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NM_005359.6(SMAD4):c.1541C>T (p.Pro514Leu) AND Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 28, 2023
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:
RCV004010036.2

Allele description [Variation Report for NM_005359.6(SMAD4):c.1541C>T (p.Pro514Leu)]

NM_005359.6(SMAD4):c.1541C>T (p.Pro514Leu)

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.1541C>T (p.Pro514Leu)
HGVS:
  • NC_000018.10:g.51078349C>T
  • NG_013013.2:g.115310C>T
  • NM_001407041.1:c.1541C>T
  • NM_001407042.1:c.1541C>T
  • NM_005359.6:c.1541C>TMANE SELECT
  • NP_001393970.1:p.Pro514Leu
  • NP_001393971.1:p.Pro514Leu
  • NP_005350.1:p.Pro514Leu
  • NP_005350.1:p.Pro514Leu
  • LRG_318t1:c.1541C>T
  • LRG_318:g.115310C>T
  • LRG_318p1:p.Pro514Leu
  • NC_000018.9:g.48604719C>T
  • NM_005359.5:c.1541C>T
  • NR_176265.1:n.2192C>T
Protein change:
P514L
Molecular consequence:
  • NM_001407041.1:c.1541C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407042.1:c.1541C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005359.6:c.1541C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176265.1:n.2192C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV004821058All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Mar 28, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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, SCV004821058.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: May 7, 2024