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NM_005359.6(SMAD4):c.1308+2T>C AND Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 5, 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:
RCV000662093.4

Allele description [Variation Report for NM_005359.6(SMAD4):c.1308+2T>C]

NM_005359.6(SMAD4):c.1308+2T>C

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.1308+2T>C
HGVS:
  • NC_000018.10:g.51067189T>C
  • NG_013013.2:g.104150T>C
  • NM_001407041.1:c.1308+2T>C
  • NM_001407042.1:c.1308+2T>C
  • NM_005359.6:c.1308+2T>CMANE SELECT
  • LRG_318t1:c.1308+2T>C
  • LRG_318:g.104150T>C
  • NC_000018.9:g.48593559T>C
  • NM_005359.5:c.1308+2T>C
Links:
dbSNP: rs1555686624
NCBI 1000 Genomes Browser:
rs1555686624
Molecular consequence:
  • NM_001407041.1:c.1308+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407042.1:c.1308+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_005359.6:c.1308+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

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
SCV000784432Genomic Research Center, Shahid Beheshti University of Medical Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 5, 2018) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not 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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000784432.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 10, 2023