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NM_001110556.2(FLNA):c.3805+16G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Dec 11, 2020)
Last evaluated:
Feb 16, 2020
Accession:
VCV000213447.2
Variation ID:
213447
Description:
single nucleotide variant
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NM_001110556.2(FLNA):c.3805+16G>A

Allele ID
210490
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 154359974 (GRCh38) GRCh38 UCSC
X: 153588342 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1340:g.19665G>A
NC_000023.10:g.153588342C>T
NC_000023.11:g.154359974C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:154359973:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00083
Exome Aggregation Consortium (ExAC) 0.00050
The Genome Aggregation Database (gnomAD), exomes 0.00055
The Genome Aggregation Database (gnomAD) 0.00079
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00142
Links
ClinGen: CA325157
dbSNP: rs201016252
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Nov 5, 2014 RCV000200574.2
Likely benign 1 criteria provided, single submitter Nov 1, 2016 RCV000659665.1
Likely benign 1 criteria provided, single submitter Feb 16, 2020 RCV001287359.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLNA Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1477 1800

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 05, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000250338.11
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
Connective tissue disease
Allele origin: germline
Center for Human Genetics, Inc,Center for Human Genetics, Inc
Accession: SCV000781508.1
Submitted: (Dec 20, 2017)
Evidence details
Likely benign
(Feb 16, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001474035.1
Submitted: (Dec 11, 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.

Text-mined citations for rs201016252...

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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 Apr 08, 2021