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NM_001999.4(FBN2):c.7740G>A (p.Ser2580=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 6, 2018
Accession:
VCV000700830.2
Variation ID:
700830
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.7740G>A (p.Ser2580=)

Allele ID
686591
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128273940 (GRCh38) GRCh38 UCSC
5: 127609632 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.127609632C>T
NC_000005.10:g.128273940C>T
NM_001999.4:c.7740G>A MANE Select NP_001990.2:p.Ser2580= synonymous
NG_008750.1:g.269104G>A
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:128273939:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs942206547
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 criteria provided, single submitter Apr 6, 2018 RCV000869157.1
Likely benign 1 criteria provided, single submitter Apr 6, 2018 RCV001482268.1
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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
(Apr 06, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001010561.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Apr 06, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV001686631.1
Submitted: (Jan 07, 2021)
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.

Text-mined citations for rs942206547...

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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 Jun 14, 2021