NM_006521.6(TFE3):c.26G>C (p.Arg9Pro) AND not provided

Germline classification:: Likely benign (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001573337.1

Allele description [Variation Report for NM_006521.6(TFE3):c.26G>C (p.Arg9Pro)]

NM_006521.6(TFE3):c.26G>C (p.Arg9Pro)

Gene:

TFE3:transcription factor binding to IGHM enhancer 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

NM_006521.6(TFE3):c.26G>C (p.Arg9Pro)

HGVS:

NC_000023.11:g.49043201C>G
NG_016297.2:g.5260G>C
NM_001282142.2:c.-225G>C
NM_006521.6:c.26G>CMANE SELECT
NP_006512.2:p.Arg9Pro
NC_000023.10:g.48900727C>G

Protein change:

R9P

Links:

dbSNP: rs782109836

NCBI 1000 Genomes Browser:

rs782109836

Molecular consequence:

NM_001282142.2:c.-225G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_006521.6:c.26G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001799055	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001799055

Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

no assertion criteria provided

Likely benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001799055.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

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