NM_032040.5(CCDC8):c.43C>G (p.Arg15Gly) AND 3M syndrome 3

Germline classification:: Uncertain significance (1 submission)
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:: RCV003228725.2

Allele description [Variation Report for NM_032040.5(CCDC8):c.43C>G (p.Arg15Gly)]

NM_032040.5(CCDC8):c.43C>G (p.Arg15Gly)

Gene:

CCDC8:coiled-coil domain containing 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_032040.5(CCDC8):c.43C>G (p.Arg15Gly)

HGVS:

NC_000019.10:g.46412768G>C
NG_031956.1:g.5895C>G
NG_141650.1:g.931G>C
NM_032040.5:c.43C>GMANE SELECT
NP_114429.2:p.Arg15Gly
LRG_1258t1:c.43C>G
LRG_1258:g.5895C>G
LRG_1258p1:p.Arg15Gly
NC_000019.9:g.46916025G>C

Protein change:

R15G

Links:

dbSNP: rs200189331

NCBI 1000 Genomes Browser:

rs200189331

Molecular consequence:

NM_032040.5:c.43C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: 3M syndrome 3
Synonyms:: THREE M SYNDROME 3
Identifiers:: MONDO: MONDO:0013627; MedGen: C3280146; Orphanet: 2616; OMIM: 614205

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003925546	Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003925546

Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
South Asian, Indian	germline	yes	not provided	not provided	not provided	not provided	not provided	research

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 Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, SCV003925546.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	South Asian, Indian	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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