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NM_001101.5(ACTB):c.1023C>T (p.Ile341=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 14, 2019)
Last evaluated:
Feb 19, 2019
Accession:
VCV000128263.2
Variation ID:
128263
Description:
single nucleotide variant
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NM_001101.5(ACTB):c.1023C>T (p.Ile341=)

Allele ID
133712
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p22.1
Genomic location
7: 5527853 (GRCh38) GRCh38 UCSC
7: 5567484 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_132:g.7749C>T
NC_000007.14:g.5527853G>A
NC_000007.13:g.5567484G>A
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.01278 (A)

Allele frequency
1000 Genomes Project 0.01278
Exome Aggregation Consortium (ExAC) 0.00360
The Genome Aggregation Database (gnomAD), exomes 0.00266
The Genome Aggregation Database (gnomAD) 0.01002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01307
Trans-Omics for Precision Medicine (TOPMed) 0.01173
Links
ClinGen: CA151574
dbSNP: rs58704474
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Nov 19, 2015 RCV000116224.5
Benign 1 criteria provided, single submitter Feb 19, 2019 RCV000527082.3
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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
Benign
(Nov 19, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000511960.4
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
(Feb 19, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000641797.3
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000150136.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Dec 15, 2019