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
Identifiers:: MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002097199	Wendy Chung Laboratory, Columbia University Medical Center	no classification provided	not provided	unknown, germline	literature only	PubMed (2) [See all records that cite these PMIDs] 23592887, 29650961

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002097199

Wendy Chung Laboratory, Columbia University Medical Center

no classification provided

not provided

unknown, germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	2	not provided	not provided	2	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)
2	not provided	1	not provided	not provided	literature only	PubMed (2)
3	not provided	1	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided
2	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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