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NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys) AND Syndromic X-linked intellectual disability 94

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 16, 2019
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:
RCV001814627.1

Allele description [Variation Report for NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys)]

NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys)

Gene:
GRIA3:glutamate ionotropic receptor AMPA type subunit 3 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
Xq25
Genomic location:
Preferred name:
NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys)
Other names:
p.Gly680Cys
HGVS:
  • NC_000023.11:g.123428101_123428103delinsTGT
  • NG_009377.2:g.248859_248861delinsTGT
  • NM_000828.5:c.2038_2040delinsTGT
  • NM_007325.5:c.2038_2040delinsTGTMANE SELECT
  • NP_000819.4:p.Gly680Cys
  • NP_015564.5:p.Gly680Cys
  • NC_000023.10:g.122561952_122561954delinsTGT
  • NM_000828.4:c.2038_2040delGGGinsTGT
Protein change:
G680C
Links:
dbSNP: rs2147401116
NCBI 1000 Genomes Browser:
rs2147401116
Molecular consequence:
  • NM_000828.5:c.2038_2040delinsTGT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007325.5:c.2038_2040delinsTGT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Syndromic X-linked intellectual disability 94 (MRXSW)
Synonyms:
MENTAL RETARDATION, X-LINKED, SYNDROMIC 29
Identifiers:
MONDO: MONDO:0010402; MedGen: C2678051; OMIM: 300699

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002060420Laboratory of Human Genetics, Universidade de São Paulo
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 16, 2019) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Braziliande novoyes1not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Human Genetics, Universidade de São Paulo, SCV002060420.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Brazilian1not providednot providedresearch PubMed (1)

Description

ACMG: PM2, PS2, and PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023