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NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 9, 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:
RCV000995333.10

Allele description [Variation Report for NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)]

NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)

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.7241G>A (p.Arg2414Gln)
HGVS:
  • NC_000015.10:g.48425828C>T
  • NG_008805.2:g.224961G>A
  • NM_000138.5:c.7241G>AMANE SELECT
  • NP_000129.3:p.Arg2414Gln
  • NP_000129.3:p.Arg2414Gln
  • LRG_778t1:c.7241G>A
  • LRG_778:g.224961G>A
  • LRG_778p1:p.Arg2414Gln
  • NC_000015.9:g.48718025C>T
  • NM_000138.4:c.7241G>A
Protein change:
R2414Q
Links:
dbSNP: rs143863014
NCBI 1000 Genomes Browser:
rs143863014
Molecular consequence:
  • NM_000138.5:c.7241G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001823126GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Oct 9, 2023)
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, SCV001823126.2

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

Description

Reported in individuals with suspected TAAD or Marfan syndrome who did not meet Ghent criteria (Sakai et al., 2006; Overwater et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; 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); This variant is associated with the following publications: (PMID: 22913777, 27647783, 24941995, 25812041, 25637381, 16835936, 29907982, 12938084)

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

Last Updated: Sep 29, 2024