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NM_005159.5(ACTC1):c.513C>T (p.Tyr171=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 21, 2019)
Last evaluated:
Feb 21, 2019
Accession:
VCV000045181.2
Variation ID:
45181
Description:
single nucleotide variant
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NM_005159.5(ACTC1):c.513C>T (p.Tyr171=)

Allele ID
54348
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 34792511 (GRCh38) GRCh38 UCSC
15: 35084712 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.34792511G>A
NC_000015.9:g.35084712G>A
LRG_388t1:c.513C>T
... more HGVS
Protein change
-
Other names
p.Y171Y:TAC>TAT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00032
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Exome Aggregation Consortium (ExAC) 0.00007
The Genome Aggregation Database (gnomAD), exomes 0.00008
Links
ClinGen: CA019802
dbSNP: rs145023222
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 22, 2013 RCV000038331.4
Likely benign 1 criteria provided, single submitter Feb 21, 2019 RCV000233183.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACTC1 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1 315
LOC101928174 - - - GRCh38 - 305

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 28, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000166840.11
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
(Aug 22, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062002.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Tyr171Tyr in exon 3 of ACTC1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue ... (more)
Likely benign
(Feb 21, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000288807.3
Submitted: (Mar 14, 2019)
Evidence details

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 Jan 18, 2020