U.S. flag

An official website of the United States government

NM_025004.3(CCDC15):c.541C>T (p.Arg181Cys) AND Neurodevelopmental disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 19, 2024
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:
RCV004587462.1

Allele description [Variation Report for NM_025004.3(CCDC15):c.541C>T (p.Arg181Cys)]

NM_025004.3(CCDC15):c.541C>T (p.Arg181Cys)

Gene:
CCDC15:coiled-coil domain containing 15 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q24.2
Genomic location:
Preferred name:
NM_025004.3(CCDC15):c.541C>T (p.Arg181Cys)
Other names:
NM_025004.3(CCDC15):c.541C>T; p.Arg181Cys
HGVS:
  • NC_000011.10:g.124975120C>T
  • NG_052613.1:g.26000C>T
  • NM_025004.3:c.541C>TMANE SELECT
  • NP_079280.2:p.Arg181Cys
  • NC_000011.9:g.124845016C>T
  • NM_025004.2:c.541C>T
Protein change:
R181C
Molecular consequence:
  • NM_025004.3:c.541C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurodevelopmental disorder
Identifiers:
MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005077898Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard - GREGoR Consortium
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Jun 19, 2024) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard - GREGoR Consortium, SCV005077898.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

The p.Arg181Cys variant in CCDC15 was identified by our study, in the compound heterozygous state along with another variant of uncertain significance, in 1 individual with a neurodevelopmental disorder. While this gene is still lacking sufficient evidence to establish a gene-disease relationship, we believe this is a possible novel gene candidate for neurodevelopmental disorders. Given the limited information about this gene-disease relationship, the significance of the p.Arg181Cys variant is uncertain. If you have any additional information about functional evidence or other individuals with this phenotype that also have variants in CCDC15 we encourage you to reach out to us.

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

Last Updated: Oct 13, 2024