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NM_001195553.2(DCX):c.680A>C (p.Lys227Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 18, 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:
RCV004375486.1

Allele description [Variation Report for NM_001195553.2(DCX):c.680A>C (p.Lys227Thr)]

NM_001195553.2(DCX):c.680A>C (p.Lys227Thr)

Gene:
DCX:doublecortin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_001195553.2(DCX):c.680A>C (p.Lys227Thr)
HGVS:
  • NC_000023.11:g.111401015T>G
  • NG_011750.1:g.16164A>C
  • NM_000555.3:c.923A>C
  • NM_001195553.2:c.680A>CMANE SELECT
  • NM_001369370.1:c.680A>C
  • NM_001369371.1:c.680A>C
  • NM_001369372.1:c.680A>C
  • NM_001369373.1:c.680A>C
  • NM_001369374.1:c.680A>C
  • NM_001410715.1:c.680A>C
  • NM_178151.3:c.680A>C
  • NM_178152.3:c.680A>C
  • NM_178153.3:c.680A>C
  • NP_000546.2:p.Lys308Thr
  • NP_001182482.1:p.Lys227Thr
  • NP_001356299.1:p.Lys227Thr
  • NP_001356300.1:p.Lys227Thr
  • NP_001356301.1:p.Lys227Thr
  • NP_001356302.1:p.Lys227Thr
  • NP_001356303.1:p.Lys227Thr
  • NP_001397644.1:p.Lys227Thr
  • NP_835364.1:p.Lys227Thr
  • NP_835365.1:p.Lys227Thr
  • NP_835366.1:p.Lys227Thr
  • NC_000023.10:g.110644243T>G
  • NM_178153.2:c.680A>C
Protein change:
K227T
Molecular consequence:
  • NM_000555.3:c.923A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195553.2:c.680A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369370.1:c.680A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369371.1:c.680A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369372.1:c.680A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369373.1:c.680A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369374.1:c.680A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410715.1:c.680A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178151.3:c.680A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178152.3:c.680A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178153.3:c.680A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004853831Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 18, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004853831.1

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

Description

The c.680A>C (p.K227T) alteration is located in exon 3 (coding exon 2) of the DCX gene. This alteration results from a A to C substitution at nucleotide position 680, causing the lysine (K) at amino acid position 227 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024