NM_173798.4(ZCCHC12):c.1179C>A (p.Gly393=) AND ZCCHC12-related disorder

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 28, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003926261.2

Allele description [Variation Report for NM_173798.4(ZCCHC12):c.1179C>A (p.Gly393=)]

NM_173798.4(ZCCHC12):c.1179C>A (p.Gly393=)

Gene:

ZCCHC12:zinc finger CCHC-type containing 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq24

Genomic location:

Preferred name:

NM_173798.4(ZCCHC12):c.1179C>A (p.Gly393=)

HGVS:

NC_000023.11:g.118826423C>A
NG_042836.1:g.7681C>A
NM_001312891.2:c.1179C>A
NM_173798.4:c.1179C>AMANE SELECT
NP_001299820.1:p.Gly393=
NP_776159.1:p.Gly393=
NC_000023.10:g.117960386C>A
NM_173798.3:c.1179C>A

Links:

dbSNP: rs34318459

NCBI 1000 Genomes Browser:

rs34318459

Molecular consequence:

NM_001312891.2:c.1179C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_173798.4:c.1179C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: ZCCHC12-related disorder
Synonyms:: ZCCHC12-related condition
Identifiers:

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Leucine-rich repeat protein kinase family protein [Arabidopsis thaliana]
Leucine-rich repeat protein kinase family protein [Arabidopsis thaliana]
gi|42565049|ref|NP_188654.2|

Protein
Growth Differentiation Factor 10
Growth Differentiation Factor 10
A growth differentiation factor that is closely-related in structure to BONE MORPHOGENETIC PROTEIN 3. Growth differentiation factor 10 is found at high levels in BONE, however...<br/>Year introduced: 2009

MeSH
Bone Morphogenetic Protein 5
Bone Morphogenetic Protein 5
A bone morphogenetic protein that may play a role in CARTILAGE formation. It is a potent regulator of the growth of CHONDROCYTES and the synthesis of cartilage matrix proteins...<br/>Year introduced: 2009(1997)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004743496	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Benign (Aug 28, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004743496

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Benign
(Aug 28, 2019)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004743496.2

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

Description

This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Oct 13, 2024

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