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NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 6, 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:
RCV000589560.10

Allele description [Variation Report for NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)]

NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)

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.8363C>T (p.Thr2788Met)
Other names:
NM_000138.4(FBN1):c.8363C>T; p.Thr2788Met
HGVS:
  • NC_000015.10:g.48411243G>A
  • NG_008805.2:g.239546C>T
  • NM_000138.5:c.8363C>TMANE SELECT
  • NP_000129.3:p.Thr2788Met
  • NP_000129.3:p.Thr2788Met
  • LRG_778t1:c.8363C>T
  • LRG_778:g.239546C>T
  • LRG_778p1:p.Thr2788Met
  • NC_000015.9:g.48703440G>A
  • NM_000138.4:c.8363C>T
Protein change:
T2788M
Links:
dbSNP: rs143007898
NCBI 1000 Genomes Browser:
rs143007898
Molecular consequence:
  • NM_000138.5:c.8363C>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
SCV000695622Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(Jun 6, 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, SCV000695622.1

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

Description

Variant summary: The FBN1 c.8363C>T (p.Thr2788Met) variant alters a conserved nucleotide. The variant is located outside of any known functional domain or repeat, although 3/4 in silico tools (SNPs&GO not captured here due to low reliability) predict a damaging outcome for this variant. The variant of interest has been identified in a large, broad control datasets of ExAC and gnomAD at a similar frequencies of 0.0001071 (13/121406 chrs and 26/277156 chrs tested, respectively). In both datasets, the variant was identified exclusively in individuals of African ancestry (0.001249; 13/10406 chrs tested and 0.0009987; 24/24032). The observed frequencies exceed the estimated maximal expected allele frequency of a pathogenic FBN1 variant (0.0001), suggesting that the variant represents a rare ethnic-specific functional polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, but is sited as Likely Benign by clinical diagnostic laboratories/reputable databases. Taken together, this variant is classified as a Benign.

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

Last Updated: Oct 26, 2024