NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) AND Autism spectrum disorder

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001291375.9

Allele description [Variation Report for NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)]

NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)

Gene:

GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

Preferred name:

NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)

HGVS:

NC_000001.11:g.1806513C>T
NG_047052.1:g.89605G>A
NM_001282538.2:c.-72G>A
NM_001282539.2:c.229G>A
NM_002074.5:c.229G>AMANE SELECT
NP_001269468.1:p.Gly77Ser
NP_001269468.1:p.Gly77Ser
NP_002065.1:p.Gly77Ser
NC_000001.10:g.1737952C>T
NM_001282539.1:c.229G>A
NM_002074.3:c.229G>A
NM_002074.4:c.229G>A
P62873:p.Gly77Ser

Protein change:

G77S

Links:

UniProtKB: P62873#VAR_076645; dbSNP: rs758432471

NCBI 1000 Genomes Browser:

rs758432471

Molecular consequence:

NM_001282538.2:c.-72G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001282539.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002074.5:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autism spectrum disorder
Synonyms:: Autism spectrum disorders
Identifiers:: MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001479849	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001479849

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

de novo

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ; University of Washington Center for Mendelian Genomics., Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE.

Genet Med. 2019 Jul;21(7):1611-1620. doi: 10.1038/s41436-018-0380-2. Epub 2018 Dec 3.

PubMed [citation]

PMID:: 30504930
PMCID:: PMC6546556

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479849.1

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

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

Last Updated: Nov 3, 2024

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