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NM_000138.5(FBN1):c.6732G>T (p.Met2244Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 26, 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:
RCV000588140.1

Allele description [Variation Report for NM_000138.5(FBN1):c.6732G>T (p.Met2244Ile)]

NM_000138.5(FBN1):c.6732G>T (p.Met2244Ile)

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.6732G>T (p.Met2244Ile)
HGVS:
  • NC_000015.10:g.48432873C>A
  • NG_008805.2:g.217916G>T
  • NM_000138.5:c.6732G>TMANE SELECT
  • NP_000129.3:p.Met2244Ile
  • NP_000129.3:p.Met2244Ile
  • LRG_778t1:c.6732G>T
  • LRG_778:g.217916G>T
  • LRG_778p1:p.Met2244Ile
  • NC_000015.9:g.48725070C>A
  • NM_000138.4:c.6732G>T
Protein change:
M2244I
Links:
dbSNP: rs780960909
NCBI 1000 Genomes Browser:
rs780960909
Molecular consequence:
  • NM_000138.5:c.6732G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000695587Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 26, 2017) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000695587.1

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

Description

Variant summary: The FBN1 c.6732G>T (p.Met2244Ile) variant located in Ca2+-binding EGF-like #34 domain involves the alteration of a conserved nucleotide and is predicted to be damaging by 2/4 in silico tools (SNPsandGO not captured due to low reliability index). However, these predictions have yet to be functionally assessed. This variant is absent in 121326 control chromosomes from ExAC. To our knowledge, this variant has not been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor has it been evaluated for functional impact by in vivo/vitro studies. Because of the lack of the available clinical and functional studies, this variant has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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

Last Updated: Feb 20, 2024