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NM_016592.5(GNAS):c.511C>T (p.Pro171Ser) AND GNAS-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 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:
RCV004539250.2

Allele description [Variation Report for NM_016592.5(GNAS):c.511C>T (p.Pro171Ser)]

NM_016592.5(GNAS):c.511C>T (p.Pro171Ser)

Genes:
GNAS-AS1:GNAS antisense RNA 1 [Gene - OMIM - HGNC]
GNAS:GNAS complex locus [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.32
Genomic location:
Preferred name:
NM_016592.5(GNAS):c.511C>T (p.Pro171Ser)
HGVS:
  • NC_000020.11:g.58840617C>T
  • NG_016194.2:g.5878C>T
  • NG_021433.1:g.15287G>A
  • NM_001410912.1:c.-227C>T
  • NM_016592.5:c.511C>T
  • NP_057676.1:p.Pro171Ser
  • LRG_1051:g.15287G>A
  • NC_000020.10:g.57415672C>T
  • NM_016592.3:c.511C>T
Protein change:
P171S
Molecular consequence:
  • NM_001410912.1:c.-227C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_016592.5:c.511C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
GNAS-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004711902PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Feb 20, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004711902.2

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

Description

The GNAS c.511C>T variant is predicted to result in the amino acid substitution p.Pro171Ser. In other transcripts of GNAS, such as NM_000516, this variant is found in a non-coding region of the gene and is known as c.-51110C>T. This variant is reported in 0.00090% of alleles in individuals of European (non-Finnish) descent in gnomAD. To our knowledge, this variant has not been reported in the literature. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 10, 2024