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NM_016592.5(GNAS):c.410C>T (p.Pro137Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 22, 2024
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:
RCV001776760.12

Allele description [Variation Report for NM_016592.5(GNAS):c.410C>T (p.Pro137Leu)]

NM_016592.5(GNAS):c.410C>T (p.Pro137Leu)

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.410C>T (p.Pro137Leu)
HGVS:
  • NC_000020.11:g.58840516C>T
  • NG_016194.2:g.5777C>T
  • NG_021433.1:g.15388G>A
  • NM_001410912.1:c.-328C>T
  • NM_016592.5:c.410C>T
  • NP_057676.1:p.Pro137Leu
  • LRG_1051:g.15388G>A
  • NC_000020.10:g.57415571C>T
Protein change:
P137L
Links:
dbSNP: rs2145471865
NCBI 1000 Genomes Browser:
rs2145471865
Molecular consequence:
  • NM_001410912.1:c.-328C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_016592.5:c.410C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002013574GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 22, 2024) 		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, SCV002013574.3

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene

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

Last Updated: Nov 10, 2024