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NM_000138.5(FBN1):c.8507T>A (p.Leu2836His) AND Marfan syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2020
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:
RCV001374598.1

Allele description [Variation Report for NM_000138.5(FBN1):c.8507T>A (p.Leu2836His)]

NM_000138.5(FBN1):c.8507T>A (p.Leu2836His)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.8507T>A (p.Leu2836His)
HGVS:
  • NC_000015.10:g.48411099A>T
  • NG_008805.2:g.239690T>A
  • NM_000138.5:c.8507T>AMANE SELECT
  • NP_000129.3:p.Leu2836His
  • LRG_778t1:c.8507T>A
  • LRG_778:g.239690T>A
  • NC_000015.9:g.48703296A>T
  • NM_000138.4:c.8507T>A
Protein change:
L2836H
Links:
dbSNP: rs2141209638
NCBI 1000 Genomes Browser:
rs2141209638
Molecular consequence:
  • NM_000138.5:c.8507T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Marfan syndrome (MFS)
Synonyms:
MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001571442UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2020) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedresearch

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 UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES, SCV001571442.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

The FBN1 c.8507T>A (p.Leu2836His) variant is not present in the gnomAD human population database, nor has it been previously reported in association with Marfan syndrome. Conservation and computational prediction tools predict a damaging effect on protein function. This variant is thus considered a variant of uncertain clinical significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023