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NM_032447.5(FBN3):c.6604G>A (p.Gly2202Arg) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 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:
RCV000512731.19

Allele description [Variation Report for NM_032447.5(FBN3):c.6604G>A (p.Gly2202Arg)]

NM_032447.5(FBN3):c.6604G>A (p.Gly2202Arg)

Gene:
FBN3:fibrillin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_032447.5(FBN3):c.6604G>A (p.Gly2202Arg)
HGVS:
  • NC_000019.10:g.8087840C>T
  • NM_001321431.1:c.6604G>A
  • NM_001321431.2:c.6604G>A
  • NM_032447.5:c.6604G>AMANE SELECT
  • NP_001308360.1:p.Gly2202Arg
  • NP_115823.3:p.Gly2202Arg
  • NC_000019.9:g.8152724C>T
Protein change:
G2202R
Links:
dbSNP: rs138457751
NCBI 1000 Genomes Browser:
rs138457751
Molecular consequence:
  • NM_001321431.2:c.6604G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032447.5:c.6604G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

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
SCV000608872CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Mar 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes5not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000608872.27

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided

Description

FBN3: BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided5not providednot providednot provided

Last Updated: Jun 17, 2024