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NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2017
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:
RCV000757270.9

Allele description [Variation Report for NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu)]

NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu)

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.2714G>A (p.Gly905Glu)
HGVS:
  • NC_000015.10:g.48494218C>T
  • NG_008805.2:g.156571G>A
  • NM_000138.5:c.2714G>AMANE SELECT
  • NP_000129.3:p.Gly905Glu
  • NP_000129.3:p.Gly905Glu
  • LRG_778t1:c.2714G>A
  • LRG_778:g.156571G>A
  • LRG_778p1:p.Gly905Glu
  • NC_000015.9:g.48786415C>T
  • NM_000138.4:c.2714G>A
Protein change:
G905E
Links:
dbSNP: rs1060501091
NCBI 1000 Genomes Browser:
rs1060501091
Molecular consequence:
  • NM_000138.5:c.2714G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000885425ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Dec 22, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885425.1

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

Description

The FBN1 p.Gly905Glu variant (rs1060501091) has not been reported in the medical literature, nor has it been previously identified in our laboratory; however, it is listed in the ClinVar database as a variant of uncertain significance (Variation ID: 406364). This variant is not observed in population genetic databases, including the Genome Aggregation Database. The guanine at codon 905 is highly conserved considering 12 species (Alamut software v.2.10.0), and computational analyses predict that this variant has an impact on the protein’s structure or function (SIFT: damaging, PolyPhen-2: probably damaging, Mutation Taster: disease causing). However, based on the available information, the clinical significance of the p.Gly905Glu variant cannot be determined with certainty.

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

Last Updated: Sep 29, 2024