NM_006267.5(RANBP2):c.3612C>T (p.Phe1204=) AND Encephalopathy, acute, infection-induced, 3, suceptibility to

Clinical significance:Benign (Last evaluated: May 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000547182.1

Allele description [Variation Report for NM_006267.5(RANBP2):c.3612C>T (p.Phe1204=)]

NM_006267.5(RANBP2):c.3612C>T (p.Phe1204=)

Gene:
RANBP2:RAN binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q13
Genomic location:
Preferred name:
NM_006267.5(RANBP2):c.3612C>T (p.Phe1204=)
HGVS:
  • NC_000002.12:g.108764151C>T
  • NG_012210.1:g.49671C>T
  • NM_006267.5:c.3612C>TMANE SELECT
  • NP_006258.3:p.Phe1204=
  • NC_000002.11:g.109380607C>T
  • NM_006267.4:c.3612C>T
Links:
dbSNP: rs749275095
NCBI 1000 Genomes Browser:
rs749275095
Molecular consequence:
  • NM_006267.5:c.3612C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Encephalopathy, acute, infection-induced, 3, suceptibility to (IIAE3)
Synonyms:
ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO; Susceptibility to Acute Necrotizing Encephalopathy 1
Identifiers:
MONDO: MONDO:0011953; MedGen: C2675556; Orphanet: 88619; OMIM: 608033

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000646807Invitaecriteria provided, single submitter
Benign
(May 23, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000646807.1

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

Last Updated: Jun 8, 2020

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