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NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 27, 2015
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:
RCV000181473.2

Allele description

NM_000138.4(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_000138.4(FBN1):c.2953G>A (p.Gly985Arg)
HGVS:
  • NC_000015.10:g.48489980C>T
  • NG_008805.2:g.160809G>A
  • NM_000138.4:c.2953G>A
  • 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
  • p.G985R:GGG>AGG
Protein change:
G985R
Links:
dbSNP: rs794728199
NCBI 1000 Genomes Browser:
rs794728199
Molecular consequence:
  • NM_000138.4:c.2953G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000233775GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 27, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000233775.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Gly985Arg (GGG>AGG): c.2953 G>A in exon 25 of the FBN1 gene (NM_000138.4)The G985R mutation in the FBN1 gene has been reported in two unrelated individuals diagnosed with classic Marfan syndrome (Loeys B et al., 2001; Rommel K et al., 2005). These studies did not identify G985R in more than 50 control individuals. Additionally, the NHLBI Exome Sequencing Project reports G985R was not observed in approximately 6,500 individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Other pathogenic mutations altering the same residue (G985E) or neighboring residues (C980S, C980Y, C981S, V984D) have been reported in association with Marfan syndrome or ectopia lentis, further supporting the functional importance of this residue and region of the protein . In summary, G985R in the FBN1 gene is interpreted as a disease-causing mutation. The variant is found in TAAD panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 6, 2016