NM_002074.5(GNB1):c.301A>G (p.Met101Val) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Mar 8, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

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

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

GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_002074.5(GNB1):c.301A>G (p.Met101Val)
  • 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
UniProtKB: P62873#VAR_076650; OMIM: 139380.0005; dbSNP: rs869312825
NCBI 1000 Genomes Browser:
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]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000571181GeneDxcriteria provided, single submitter
Likely pathogenic
(Mar 8, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000571181.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27108799, 30194818)

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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