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NM_001195553.2(DCX):c.1077G>A (p.Ser359=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 10, 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:
RCV002407593.2

Allele description [Variation Report for NM_001195553.2(DCX):c.1077G>A (p.Ser359=)]

NM_001195553.2(DCX):c.1077G>A (p.Ser359=)

Gene:
DCX:doublecortin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_001195553.2(DCX):c.1077G>A (p.Ser359=)
HGVS:
  • NC_000023.11:g.111301711C>T
  • NG_011750.1:g.115468G>A
  • NM_000555.3:c.1302G>A
  • NM_001195553.2:c.1077G>AMANE SELECT
  • NM_001369370.1:c.1077G>A
  • NM_001369371.1:c.1074G>A
  • NM_001369372.1:c.1062G>A
  • NM_001369373.1:c.*4G>A
  • NM_001369374.1:c.*4G>A
  • NM_001410715.1:c.*4G>A
  • NM_178151.3:c.1059G>A
  • NM_178152.3:c.1074G>A
  • NM_178153.3:c.1059G>A
  • NP_000546.2:p.Ser434=
  • NP_001182482.1:p.Ser359=
  • NP_001356299.1:p.Ser359=
  • NP_001356300.1:p.Ser358=
  • NP_001356301.1:p.Ser354=
  • NP_835364.1:p.Ser353=
  • NP_835365.1:p.Ser358=
  • NP_835366.1:p.Ser353=
  • NC_000023.10:g.110544939C>T
  • NM_178153.2:c.1059G>A
Molecular consequence:
  • NM_001369373.1:c.*4G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369374.1:c.*4G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001410715.1:c.*4G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000555.3:c.1302G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195553.2:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369370.1:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369371.1:c.1074G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369372.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_178151.3:c.1059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_178152.3:c.1074G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_178153.3:c.1059G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002716623Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 10, 2020) 		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, SCV002716623.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024