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NM_181486.4(TBX5):c.1115_1116dup (p.Ala373fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 13, 2018
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:
RCV001008261.1

Allele description [Variation Report for NM_181486.4(TBX5):c.1115_1116dup (p.Ala373fs)]

NM_181486.4(TBX5):c.1115_1116dup (p.Ala373fs)

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.1115_1116dup (p.Ala373fs)
HGVS:
  • NC_000012.12:g.114355973_114355974dup
  • NG_007373.1:g.57469_57470dup
  • NM_000192.3:c.1115_1116dup
  • NM_080717.4:c.965_966dup
  • NM_181486.4:c.1115_1116dupMANE SELECT
  • NP_000183.2:p.Ala373fs
  • NP_542448.1:p.Ala323fs
  • NP_852259.1:p.Ala373fs
  • LRG_670t1:c.1115_1116dup
  • LRG_670:g.57469_57470dup
  • LRG_670p1:p.Ala373fs
  • NC_000012.11:g.114793778_114793779dup
  • NM_000192.3:c.1115_1116dupCG
Protein change:
A323fs
Links:
dbSNP: rs1593836748
NCBI 1000 Genomes Browser:
rs1593836748
Molecular consequence:
  • NM_000192.3:c.1115_1116dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_080717.4:c.965_966dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181486.4:c.1115_1116dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001168027GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jul 13, 2018) 		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, SCV001168027.1

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

Description

The c.1115_1116dupCG pathogenic variant in the TBX5 gene causes a frameshift starting with codon Alanine 373, changes this amino acid to a Arginine residue and creates a premature Stop codon at position 22 of the new reading frame, denoted p.Ala373ArgfsX22. This pathogenic variant is predicted to cause loss of normal protein function through protein truncation, as the last 146 amino acids are replaced by 21 aberrant amino acids. The c.1115_1116dupCG variant has not been previously reported, to our knowledge, and is not observed in large population cohorts (Lek et al., 2016). In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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

Last Updated: Apr 23, 2022