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NM_001321120.2(TBX4):c.500_502del (p.Ser167del) AND Pulmonary hypertension, primary, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 1, 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:
RCV001829326.2

Allele description [Variation Report for NM_001321120.2(TBX4):c.500_502del (p.Ser167del)]

NM_001321120.2(TBX4):c.500_502del (p.Ser167del)

Gene:
TBX4:T-box transcription factor 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_001321120.2(TBX4):c.500_502del (p.Ser167del)
HGVS:
  • NC_000017.11:g.61467608_61467610del
  • NG_008080.1:g.16163_16165del
  • NM_001321120.2:c.500_502delMANE SELECT
  • NM_018488.3:c.500_502del
  • NP_001308049.1:p.Ser167del
  • NP_060958.2:p.Ser167del
  • LRG_1206t1:c.500_502del
  • LRG_1206:g.16163_16165del
  • LRG_1206p1:p.Ser167del
  • NC_000017.10:g.59544969_59544971del
Protein change:
S167del
Links:
dbSNP: rs2143825874
NCBI 1000 Genomes Browser:
rs2143825874
Molecular consequence:
  • NM_001321120.2:c.500_502del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_018488.3:c.500_502del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV002097145Wendy Chung Laboratory, Columbia University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 1, 2018) 		paternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Zhu N, Gonzaga-Jauregui C, Welch CL, Ma L, Qi H, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Nichols WC, Pauciulo MW, Lutz KA, Sawle A, Reid JG, Overton JD, Baras A, Dewey F, Shen Y, Chung WK.

Circ Genom Precis Med. 2018 Apr;11(4):e001887. doi: 10.1161/CIRCGEN.117.001887.

PubMed [citation]
PMID:
29631995
PMCID:
PMC5896781

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Wendy Chung Laboratory, Columbia University Medical Center, SCV002097145.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024