NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 16, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000485539.1

Allele description [Variation Report for NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln)]

NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln)

Gene:
COL4A2:collagen type IV alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln)
HGVS:
  • NC_000013.11:g.110508190G>A
  • NG_032137.1:g.205907G>A
  • NM_001846.4:c.4850G>A
  • NP_001837.2:p.Arg1617Gln
  • NC_000013.10:g.111160537G>A
  • NM_001846.2:c.4850G>A
Protein change:
R1617Q
Links:
dbSNP: rs748967769
NCBI 1000 Genomes Browser:
rs748967769
Molecular consequence:
  • NM_001846.4:c.4850G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000570687GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 16, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000570687.3

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

Description

The R1617Q variant in the COL4A2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1617Q variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R1617Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some 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. We interpret R1617Q as a variant of uncertain significance.

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

Last Updated: Nov 2, 2019

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