U.S. flag

An official website of the United States government

NM_000138.5(FBN1):c.2050_2054dup (p.Ala686fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 31, 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:
RCV000479958.1

Allele description [Variation Report for NM_000138.5(FBN1):c.2050_2054dup (p.Ala686fs)]

NM_000138.5(FBN1):c.2050_2054dup (p.Ala686fs)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.2050_2054dup (p.Ala686fs)
HGVS:
  • NC_000015.10:g.48503846_48503850dup
  • NG_008805.2:g.146939_146943dup
  • NM_000138.5:c.2050_2054dupMANE SELECT
  • NP_000129.3:p.Ala686fs
  • LRG_778:g.146939_146943dup
  • NC_000015.9:g.48796043_48796047dup
  • NM_000138.4:c.2050_2054dupTGTTG
Protein change:
A686fs
Links:
dbSNP: rs1555399762
NCBI 1000 Genomes Browser:
rs1555399762
Molecular consequence:
  • NM_000138.5:c.2050_2054dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000572918GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Jan 31, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000572918.4

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

Description

Although the c.2050_2054dupTGTTG pathogenic variant in the FBN1 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon alanine 686, changing it to a valine, and creating a premature stop codon at position 34 of the new reading frame, denoted p.Ala686ValfsX34. This pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the FBN1 gene have been reported in Human Gene Mutation Database in association with FBN1-related disorders (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.2050_2054dupTGTTG variant has not been observed in large population cohorts (Lek et al., 2016; Exome Variant Server).

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

Last Updated: Nov 5, 2022