
Links:
dbSNP: rs200641000
NCBI 1000 Genomes Browser:
rs200641000
Molecular consequence:
  • NM_001199107.2:c.1367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020705.3:c.1349C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000589365GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 11, 2024) 		germlineclinical testing

Citation Link,

SCV001335037CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Jan 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000589365.4

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24291220)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001335037.23

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

TBC1D24: PM2, BP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Sep 16, 2024