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NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 11, 2023
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:
RCV003314695.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn)]

NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn)

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.4704A>T (p.Lys1568Asn)
HGVS:
  • NC_000015.10:g.48467981T>A
  • NG_008805.2:g.182808A>T
  • NM_000138.5:c.4704A>TMANE SELECT
  • NP_000129.3:p.Lys1568Asn
  • LRG_778t1:c.4704A>T
  • LRG_778:g.182808A>T
  • NC_000015.9:g.48760178T>A
  • NM_000138.4:c.4704A>T
Protein change:
K1568N
Links:
dbSNP: rs193922208
NCBI 1000 Genomes Browser:
rs193922208
Molecular consequence:
  • NM_000138.5:c.4704A>T - 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
SCV004014591GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 11, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV004014591.1

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Does not affect a cysteine residue within a calcium-binding EGF-like domain or a TGF-binding protein domain of the FBN1 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (Collod-Beroud et al., 2003); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 12938084)

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

Last Updated: Dec 24, 2023