NM_000516.7(GNAS):c.393C>T (p.Ile131=) AND not specified

Germline classification:: Benign (6 submissions)
Last evaluated:: Feb 6, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000178784.13

Allele description [Variation Report for NM_000516.7(GNAS):c.393C>T (p.Ile131=)]

NM_000516.7(GNAS):c.393C>T (p.Ile131=)

Gene:

GNAS:GNAS complex locus [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

Preferred name:

NM_000516.7(GNAS):c.393C>T (p.Ile131=)

HGVS:

NC_000020.11:g.58903752C>T
NG_016194.2:g.69013C>T
NM_000516.7:c.393C>TMANE SELECT
NM_001077488.5:c.396C>T
NM_001077489.4:c.348C>T
NM_001077490.3:c.*254C>T
NM_001309840.2:c.216C>T
NM_001309861.2:c.216C>T
NM_016592.5:c.*299C>T
NM_080425.4:c.2322C>T
NM_080426.4:c.351C>T
NP_000507.1:p.Ile131=
NP_001070956.1:p.Ile132=
NP_001070957.1:p.Ile116=
NP_001296769.1:p.Ile72=
NP_001296790.1:p.Ile72=
NP_536350.2:p.Ile774=
NP_536351.1:p.Ile117=
NC_000020.10:g.57478807C>T
NM_000516.4:c.393C>T
NM_016592.4:c.*299C>T
NM_080425.2:c.2322C>T
p.Ile774Ile

Links:

dbSNP: rs7121

NCBI 1000 Genomes Browser:

rs7121

Molecular consequence:

NM_001077490.3:c.*254C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_016592.5:c.*299C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000516.7:c.393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001077488.5:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001077489.4:c.348C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001309840.2:c.216C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001309861.2:c.216C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_080425.4:c.2322C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_080426.4:c.351C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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hypothetical protein, partial [Pseudoalteromonas sp. APC 3694]
hypothetical protein, partial [Pseudoalteromonas sp. APC 3694]
gi|2532725726|ref|WP_290156841.1|

Protein
janus kinase and microtubule-interacting protein 3 isoform e [Homo sapiens]
janus kinase and microtubule-interacting protein 3 isoform e [Homo sapiens]
gi|1972711888|ref|NP_001378975.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000230939	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Oct 13, 2014)	germline	clinical testing	Citation Link,
SCV000711852	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Mar 21, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001740708	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV001922544	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001927966	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV004243007	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Feb 6, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000230939.5

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

#	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		1	not provided	not provided	not provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000711852.1

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

Description

p.Ile774Ile in exon 5 of GNAS: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 81.39% (1076/1322) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs7121).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001740708.3

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001922544.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001927966.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV004243007.1

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

#	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: Sep 29, 2024

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