U.S. flag

An official website of the United States government

NM_001613.4(ACTA2):c.1020dup (p.Val341fs) AND Aortic aneurysm, familial thoracic 6

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2022
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:
RCV003036904.3

Allele description [Variation Report for NM_001613.4(ACTA2):c.1020dup (p.Val341fs)]

NM_001613.4(ACTA2):c.1020dup (p.Val341fs)

Genes:
ACTA2-AS1:ACTA2 antisense RNA 1 [Gene - HGNC]
ACTA2:actin alpha 2, smooth muscle [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_001613.4(ACTA2):c.1020dup (p.Val341fs)
HGVS:
  • NC_000010.11:g.88935337dup
  • NG_011541.1:g.61054dup
  • NM_001141945.3:c.1020dup
  • NM_001320855.2:c.1020dup
  • NM_001406462.1:c.1020dup
  • NM_001406463.1:c.1020dup
  • NM_001406464.1:c.1020dup
  • NM_001406466.1:c.909dup
  • NM_001406467.1:c.891dup
  • NM_001406468.1:c.891dup
  • NM_001406469.1:c.891dup
  • NM_001406471.1:c.828dup
  • NM_001613.4:c.1020dupMANE SELECT
  • NP_001135417.1:p.Val341Cysfs
  • NP_001135417.1:p.Val341Cysfs
  • NP_001135417.1:p.Val341fs
  • NP_001307784.1:p.Val341Cysfs
  • NP_001307784.1:p.Val341fs
  • NP_001393391.1:p.Val341Cysfs
  • NP_001393392.1:p.Val341Cysfs
  • NP_001393393.1:p.Val341Cysfs
  • NP_001393395.1:p.Val304Cysfs
  • NP_001393396.1:p.Val298Cysfs
  • NP_001393397.1:p.Val298Cysfs
  • NP_001393398.1:p.Val298Cysfs
  • NP_001393400.1:p.Val277Cysfs
  • NP_001604.1:p.Val341Cysfs
  • NP_001604.1:p.Val341fs
  • LRG_781t1:c.1020dup
  • LRG_781t2:c.1020dup
  • LRG_781:g.61054dup
  • LRG_781p1:p.Val341Cysfs
  • LRG_781p2:p.Val341Cysfs
  • NC_000010.10:g.90695093_90695094insA
  • NC_000010.10:g.90695094dup
  • NM_001141945.1:c.1020dup
  • NM_001141945.2:c.1020dup
  • NM_001320855.1:c.1020dup
  • NM_001613.2:c.1020dup
  • NR_125373.1:n.962dup
Protein change:
V341fs
Molecular consequence:
  • NM_001141945.3:c.1020dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320855.2:c.1020dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406462.1:c.1020dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406463.1:c.1020dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406464.1:c.1020dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406466.1:c.909dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406467.1:c.891dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406468.1:c.891dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406469.1:c.891dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406471.1:c.828dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001613.4:c.1020dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_125373.1:n.962dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Aortic aneurysm, familial thoracic 6 (AAT6)
Synonyms:
FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
Identifiers:
MONDO: MONDO:0012730; MedGen: C2673186; OMIM: 611788

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003348891Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(May 3, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003348891.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change creates a premature translational stop signal (p.Val341Cysfs*26) in the ACTA2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 37 amino acid(s) of the ACTA2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACTA2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024