U.S. flag

An official website of the United States government

NM_002063.4(GLRA2):c.1334G>A (p.Arg445Gln) AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 10, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001813920.1

Allele description [Variation Report for NM_002063.4(GLRA2):c.1334G>A (p.Arg445Gln)]

NM_002063.4(GLRA2):c.1334G>A (p.Arg445Gln)

Genes:
FANCB:FA complementation group B [Gene - OMIM - HGNC]
GLRA2:glycine receptor alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_002063.4(GLRA2):c.1334G>A (p.Arg445Gln)
HGVS:
  • NC_000023.11:g.14730460G>A
  • NG_016459.2:g.206163G>A
  • NM_001118885.2:c.1334G>A
  • NM_001118886.2:c.1334G>A
  • NM_001171942.2:c.1067G>A
  • NM_002063.4:c.1334G>AMANE SELECT
  • NP_001112357.1:p.Arg445Gln
  • NP_001112358.1:p.Arg445Gln
  • NP_001165413.1:p.Arg356Gln
  • NP_002054.1:p.Arg445Gln
  • NC_000023.10:g.14748582G>A
  • NM_001118885.1:c.1334G>A
Protein change:
R356Q
Links:
dbSNP: rs768735440
NCBI 1000 Genomes Browser:
rs768735440
Molecular consequence:
  • NM_001118885.2:c.1334G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001118886.2:c.1334G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171942.2:c.1067G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002063.4:c.1334G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002056023Wangler Lab, Baylor College of Medicine
no assertion criteria provided
Likely pathogenic
(Jan 10, 2022) 		maternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedresearch

Details of each submission

From Wangler Lab, Baylor College of Medicine, SCV002056023.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided

Description

Marcogliese et al., (2022) have identified 13 unrelated subjects with a variable neurodevelopmental disorder with or without autistic features. This variant (c.1134G>A) results in p.Arg445Gln. This change has a very low allele frequency in GnomAD (PM2) and in silico models predict pathogenicity (PP3). We classify this variant to be likely pathogenic based on our cohort of affected individuals with similar phenotypes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023