NM_001365068.1(ASTN2):c.2806+26861G>A AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 5, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000727091.2

Allele description [Variation Report for NM_001365068.1(ASTN2):c.2806+26861G>A]

NM_001365068.1(ASTN2):c.2806+26861G>A

Genes:
ASTN2:astrotactin 2 [Gene - OMIM - HGNC]
TRIM32:tripartite motif containing 32 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q33.1
Genomic location:
Preferred name:
NM_001365068.1(ASTN2):c.2806+26861G>A
HGVS:
  • NC_000009.12:g.116698910C>T
  • NG_011619.1:g.16609C>T
  • NG_021409.1:g.721129G>A
  • NG_021409.2:g.721148G>A
  • NM_001099679.2:c.1168C>T
  • NM_001365068.1:c.2806+26861G>AMANE SELECT
  • NM_001365069.1:c.2794+26861G>A
  • NM_012210.3:c.1168C>T
  • NM_014010.5:c.2653+26861G>A
  • NP_001093149.1:p.Arg390Cys
  • NP_036342.2:p.Arg390Cys
  • LRG_211t1:c.1168C>T
  • LRG_211:g.16609C>T
  • LRG_211p1:p.Arg390Cys
  • NC_000009.11:g.119461189C>T
Protein change:
R390C
Links:
dbSNP: rs754554333
NCBI 1000 Genomes Browser:
rs754554333
Molecular consequence:
  • NM_001365068.1:c.2806+26861G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365069.1:c.2794+26861G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014010.5:c.2653+26861G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001099679.2:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012210.3:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000620599GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 5, 2017)
germlineclinical testing

Citation Link,

SCV000705574EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Mar 7, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000620599.2

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

Description

The R390C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R390C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000705574.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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