NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) AND not specified

Clinical significance:Likely benign (Last evaluated: May 14, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000117178.2

Allele description [Variation Report for NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)]

NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)

Gene:
GRIN2A:glutamate ionotropic receptor NMDA type subunit 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.2
Genomic location:
Preferred name:
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
HGVS:
  • NC_000016.10:g.9938419A>T
  • NG_011812.1:g.249336T>A
  • NG_011812.2:g.249336T>A
  • NM_000833.5:c.547T>A
  • NM_001134407.3:c.547T>AMANE SELECT
  • NM_001134408.2:c.547T>A
  • NP_000824.1:p.Phe183Ile
  • NP_001127879.1:p.Phe183Ile
  • NP_001127880.1:p.Phe183Ile
  • NC_000016.9:g.10032276A>T
  • NM_000833.3:c.547T>A
  • NM_000833.4:c.547T>A
  • Q12879:p.Phe183Ile
Protein change:
F183I
Links:
UniProtKB: Q12879#VAR_067726; dbSNP: rs587780353
NCBI 1000 Genomes Browser:
rs587780353
Molecular consequence:
  • NM_000833.5:c.547T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134407.3:c.547T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134408.2:c.547T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000151342Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Likely benign
(May 14, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
germlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000151342.1

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

Last Updated: Oct 30, 2021

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