NM_020988.3(GNAO1):c.725A>C (p.Asn242Thr) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 5, 2017
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:: RCV000488949.2

Allele description [Variation Report for NM_020988.3(GNAO1):c.725A>C (p.Asn242Thr)]

NM_020988.3(GNAO1):c.725A>C (p.Asn242Thr)

Gene:

GNAO1:G protein subunit alpha o1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

Preferred name:

NM_020988.3(GNAO1):c.725A>C (p.Asn242Thr)

HGVS:

NC_000016.10:g.56351385A>C
NG_042800.1:g.165047A>C
NM_020988.3:c.725A>CMANE SELECT
NP_066268.1:p.Asn242Thr
NC_000016.9:g.56385297A>C
NM_020988.2:c.725A>C

Protein change:

N242T

Links:

dbSNP: rs1085307894

NCBI 1000 Genomes Browser:

rs1085307894

Molecular consequence:

NM_020988.3:c.725A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000577613	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Dec 5, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000577613

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Dec 5, 2017)

germline

clinical testing

Citation Link

Help

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

Details of each submission

From GeneDx, SCV000577613.4

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

Description

The N242T variant in the GNAO1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The N242T variant is not observed in large population cohorts (Lek et al., 2016). The N242T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. This variant has been reported as a de novo variant with confirmed parentage in multiple patients with a GNAO1-related disorder previously tested at GeneDx. We interpret N242T as a pathogenic variant.

#	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

Last Updated: Apr 23, 2022

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