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NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) AND Isolated thoracic aortic aneurysm

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 1, 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:
RCV001374767.8

Allele description [Variation Report for NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)]

NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)

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.2953G>A (p.Gly985Arg)
Other names:
p.G985R:GGG>AGG
HGVS:
  • NC_000015.10:g.48489980C>T
  • NG_008805.2:g.160809G>A
  • NM_000138.5:c.2953G>AMANE SELECT
  • NP_000129.3:p.Gly985Arg
  • NP_000129.3:p.Gly985Arg
  • LRG_778t1:c.2953G>A
  • LRG_778:g.160809G>A
  • LRG_778p1:p.Gly985Arg
  • NC_000015.9:g.48782177C>T
  • NM_000138.4:c.2953G>A
Protein change:
G985R
Links:
dbSNP: rs794728199
NCBI 1000 Genomes Browser:
rs794728199
Molecular consequence:
  • NM_000138.5:c.2953G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Isolated thoracic aortic aneurysm
Identifiers:

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001439548Department of Vascular Biology, Beijing Anzhen Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 1, 2018) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Department of Vascular Biology, Beijing Anzhen Hospital, SCV001439548.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024