U.S. flag

An official website of the United States government

NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 10, 2013
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:
RCV000197656.1

Allele description [Variation Report for NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)]

NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)

Gene:
FBN2:fibrillin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.3
Genomic location:
Preferred name:
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)
HGVS:
  • NC_000005.10:g.128259493C>T
  • NG_008750.1:g.283551G>A
  • NM_001999.4:c.8701G>AMANE SELECT
  • NP_001990.2:p.Glu2901Lys
  • NC_000005.9:g.127595185C>T
  • NM_001999.3:c.8701G>A
  • p.E2901K
Protein change:
E2901K
Links:
dbSNP: rs781069799
NCBI 1000 Genomes Browser:
rs781069799
Molecular consequence:
  • NM_001999.4:c.8701G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000250262GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 10, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000250262.11

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

Description

p.Glu2901Lys (GAG>AAG): c.8701 G>A in exon 65 of the FBN2 gene (NM_001999.3) The Glu2901Lys variant in the FBN2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Glu2901Lys results in a non-conservative amino acid substitution of a negatively charged Glutamic acid with a positively charged Lysine at a position that is conserved in mammals. Nevertheless, no mutations in nearby residues have been reported in association with contractural arachnodactyly. Data from control individuals were not available to assess whether Glu2901Lys may be a common benign variant in the general population. With the clinical and molecular information available at this time, we cannot definitively determine if Glu2901Lys is a disease-causing mutation or a rare benign variant. This variant was found in TAAD

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

Last Updated: May 7, 2024