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NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter) AND Pulmonary hypertension, primary, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 30, 2021
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:
RCV001535922.3

Allele description [Variation Report for NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter)]

NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter)

Gene:
SMAD9:SMAD family member 9 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q13.3
Genomic location:
Preferred name:
NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter)
HGVS:
  • NC_000013.11:g.36879304dup
  • NG_016963.1:g.45969dup
  • NM_001127217.3:c.386dupMANE SELECT
  • NM_001378621.1:c.386dup
  • NM_005905.6:c.386dup
  • NP_001120689.1:p.Tyr129Ter
  • NP_001365550.1:p.Tyr129Ter
  • NP_005896.1:p.Tyr129Ter
  • LRG_703t1:c.386dup
  • LRG_703:g.45969dup
  • NC_000013.10:g.37453441dup
  • NM_001127217.2:c.386dup
Protein change:
Y129*
Links:
dbSNP: rs2138492919
NCBI 1000 Genomes Browser:
rs2138492919
Molecular consequence:
  • NM_001127217.3:c.386dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378621.1:c.386dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005905.6:c.386dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Pulmonary hypertension, primary, 2
Identifiers:
MONDO: MONDO:0014134; MedGen: C3888002; Orphanet: 422; OMIM: 615342

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001752570Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 30, 2021) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

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 Fulgent Genetics, Fulgent Genetics, SCV001752570.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024