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NM_001195553.2(DCX):c.667G>C (p.Gly223Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 14, 2020
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:
RCV000483287.2

Allele description [Variation Report for NM_001195553.2(DCX):c.667G>C (p.Gly223Arg)]

NM_001195553.2(DCX):c.667G>C (p.Gly223Arg)

Gene:
DCX:doublecortin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_001195553.2(DCX):c.667G>C (p.Gly223Arg)
HGVS:
  • NC_000023.11:g.111401028C>G
  • NG_011750.1:g.16151G>C
  • NM_000555.3:c.910G>C
  • NM_001195553.2:c.667G>CMANE SELECT
  • NM_001369370.1:c.667G>C
  • NM_001369371.1:c.667G>C
  • NM_001369372.1:c.667G>C
  • NM_001369373.1:c.667G>C
  • NM_001369374.1:c.667G>C
  • NM_178151.3:c.667G>C
  • NM_178152.3:c.667G>C
  • NM_178153.3:c.667G>C
  • NP_000546.2:p.Gly304Arg
  • NP_001182482.1:p.Gly223Arg
  • NP_001356299.1:p.Gly223Arg
  • NP_001356300.1:p.Gly223Arg
  • NP_001356301.1:p.Gly223Arg
  • NP_001356302.1:p.Gly223Arg
  • NP_001356303.1:p.Gly223Arg
  • NP_835364.1:p.Gly223Arg
  • NP_835365.1:p.Gly223Arg
  • NP_835366.1:p.Gly223Arg
  • NC_000023.10:g.110644256C>G
  • NM_178153.1:c.667G>C
Protein change:
G223R
Links:
dbSNP: rs587783577
NCBI 1000 Genomes Browser:
rs587783577
Molecular consequence:
  • NM_000555.3:c.910G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195553.2:c.667G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369370.1:c.667G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369371.1:c.667G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369372.1:c.667G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369373.1:c.667G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369374.1:c.667G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178151.3:c.667G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178152.3:c.667G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178153.3:c.667G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000571920GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Oct 14, 2020) 		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 GeneDx, SCV000571920.5

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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

Last Updated: Apr 23, 2022