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NM_001470.4(GABBR1):c.2864G>A (p.Arg955Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 22, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004390105.1

Allele description [Variation Report for NM_001470.4(GABBR1):c.2864G>A (p.Arg955Gln)]

NM_001470.4(GABBR1):c.2864G>A (p.Arg955Gln)

Gene:
GABBR1:gamma-aminobutyric acid type B receptor subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p22.1
Genomic location:
Preferred name:
NM_001470.4(GABBR1):c.2864G>A (p.Arg955Gln)
HGVS:
  • NC_000006.12:g.29603565C>T
  • NG_029101.1:g.34621G>A
  • NM_001319053.2:c.2333G>A
  • NM_001470.4:c.2864G>AMANE SELECT
  • NM_021903.3:c.2513G>A
  • NM_021904.4:c.2678G>A
  • NP_001305982.1:p.Arg778Gln
  • NP_001461.1:p.Arg955Gln
  • NP_068703.1:p.Arg838Gln
  • NP_068704.2:p.Arg893Gln
  • NC_000006.11:g.29571342C>T
  • NM_001470.2:c.2864G>A
Protein change:
R778Q
Molecular consequence:
  • NM_001319053.2:c.2333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001470.4:c.2864G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021903.3:c.2513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021904.4:c.2678G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004873921Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 22, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004873921.1

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

Description

The c.2864G>A (p.R955Q) alteration is located in exon 23 (coding exon 22) of the GABBR1 gene. This alteration results from a G to A substitution at nucleotide position 2864, causing the arginine (R) at amino acid position 955 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024