NM_198903.2(GABRG2):c.1327A>G (p.Thr443Ala) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Mar 10, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000992028.3

Allele description [Variation Report for NM_198903.2(GABRG2):c.1327A>G (p.Thr443Ala)]

NM_198903.2(GABRG2):c.1327A>G (p.Thr443Ala)

Gene:
GABRG2:gamma-aminobutyric acid type A receptor subunit gamma2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NM_198903.2(GABRG2):c.1327A>G (p.Thr443Ala)
HGVS:
  • NC_000005.10:g.162153147A>G
  • NG_009290.1:g.90506A>G
  • NM_000816.3:c.1183A>G
  • NM_001375339.1:c.1198A>G
  • NM_001375340.1:c.*41A>G
  • NM_001375341.1:c.1204A>G
  • NM_001375342.1:c.1180A>G
  • NM_001375343.1:c.1303A>G
  • NM_001375344.1:c.1246A>G
  • NM_001375345.1:c.1117A>G
  • NM_001375346.1:c.1141A>G
  • NM_001375347.1:c.1120A>G
  • NM_001375348.1:c.763A>G
  • NM_001375349.1:c.898A>G
  • NM_001375350.1:c.787A>G
  • NM_198903.2:c.1327A>G
  • NM_198904.3:c.1207A>G
  • NP_000807.2:p.Thr395Ala
  • NP_001362268.1:p.Thr400Ala
  • NP_001362270.1:p.Thr402Ala
  • NP_001362271.1:p.Thr394Ala
  • NP_001362272.1:p.Thr435Ala
  • NP_001362273.1:p.Thr416Ala
  • NP_001362274.1:p.Thr373Ala
  • NP_001362275.1:p.Thr381Ala
  • NP_001362276.1:p.Thr374Ala
  • NP_001362277.1:p.Thr255Ala
  • NP_001362278.1:p.Thr300Ala
  • NP_001362279.1:p.Thr263Ala
  • NP_944493.2:p.Thr443Ala
  • NP_944494.1:p.Thr403Ala
  • NC_000005.9:g.161580153A>G
Protein change:
T255A
Links:
dbSNP: rs757868774
NCBI 1000 Genomes Browser:
rs757868774
Molecular consequence:
  • NM_001375340.1:c.*41A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000816.3:c.1183A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375339.1:c.1198A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375341.1:c.1204A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375342.1:c.1180A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375343.1:c.1303A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375344.1:c.1246A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375345.1:c.1117A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375346.1:c.1141A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375347.1:c.1120A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375348.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375349.1:c.898A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375350.1:c.787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.1327A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.3:c.1207A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001143991Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Sep 28, 2018)
germlineclinical testing

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

SCV001786479GeneDxcriteria provided, single submitter
Likely benign
(Mar 10, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV001143991.1

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

From GeneDx, SCV001786479.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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