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NM_000138.4(FBN1):c.7331-1G>C

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 25, 2018)
Last evaluated:
Nov 7, 2017
Accession:
VCV000549402.1
Variation ID:
549402
Description:
single nucleotide variant
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NM_000138.4(FBN1):c.7331-1G>C

Allele ID
539542
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48425492 (GRCh38) GRCh38 UCSC
15: 48717689 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_778t1:c.7331-1G>C
NC_000015.10:g.48425492C>G
NC_000015.9:g.48717689C>G
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555394412
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Nov 7, 2017 RCV000663946.1
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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
(Nov 07, 2017)
no assertion criteria provided
Method: clinical testing
Marfan syndrome
Allele origin: germline
Center for Medical Genetics Ghent,University of Ghent
Accession: SCV000787321.1
Submitted: (Apr 25, 2018)
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 Dec 17, 2019