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NM_000138.4(FBN1):c.6289G>T (p.Glu2097Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
May 12, 2009
Accession:
VCV000042398.1
Variation ID:
42398
Description:
single nucleotide variant
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NM_000138.4(FBN1):c.6289G>T (p.Glu2097Ter)

Allele ID
51568
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48437792 (GRCh38) GRCh38 UCSC
15: 48729989 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.9:g.48729989C>A
NC_000015.10:g.48437792C>A
NM_000138.4:c.6289G>T NP_000129.3:p.Glu2097Ter nonsense
... more HGVS
Protein change
E2097*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA016326
dbSNP: rs397515831
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 12, 2009 RCV000035240.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBN1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
3250 3315

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 12, 2009)
criteria provided, single submitter
Method: clinical testing
Marfan syndrome
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000058885.5
Submitted: (Mar 21, 2019)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 18, 2020