NM_001103.3(ACTN2):c.18C>T (p.Pro6=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Sep 14, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000036889.5

Allele description [Variation Report for NM_001103.3(ACTN2):c.18C>T (p.Pro6=)]

NM_001103.3(ACTN2):c.18C>T (p.Pro6=)

Gene:
ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_001103.3(ACTN2):c.18C>T (p.Pro6=)
HGVS:
  • NC_000001.11:g.236686691C>T
  • NG_009081.1:g.5222C>T
  • NM_001103.3:c.18C>T
  • NM_001278343.2:c.18C>T
  • NM_001278344.1:c.-804C>T
  • NP_001094.1:p.Pro6=
  • NP_001265272.1:p.Pro6=
  • NC_000001.10:g.236849991C>T
  • NM_001103.2:c.18C>T
  • c.18C>T
  • p.Pro6Pro
Links:
dbSNP: rs368367224
NCBI 1000 Genomes Browser:
rs368367224
Molecular consequence:
  • NM_001278344.1:c.-804C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001103.3:c.18C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278343.2:c.18C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000060544Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Aug 14, 2014)
germlineclinical testing

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

SCV000726900GeneDxcriteria provided, single submitter
Likely benign
(Feb 20, 2018)
germlineclinical testing

Citation Link,

SCV001361342Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(Sep 14, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000060544.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From GeneDx, SCV000726900.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001361342.1

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

Last Updated: Jul 7, 2021

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