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NM_001387274.1(DCDC1):c.2933G>A (p.Arg978Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 4, 2021
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:
RCV004373244.1

Allele description [Variation Report for NM_001387274.1(DCDC1):c.2933G>A (p.Arg978Gln)]

NM_001387274.1(DCDC1):c.2933G>A (p.Arg978Gln)

Gene:
DCDC1:doublecortin domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p14.1
Genomic location:
Preferred name:
NM_001387274.1(DCDC1):c.2933G>A (p.Arg978Gln)
HGVS:
  • NC_000011.10:g.30925373C>T
  • NM_001367979.1:c.2933G>A
  • NM_001387274.1:c.2933G>AMANE SELECT
  • NM_001387275.1:c.-314G>A
  • NM_020869.4:c.254G>A
  • NP_001354908.1:p.Arg978Gln
  • NP_001374203.1:p.Arg978Gln
  • NP_065920.2:p.Arg85Gln
  • NC_000011.9:g.30946920C>T
  • NM_020869.3:c.254G>A
Protein change:
R85Q
Molecular consequence:
  • NM_001387275.1:c.-314G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001367979.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387274.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020869.4:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004853801Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 4, 2021) 		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, SCV004853801.1

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

Description

The c.254G>A (p.R85Q) alteration is located in exon 4 (coding exon 3) of the DCDC5 gene. This alteration results from a G to A substitution at nucleotide position 254, causing the arginine (R) at amino acid position 85 to be replaced by a glutamine (Q). 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