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NM_001204.7(BMPR2):c.179G>T (p.Cys60Phe) AND Pulmonary hypertension, primary, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2019
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:
RCV001035315.2

Allele description [Variation Report for NM_001204.7(BMPR2):c.179G>T (p.Cys60Phe)]

NM_001204.7(BMPR2):c.179G>T (p.Cys60Phe)

Gene:
BMPR2:bone morphogenetic protein receptor type 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q33.1
Genomic location:
Preferred name:
NM_001204.7(BMPR2):c.179G>T (p.Cys60Phe)
HGVS:
  • NC_000002.12:g.202464911G>T
  • NG_009363.1:g.93585G>T
  • NM_001204.7:c.179G>TMANE SELECT
  • NP_001195.2:p.Cys60Phe
  • LRG_712t1:c.179G>T
  • LRG_712:g.93585G>T
  • NC_000002.11:g.203329634G>T
  • NM_001204.6:c.179G>T
Protein change:
C60F
Links:
dbSNP: rs1085307172
NCBI 1000 Genomes Browser:
rs1085307172
Molecular consequence:
  • NM_001204.7:c.179G>T - 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
SCV001198639Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 11, 2019) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.

Liu D, Liu QQ, Eyries M, Wu WH, Yuan P, Zhang R, Soubrier F, Jing ZC.

Eur Respir J. 2012 Mar;39(3):597-603. doi: 10.1183/09031936.00072911. Epub 2011 Jul 7.

PubMed [citation]
PMID:
21737554

Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.

Yang H, Zeng Q, Ma Y, Liu B, Chen Q, Li W, Xiong C, Zhou Z.

Respir Res. 2018 May 9;19(1):87. doi: 10.1186/s12931-018-0789-9.

PubMed [citation]
PMID:
29743074
PMCID:
PMC5944100
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001198639.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change replaces cysteine with phenylalanine at codon 60 of the BMPR2 protein (p.Cys60Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BMPR2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Cys60 amino acid residue in BMPR2. Other variant(s) that disrupt this residue have been observed in individuals with BMPR2-related conditions (PMID: 29743074, 11015450, 21737554, 26387786), which suggests that this may be a clinically significant amino acid residue. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024