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NM_005359.6(SMAD4):c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG AND Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 11, 2024
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:
RCV004007889.2

Allele description [Variation Report for NM_005359.6(SMAD4):c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG]

NM_005359.6(SMAD4):c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG

Gene:
SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_005359.6(SMAD4):c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG
HGVS:
  • NC_000018.10:g.51076780_51076781insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG
  • NG_013013.2:g.113741_113742insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG
  • NM_001407041.1:c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG
  • NM_001407042.1:c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG
  • NM_005359.6:c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGMANE SELECT
  • LRG_318:g.113741_113742insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG
  • NC_000018.9:g.48603150_48603151insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG
Molecular consequence:
  • NM_001407041.1:c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407042.1:c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005359.6:c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG - intron variant - [Sequence Ontology: SO:0001627]
Observations:
6

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
SCV004823483All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Jan 11, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown6not providednot provided108544not 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 All of Us Research Program, National Institutes of Health, SCV004823483.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testing PubMed (1)

Description

This variant is an insertion of 37 nucleotides in the splice donor region in intron 11 of the SMAD4 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided6not providednot providednot provided

Last Updated: May 7, 2024