NM_000516.7(GNAS):c.936T>C (p.Phe312=) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (4 submissions)
Last evaluated:: Jun 1, 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:: RCV001699761.11

Allele description

NM_000516.7(GNAS):c.936T>C (p.Phe312=)

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.936T>C (p.Phe312=)

HGVS:

NC_000020.11:g.58910047T>C
NG_016194.2:g.75308T>C
NM_000516.5:c.936T>C
NM_000516.7:c.936T>CMANE SELECT
NM_001077488.5:c.939T>C
NM_001077489.4:c.891T>C
NM_001077490.3:c.*797T>C
NM_001309840.2:c.759T>C
NM_001309861.2:c.759T>C
NM_016592.5:c.*842T>C
NM_080425.4:c.2865T>C
NM_080426.4:c.894T>C
NP_000507.1:p.Phe312=
NP_001070956.1:p.Phe313=
NP_001070957.1:p.Phe297=
NP_001296769.1:p.Phe253=
NP_001296790.1:p.Phe253=
NP_536350.2:p.Phe955=
NP_536351.1:p.Phe298=
NC_000020.10:g.57485102T>C
NM_080425.3:c.2865T>C

Links:

dbSNP: rs764458531

NCBI 1000 Genomes Browser:

rs764458531

Molecular consequence:

NM_001077490.3:c.*797T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_016592.5:c.*842T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000516.7:c.936T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001077488.5:c.939T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001077489.4:c.891T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001309840.2:c.759T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001309861.2:c.759T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_080425.4:c.2865T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_080426.4:c.894T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae) (DCLRE1A), mRNA
gi|23618906|ref|NM_014881.1|

Nucleotide
Homo sapiens histidyl-tRNA synthetase (HARS) mRNA
Homo sapiens histidyl-tRNA synthetase (HARS) mRNA
gi|4504336|ref|NM_002109.1|

Nucleotide
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Cystofilobasidium capitatum genomic DNA sequence contains 5.8S rRNA gene, isolate LW uncultured Cystofilobasidium capitatum, clone M01452:264:000000000-D5YNG:1:1101:8601:25556
gi|2174853689|emb|LR873685.1|

Nucleotide
CR571469 XGC-tailbud-head Xenopus tropicalis cDNA clone THdA031l11 5', mRNA sequ...
CR571469 XGC-tailbud-head Xenopus tropicalis cDNA clone THdA031l11 5', mRNA sequence
gi|50458895|gnl|dbEST|24656677|emb| 469.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001920778	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	Likely benign	germline	clinical testing
SCV001966601	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV002438893	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 25, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005075123	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jun 1, 2024)	germline	clinical testing	Citation Link

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Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001920778.1

#	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 Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001966601.1

#	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 Labcorp Genetics (formerly Invitae), Labcorp, SCV002438893.3

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV005075123.2

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

Description

GNAS: BP4, BP7

#	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		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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