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NM_000138.5(FBN1):c.3082+8del AND not provided

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001579674.1

Allele description [Variation Report for NM_000138.5(FBN1):c.3082+8del]

NM_000138.5(FBN1):c.3082+8del

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.3082+8del
HGVS:
  • NC_000015.10:g.48489843del
  • NG_008805.2:g.160946del
  • NM_000138.5:c.3082+8delMANE SELECT
  • LRG_778t1:c.3082+8del
  • LRG_778:g.160946del
  • NC_000015.9:g.48782040del
  • NC_000015.9:g.48782040delC
  • NM_000138.4:c.3082+8del
  • NM_000138.4:c.3082+8delG
  • c.3082+8delG
Links:
dbSNP: rs193922196
NCBI 1000 Genomes Browser:
rs193922196
Molecular consequence:
  • NM_000138.5:c.3082+8del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001808109Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001808109.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024