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NM_181486.4(TBX5):c.868C>T (p.Gln290Ter) AND Holt-Oram syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 14, 2018
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:
RCV000782303.2

Allele description [Variation Report for NM_181486.4(TBX5):c.868C>T (p.Gln290Ter)]

NM_181486.4(TBX5):c.868C>T (p.Gln290Ter)

Gene:
TBX5:T-box transcription factor 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter)
HGVS:
  • NC_000012.12:g.114366279G>A
  • NG_007373.1:g.47164C>T
  • NM_000192.3:c.868C>T
  • NM_080717.4:c.718C>T
  • NM_181486.4:c.868C>TMANE SELECT
  • NP_000183.2:p.Gln290Ter
  • NP_542448.1:p.Gln240Ter
  • NP_852259.1:p.Gln290Ter
  • LRG_670t1:c.868C>T
  • LRG_670:g.47164C>T
  • LRG_670p1:p.Gln290Ter
  • NC_000012.11:g.114804084G>A
Protein change:
Q240*
Links:
dbSNP: rs1565927747
NCBI 1000 Genomes Browser:
rs1565927747
Molecular consequence:
  • NM_000192.3:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_080717.4:c.718C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181486.4:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Holt-Oram syndrome (HOS)
Synonyms:
Ventriculo-radial syndrome; Atrio digital syndrome; Cardiac-limb syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007732; MedGen: C0265264; Orphanet: 392; OMIM: 142900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000920822Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
no assertion criteria provided
Pathogenic
(Jun 14, 2018) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV000920822.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024