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NM_001999.4(FBN2):c.3848-1G>A

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Interpretation:
Likely benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 6, 2020)
Last evaluated:
May 14, 2020
Accession:
VCV000984565.1
Variation ID:
984565
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.3848-1G>A

Allele ID
972644
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128335296 (GRCh38) GRCh38 UCSC
5: 127670988 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128335296C>T
NC_000005.9:g.127670988C>T
NM_001999.4:c.3848-1G>A MANE Select splice acceptor
NG_008750.1:g.207748G>A
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:128335295:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 no assertion criteria provided May 14, 2020 RCV001264655.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBN2 - - GRCh38
GRCh37
1735 1754

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 14, 2020)
no assertion criteria provided
Method: clinical testing
Neurodevelopmental abnormality
Allele origin: maternal
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
Accession: SCV001442918.1
Submitted: (Nov 06, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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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 Nov 12, 2020