NM_002074.5(GNB1):c.301A>G (p.Met101Val) AND Mental retardation, autosomal dominant 42

Clinical significance:Pathogenic (Last evaluated: Feb 21, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000225171.4

Allele description [Variation Report for NM_002074.5(GNB1):c.301A>G (p.Met101Val)]

NM_002074.5(GNB1):c.301A>G (p.Met101Val)

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.301A>G (p.Met101Val)
HGVS:
  • NC_000001.11:g.1804548T>C
  • NG_047052.1:g.91570A>G
  • NM_001282538.2:c.1A>G
  • NM_001282539.2:c.301A>G
  • NM_002074.5:c.301A>GMANE SELECT
  • NP_001269467.1:p.Met1Val
  • NP_001269468.1:p.Met101Val
  • NP_002065.1:p.Met101Val
  • NC_000001.10:g.1735987T>C
  • NM_002074.3:c.301A>G
  • NM_002074.4:c.301A>G
  • P62873:p.Met101Val
Protein change:
M101V; MET101VAL
Links:
UniProtKB: P62873#VAR_076650; OMIM: 139380.0005; dbSNP: rs869312825
NCBI 1000 Genomes Browser:
rs869312825
Molecular consequence:
  • NM_001282538.2:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001282538.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282539.2:c.301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002074.5:c.301A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mental retardation, autosomal dominant 42 (MRD42)
Synonyms:
Intellectual disability, autosomal dominant 42
Identifiers:
MONDO: MONDO:0014855; MedGen: C4310774; OMIM: 616973

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000282065OMIMno assertion criteria providedPathogenic
(Aug 8, 2016)
germlineliterature only

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

SCV000803707Molecular Genetics Laboratory,BC Children's and BC Women's Hospitalscriteria provided, single submitter
Pathogenic
(Feb 21, 2018)
de novoclinical testing

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

SCV001478311GeneReviewsno assertion criteria providedPathogenic
(Feb 26, 2020)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

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

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics., et al.

Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21.

PubMed [citation]
PMID:
27108799
PMCID:
PMC4863562
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000282065.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 unrelated patients with autosomal dominant mental retardation-42 (MRD42; 616973), Petrovski et al. (2016) identified a de novo heterozygous c.301A-G transition (c.301A-G, NM_002074.4) in exon 7 of the GNB1 gene, resulting in a met101-to-val (M101V) substitution. The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, were filtered against the dbSNP, Exome Sequencing Project (March 2013), ExAC (January 2015), and 1000 Genome Project databases. Functional studies of the variant and studies of patient cells were not performed.

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

From Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals, SCV000803707.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

From GeneReviews, SCV001478311.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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