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NM_001999.4(FBN2):c.209T>C (p.Val70Ala)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 31, 2021)
Last evaluated:
Apr 2, 2021
Accession:
VCV000618125.5
Variation ID:
618125
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.209T>C (p.Val70Ala)

Allele ID
609576
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128537395 (GRCh38) GRCh38 UCSC
5: 127873088 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128537395A>G
NC_000005.9:g.127873088A>G
NG_008750.1:g.5648T>C
NM_001999.4:c.209T>C MANE Select NP_001990.2:p.Val70Ala missense
Protein change
V70A
Other names
-
Canonical SPDI
NC_000005.10:128537394:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00012
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00039
The Genome Aggregation Database (gnomAD), exomes 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00030
The Genome Aggregation Database (gnomAD) 0.00038
Links
dbSNP: rs144149249
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 2, 2021 RCV000756150.4
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV001404545.1
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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
(Dec 22, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000883874.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The c.209T>C variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. It … (more)
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV001606447.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 02, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001810776.1
Submitted: (Aug 31, 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 rs144149249...

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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 Oct 08, 2021