Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001999.4(FBN2):c.2095+7_2095+20del

Help
Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2019)
Last evaluated:
Sep 11, 2018
Accession:
VCV000751618.1
Variation ID:
751618
Description:
14bp deletion
Help

NM_001999.4(FBN2):c.2095+7_2095+20del

Allele ID
774976
Variant type
Deletion
Variant length
14 bp
Cytogenetic location
5q23.3
Genomic location
5: 128374608-128374621 (GRCh38) GRCh38 UCSC
5: 127710301-127710314 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128374608_128374621del
NC_000005.9:g.127710301_127710314del
NM_001999.4:c.2095+7_2095+20del MANE Select
NG_008750.1:g.168422_168435del
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:128374607:TTATAAAATGTTTC:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs1178750566
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 11, 2018 RCV000928703.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 11, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001074318.1
Submitted: (Mar 14, 2019)
Evidence details

Functional evidence

Help
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

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

Text-mined citations for rs1178750566...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 27, 2020