NM_016592.5(GNAS):c.337_348del (p.111TESE[1]) AND GNAS-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 22, 2024
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:: RCV004736075.1

Allele description [Variation Report for NM_016592.5(GNAS):c.337_348del (p.111TESE[1])]

NM_016592.5(GNAS):c.337_348del (p.111TESE[1])

Genes:

GNAS-AS1:GNAS antisense RNA 1 [Gene - OMIM - HGNC]
GNAS:GNAS complex locus [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

20q13.32

Genomic location:

Preferred name:

NM_016592.5(GNAS):c.337_348del (p.111TESE[1])

HGVS:

NC_000020.11:g.58840443_58840454del
NG_016194.2:g.5704_5715del
NG_021433.1:g.15460_15471del
NM_001410912.1:c.-401_-390del
NM_016592.5:c.337_348del
NP_057676.1:p.111TESE[1]
LRG_1051:g.15460_15471del
NC_000020.10:g.57415498_57415509del
NM_016592.3:c.337_348del12

Molecular consequence:

NM_001410912.1:c.-401_-390del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_016592.5:c.337_348del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: GNAS-related disorder
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005365335	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Sep 22, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005365335

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Sep 22, 2024)

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, SCV005365335.1

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

Description

The GNAS c.337_348del12 variant is predicted to result in an in-frame deletion (p.Thr115_Glu118del). To our knowledge, this variant has not been reported in the literature. Of note, the GNAS locus on chromosome 20 is complex and can produce many different transcripts. In the primary GNAS transcript, NM_000516, this variant occurs in a non-coding region and is designated as c.-51284_-51273del12. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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: Nov 30, 2024

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