NM_181486.4(TBX5):c.202del (p.His68fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 25, 2016
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:: RCV000413997.1

Allele description [Variation Report for NM_181486.4(TBX5):c.202del (p.His68fs)]

NM_181486.4(TBX5):c.202del (p.His68fs)

Gene:

TBX5:T-box transcription factor 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q24.21

Genomic location:

Preferred name:

NM_181486.4(TBX5):c.202del (p.His68fs)

HGVS:

NC_000012.12:g.114401867del
NG_007373.1:g.11577del
NM_000192.3:c.202del
NM_080717.4:c.52del
NM_181486.4:c.202delMANE SELECT
NP_000183.2:p.His68fs
NP_542448.1:p.His18fs
NP_852259.1:p.His68fs
LRG_670t1:c.202del
LRG_670:g.11577del
LRG_670p1:p.His68fs
NC_000012.11:g.114839672del
NM_000192.3:c.202delC

Protein change:

H18fs

Links:

dbSNP: rs1057518199

NCBI 1000 Genomes Browser:

rs1057518199

Molecular consequence:

NM_000192.3:c.202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_080717.4:c.52del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181486.4:c.202del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000491642	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Oct 25, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000491642

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Oct 25, 2016)

germline

clinical testing

Citation Link

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 GeneDx, SCV000491642.2

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

Description

The c.202delC variant in the TBX5 gene causes a frameshift starting with codon Histidine 68, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 7 of the new reading frame, denoted p.His68ThrfsX7. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

#	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: Apr 23, 2022

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