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NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 1, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV004767058.1

Allele description [Variation Report for NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)]

NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)

Gene:
SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
Other names:
p.R496C:CGT>TGT
HGVS:
  • NC_000018.10:g.51078294C>T
  • NG_013013.2:g.115255C>T
  • NM_005359.6:c.1486C>TMANE SELECT
  • NP_005350.1:p.Arg496Cys
  • NP_005350.1:p.Arg496Cys
  • LRG_318t1:c.1486C>T
  • LRG_318:g.115255C>T
  • LRG_318p1:p.Arg496Cys
  • NC_000018.9:g.48604664C>T
  • NM_005359.5:c.1486C>T
Protein change:
R496C
Links:
dbSNP: rs397518413
NCBI 1000 Genomes Browser:
rs397518413
Molecular consequence:
  • NM_005359.6:c.1486C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT)
Synonyms:
JP/HHT SYNDROME; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008278; MedGen: C1832942; Orphanet: 2929; OMIM: 175050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005091325Solve-RD Consortium
no assertion criteria provided
Likely pathogenic
(Jun 1, 2022) 		inheritedprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From Solve-RD Consortium, SCV005091325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided

Description

Variant confirmed as disease-causing by referring clinical team

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

Last Updated: Nov 24, 2024