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NM_000138.5(FBN1):c.4297A>T (p.Met1433Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 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:
RCV003327574.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4297A>T (p.Met1433Leu)]

NM_000138.5(FBN1):c.4297A>T (p.Met1433Leu)

Genes:
LOC126862124:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 [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.4297A>T (p.Met1433Leu)
HGVS:
  • NC_000015.10:g.48472590T>A
  • NG_008805.2:g.178199A>T
  • NG_086622.1:g.322T>A
  • NM_000138.5:c.4297A>TMANE SELECT
  • NM_001406716.1:c.4297A>T
  • NP_000129.3:p.Met1433Leu
  • NP_000129.3:p.Met1433Leu
  • NP_001393645.1:p.Met1433Leu
  • LRG_778t1:c.4297A>T
  • LRG_778:g.178199A>T
  • LRG_778p1:p.Met1433Leu
  • NC_000015.9:g.48764787T>A
  • NM_000138.4:c.4297A>T
Protein change:
M1433L
Molecular consequence:
  • NM_000138.5:c.4297A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406716.1:c.4297A>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
SCV004034377GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 1, 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, SCV004034377.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Although located in a calcium-binding EGF-like domain of the FBN1 gene, it does not affect a cysteine residue within this domain; 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); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; 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: Sep 29, 2024