NM_032040.5(CCDC8):c.887G>C (p.Gly296Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 10, 2023
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:: RCV003208453.2

Allele description [Variation Report for NM_032040.5(CCDC8):c.887G>C (p.Gly296Ala)]

NM_032040.5(CCDC8):c.887G>C (p.Gly296Ala)

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.887G>C (p.Gly296Ala)

HGVS:

NC_000019.10:g.46411924C>G
NG_031956.1:g.6739G>C
NG_141650.1:g.87C>G
NM_032040.5:c.887G>CMANE SELECT
NP_114429.2:p.Gly296Ala
LRG_1258t1:c.887G>C
LRG_1258:g.6739G>C
LRG_1258p1:p.Gly296Ala
NC_000019.9:g.46915181C>G
NM_032040.3:c.887G>C

Protein change:

G296A

Molecular consequence:

NM_032040.5:c.887G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

unknown protein [Arabidopsis thaliana]
unknown protein [Arabidopsis thaliana]
gi|17529302|gb|AAL38878.1|

Protein
RecName: Full=Protein CDC73 homolog; AltName: Full=Protein PLANT HOMOLOGOUS TO P...
RecName: Full=Protein CDC73 homolog; AltName: Full=Protein PLANT HOMOLOGOUS TO PARAFIBROMIN
gi|75273493|sp|Q9LJ87.1|CDC73_ARATH

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003884863	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003884863

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 10, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003884863.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.887G>C (p.G296A) alteration is located in exon 1 (coding exon 1) of the CCDC8 gene. This alteration results from a G to C substitution at nucleotide position 887, causing the glycine (G) at amino acid position 296 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine