NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) AND Inborn genetic diseases

Clinical significance:Likely pathogenic (Last evaluated: Apr 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000622797.1

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_001282539.1:c.229G>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
  • NC_000001.10:g.1737952C>T
  • 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_001282539.1:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282539.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002074.5:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742305Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Apr 4, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanic/Mexican/Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Molecular basis for interactions of G protein betagamma subunits with effectors.

Ford CE, Skiba NP, Bae H, Daaka Y, Reuveny E, Shekter LR, Rosal R, Weng G, Yang CS, Iyengar R, Miller RJ, Jan LY, Lefkowitz RJ, Hamm HE.

Science. 1998 May 22;280(5367):1271-4.

PubMed [citation]
PMID:
9596582

Details of each submission

From Ambry Genetics, SCV000742305.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic/Mexican/Caucasian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 24, 2021

Support Center