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NM_001159699.2(FHL1):c.204+5C>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000239005.13
Variation ID:
239005
Description:
single nucleotide variant
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NM_001159699.2(FHL1):c.204+5C>T

Allele ID
243755
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq26.3
Genomic location
X: 136206593 (GRCh38) GRCh38 UCSC
X: 135288752 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.135288752C>T
LRG_739t1:c.204+5C>T
LRG_739t2:c.156+5C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:136206592:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00397 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00188
The Genome Aggregation Database (gnomAD) 0.00515
The Genome Aggregation Database (gnomAD), exomes 0.00150
The Genome Aggregation Database (gnomAD) 0.00542
1000 Genomes Project 0.00397
Trans-Omics for Precision Medicine (TOPMed) 0.00542
Trans-Omics for Precision Medicine (TOPMed) 0.00545
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00663
Links
ClinGen: CA10524957
dbSNP: rs182106777
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 6 criteria provided, multiple submitters, no conflicts Jul 27, 2016 RCV000429398.8
Benign 2 criteria provided, single submitter May 3, 2019 RCV000231045.8
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV001082220.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FHL1 - - GRCh38
GRCh37
260 436

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000594777.1
Submitted: (Jul 05, 2017)
Evidence details
Benign
(Jul 27, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000525206.4
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)
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Myopathy with postural muscle atrophy, X-linked
Allele origin: germline
Invitae
Accession: SCV000287126.7
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 03, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143920.1
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (1)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001799465.1
Submitted: (Aug 19, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001742720.3
Submitted: (Sep 02, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001925776.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001952778.1
Submitted: (Sep 30, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001964455.1
Submitted: (Sep 21, 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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Title Author Journal Year Link
Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans. Ntusi NA Cardiovascular journal of Africa 2016 PMID: 27841901

Text-mined citations for rs182106777...

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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 Nov 27, 2021