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NM_001195553.2(DCX):c.890G>C (p.Ser297Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 2023
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:
RCV003441254.1

Allele description [Variation Report for NM_001195553.2(DCX):c.890G>C (p.Ser297Thr)]

NM_001195553.2(DCX):c.890G>C (p.Ser297Thr)

Gene:
DCX:doublecortin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_001195553.2(DCX):c.890G>C (p.Ser297Thr)
HGVS:
  • NC_000023.11:g.111330960C>G
  • NG_011750.1:g.86219G>C
  • NM_000555.3:c.1133G>C
  • NM_001195553.2:c.890G>CMANE SELECT
  • NM_001369370.1:c.890G>C
  • NM_001369371.1:c.890G>C
  • NM_001369372.1:c.890G>C
  • NM_001369373.1:c.890G>C
  • NM_001369374.1:c.890G>C
  • NM_001410715.1:c.890G>C
  • NM_178151.3:c.890G>C
  • NM_178152.3:c.890G>C
  • NM_178153.3:c.890G>C
  • NP_000546.2:p.Ser378Thr
  • NP_001182482.1:p.Ser297Thr
  • NP_001356299.1:p.Ser297Thr
  • NP_001356300.1:p.Ser297Thr
  • NP_001356301.1:p.Ser297Thr
  • NP_001356302.1:p.Ser297Thr
  • NP_001356303.1:p.Ser297Thr
  • NP_001397644.1:p.Ser297Thr
  • NP_835364.1:p.Ser297Thr
  • NP_835365.1:p.Ser297Thr
  • NP_835366.1:p.Ser297Thr
  • NC_000023.10:g.110574188C>G
  • NM_178153.1:c.890G>C
Protein change:
S297T
Molecular consequence:
  • NM_000555.3:c.1133G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195553.2:c.890G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369370.1:c.890G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369371.1:c.890G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369372.1:c.890G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369373.1:c.890G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369374.1:c.890G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410715.1:c.890G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178151.3:c.890G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178152.3:c.890G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178153.3:c.890G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004170422GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 15, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV004170422.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Nov 25, 2023