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NM_001101.5(ACTB):c.625G>A (p.Val209Met)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 14, 2018)
Last evaluated:
Jun 4, 2018
Accession:
VCV000127172.1
Variation ID:
127172
Description:
single nucleotide variant
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NM_001101.5(ACTB):c.625G>A (p.Val209Met)

Allele ID
132670
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p22.1
Genomic location
7: 5528458 (GRCh38) GRCh38 UCSC
7: 5568089 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.5568089C>T
NC_000007.14:g.5528458C>T
NM_001101.5:c.625G>A NP_001092.1:p.Val209Met missense
... more HGVS
Protein change
V209M
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA213195
dbSNP: rs587779777
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Jul 2, 2013 RCV000116222.4
Pathogenic 1 criteria provided, single submitter Jun 4, 2018 RCV000680682.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACTB No evidence available No evidence available GRCh38
GRCh37
156 203

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 02, 2013)
criteria provided, single submitter
Method: clinical testing
Baraitser-Winter syndrome 1
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000150134.1
Submitted: (Apr 30, 2014)
Evidence details
Pathogenic
(Jun 04, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000808126.1
Submitted: (Sep 14, 2018)
Evidence details
Comment:
The V209M variant in the ACTB gene has been reported previously as V209L, with the same nucleotide change, in an individual with BWCFF who developed ... (more)
Pathogenic
(Apr 15, 2014)
no assertion criteria provided
Method: clinical testing
Iris coloboma with ptosis, hypertelorism, and mental retardation
Allele origin: germline
Department of Genetics,Robert DEBRE University Hospital
Accession: SCV000148646.1
Submitted: (May 02, 2014)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Verloes A European journal of human genetics : EJHG 2015 PMID: 25052316

Record last updated Jan 26, 2020