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NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser) AND Pulmonary hypertension, primary, 1

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001829368.2

Allele description [Variation Report for NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser)]

NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser)

Gene:
TBX4:T-box transcription factor 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser)
HGVS:
  • NC_000017.11:g.61483023A>C
  • NG_008080.1:g.31578A>C
  • NM_001321120.2:c.1148A>CMANE SELECT
  • NM_018488.3:c.1145A>C
  • NP_001308049.1:p.Tyr383Ser
  • NP_060958.2:p.Tyr382Ser
  • LRG_1206t1:c.1148A>C
  • LRG_1206:g.31578A>C
  • LRG_1206p1:p.Tyr383Ser
  • NC_000017.10:g.59560384A>C
  • NM_018488.2:c.1145A>C
Protein change:
Y382S
Links:
dbSNP: rs536406541
NCBI 1000 Genomes Browser:
rs536406541
Molecular consequence:
  • NM_001321120.2:c.1148A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018488.3:c.1145A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pulmonary hypertension, primary, 1 (PPH1)
Identifiers:
MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002097199Wendy Chung Laboratory, Columbia University Medical Center
no classification provided
not providedunknown, germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedliterature only
not providedgermlineyes2not providednot provided2not providedliterature only

Citations

PubMed

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.

Kerstjens-Frederikse WS, Bongers EM, Roofthooft MT, Leter EM, Douwes JM, Van Dijk A, Vonk-Noordegraaf A, Dijk-Bos KK, Hoefsloot LH, Hoendermis ES, Gille JJ, Sikkema-Raddatz B, Hofstra RM, Berger RM.

J Med Genet. 2013 Aug;50(8):500-6. doi: 10.1136/jmedgenet-2012-101152. Epub 2013 Apr 16.

PubMed [citation]
PMID:
23592887
PMCID:
PMC3717587

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, Hodgson J, Liu B, Salmon RM, Southwood M, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Aldred M, Bogaard HJ, Church C, Coghlan G, et al.

Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4.

PubMed [citation]
PMID:
29650961
PMCID:
PMC5897357

Details of each submission

From Wendy Chung Laboratory, Columbia University Medical Center, SCV002097199.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
2not provided1not providednot providedliterature only PubMed (2)
3not provided1not providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided
3germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024