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NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 17, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000788670.3

Allele description [Variation Report for NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)]

NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)

Genes:
ACTA2-AS1:ACTA2 antisense RNA 1 [Gene - HGNC]
ACTA2:actin alpha 2, smooth muscle [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)
HGVS:
  • NC_000010.11:g.88939595C>G
  • NG_011541.1:g.56796G>C
  • NM_001141945.3:c.720G>C
  • NM_001320855.2:c.720G>C
  • NM_001406462.1:c.720G>C
  • NM_001406463.1:c.720G>C
  • NM_001406464.1:c.720G>C
  • NM_001406466.1:c.609G>C
  • NM_001406467.1:c.591G>C
  • NM_001406468.1:c.591G>C
  • NM_001406469.1:c.591G>C
  • NM_001613.4:c.720G>CMANE SELECT
  • NP_001135417.1:p.Lys240Asn
  • NP_001135417.1:p.Lys240Asn
  • NP_001135417.1:p.Lys240Asn
  • NP_001307784.1:p.Lys240Asn
  • NP_001307784.1:p.Lys240Asn
  • NP_001393391.1:p.Lys240Asn
  • NP_001393392.1:p.Lys240Asn
  • NP_001393393.1:p.Lys240Asn
  • NP_001393395.1:p.Lys203Asn
  • NP_001393396.1:p.Lys197Asn
  • NP_001393397.1:p.Lys197Asn
  • NP_001393398.1:p.Lys197Asn
  • NP_001604.1:p.Lys240Asn
  • NP_001604.1:p.Lys240Asn
  • LRG_781t1:c.720G>C
  • LRG_781t2:c.720G>C
  • LRG_781:g.56796G>C
  • LRG_781p1:p.Lys240Asn
  • LRG_781p2:p.Lys240Asn
  • NC_000010.10:g.90699352C>G
  • NM_001141945.1:c.720G>C
  • NM_001141945.2:c.720G>C
  • NM_001320855.1:c.720G>C
  • NM_001613.2:c.720G>C
  • NR_125373.1:n.1664C>G
Protein change:
K197N
Links:
dbSNP: rs727502878
NCBI 1000 Genomes Browser:
rs727502878
Molecular consequence:
  • NM_001141945.3:c.720G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320855.2:c.720G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406462.1:c.720G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406463.1:c.720G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406464.1:c.720G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406466.1:c.609G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406467.1:c.591G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406468.1:c.591G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406469.1:c.591G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001613.4:c.720G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_125373.1:n.1664C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000927862Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Likely pathogenic
(Aug 17, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000927862.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 3, 2025