NM_181486.4(TBX5):c.611dup (p.His204fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 5, 2015
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:
RCV000197595.1

Allele description [Variation Report for NM_181486.4(TBX5):c.611dup (p.His204fs)]

NM_181486.4(TBX5):c.611dup (p.His204fs)

Gene:
TBX5:T-box transcription factor 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_181486.4(TBX5):c.611dup (p.His204fs)
HGVS:
  • NC_000012.12:g.114394793dup
  • NG_007373.1:g.18650dup
  • NM_000192.3:c.611dup
  • NM_080717.4:c.461dup
  • NM_181486.4:c.611dupMANE SELECT
  • NP_000183.2:p.His204fs
  • NP_542448.1:p.His154fs
  • NP_852259.1:p.His204fs
  • LRG_670t1:c.611dup
  • LRG_670:g.18650dup
  • LRG_670p1:p.His204fs
  • NC_000012.11:g.114832597_114832598insT
  • NC_000012.11:g.114832598dup
  • NM_000192.3:c.611dupA
  • p.H204QfsX5
Protein change:
H154fs
Links:
dbSNP: rs863223786
NCBI 1000 Genomes Browser:
rs863223786
Molecular consequence:
  • NM_000192.3:c.611dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_080717.4:c.461dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181486.4:c.611dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000250828GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jun 5, 2015) 		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, SCV000250828.9

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

Description

The c.611dupA mutation in the TBX5 gene causes a frameshift starting with codon Histidine 204, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.His204GlnfsX5. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.611dupA mutation was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Frameshifts starting with upstream and downstream residues (c.593dupA, c.641_642delTG) have been reported in association with Holt-Oram syndrome. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of Holt-Oram syndrome. This variant was found in TBX5

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

Last Updated: Feb 20, 2024