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NM_138425.3(C12orf57):c.184C>T (p.Gln62Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 12, 2016
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:
RCV000414658.1

Allele description

NM_138425.3(C12orf57):c.184C>T (p.Gln62Ter)

Gene:
C12orf57:chromosome 12 open reading frame 57 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_138425.3(C12orf57):c.184C>T (p.Gln62Ter)
Other names:
C12ORF57, GLN62TER
HGVS:
  • NC_000012.12:g.6944607C>T
  • NG_034262.1:g.5791C>T
  • NM_001301837.1:c.142+42C>T
  • NM_138425.3:c.184C>T
  • NP_612434.1:p.Gln62Ter
  • NC_000012.11:g.7053770C>T
  • NM_138425.2:c.184C>T
Protein change:
Q62*; GLN62TER
Links:
OMIM: 615140.0003; dbSNP: rs587777698
NCBI 1000 Genomes Browser:
rs587777698
Molecular consequence:
  • NM_001301837.1:c.142+42C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_138425.3:c.184C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000490446GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Dec 12, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000490446.1

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

Description

The Q62X variant in the C12orf57 gene has been reported previously in the compound heterozygousstate with the c.1A>G variant in two siblings with severe intellectual disability, epislepsy, hypoplasia ofthe corpus callosum and chorioretinal coloboma (Platzer et al., 2014). This variant is predicted tocause loss of normal protein function through protein truncation. The Q62X variant was not observedin approximately 6500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. We interpretQ62X as a likely pathogenic variant.

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

Last Updated: Mar 31, 2019