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NM_000138.5(FBN1):c.2854+16A>G AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 13, 2024
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:
RCV003994871.1

Allele description [Variation Report for NM_000138.5(FBN1):c.2854+16A>G]

NM_000138.5(FBN1):c.2854+16A>G

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.2854+16A>G
HGVS:
  • NC_000015.10:g.48492445T>C
  • NG_008805.2:g.158344A>G
  • NM_000138.5:c.2854+16A>GMANE SELECT
  • NM_001406716.1:c.2854+16A>G
  • LRG_778:g.158344A>G
  • NC_000015.9:g.48784642T>C
Molecular consequence:
  • NM_000138.5:c.2854+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406716.1:c.2854+16A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004813383Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Feb 13, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004813383.1

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

Last Updated: Apr 20, 2024