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NM_001195553.2(DCX):c.955A>G (p.Thr319Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 2022
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:
RCV002267432.2

Allele description [Variation Report for NM_001195553.2(DCX):c.955A>G (p.Thr319Ala)]

NM_001195553.2(DCX):c.955A>G (p.Thr319Ala)

Gene:
DCX:doublecortin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_001195553.2(DCX):c.955A>G (p.Thr319Ala)
HGVS:
  • NC_000023.11:g.111312728T>C
  • NG_011750.1:g.104451A>G
  • NM_000555.3:c.1183A>G
  • NM_001195553.2:c.955A>GMANE SELECT
  • NM_001369370.1:c.955A>G
  • NM_001369371.1:c.955A>G
  • NM_001369372.1:c.940A>G
  • NM_001369373.1:c.932-10985A>G
  • NM_001369374.1:c.932-10985A>G
  • NM_178151.3:c.940A>G
  • NM_178152.3:c.955A>G
  • NM_178153.3:c.940A>G
  • NP_000546.2:p.Thr395Ala
  • NP_001182482.1:p.Thr319Ala
  • NP_001356299.1:p.Thr319Ala
  • NP_001356300.1:p.Thr319Ala
  • NP_001356301.1:p.Thr314Ala
  • NP_835364.1:p.Thr314Ala
  • NP_835365.1:p.Thr319Ala
  • NP_835366.1:p.Thr314Ala
  • NC_000023.10:g.110555956T>C
  • NM_178153.1:c.940A>G
Protein change:
T314A
Links:
dbSNP: rs2147595104
NCBI 1000 Genomes Browser:
rs2147595104
Molecular consequence:
  • NM_001369373.1:c.932-10985A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369374.1:c.932-10985A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000555.3:c.1183A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195553.2:c.955A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369370.1:c.955A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369371.1:c.955A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369372.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178151.3:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178152.3:c.955A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178153.3:c.940A>G - 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
SCV002549522GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jan 13, 2022) 		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, SCV002549522.2

#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: Dec 24, 2023