NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu) AND Moyamoya disease 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 11, 2018
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:: RCV000754708.1

Allele description [Variation Report for NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)]

NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)

Genes:

LOC126862663:BRD4-independent group 4 enhancer GRCh37_chr17:78345568-78346767 [Gene]
RNF213-AS1:RNF213 antisense RNA 1 [Gene - HGNC]
RNF213:ring finger protein 213 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)

HGVS:

NC_000017.11:g.80372536A>G
NG_031980.2:g.116676A>G
NM_001256071.3:c.12553A>GMANE SELECT
NP_001243000.2:p.Lys4185Glu
NC_000017.10:g.78346336A>G
NM_001256071.2:c.12553A>G

Protein change:

K4185E

Links:

dbSNP: rs1568149971

NCBI 1000 Genomes Browser:

rs1568149971

Molecular consequence:

NM_001256071.3:c.12553A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Moyamoya disease 2 (MYMY2)
Synonyms:: MOYAMOYA DISEASE 2, SUSCEPTIBILITY TO
Identifiers:: MONDO: MONDO:0011784; MedGen: C1846689; Orphanet: 2573; OMIM: 607151

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000839587	GOSgene, University College London Great Ormond Street Institute of Child Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 11, 2018)	inherited	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000839587

GOSgene, University College London Great Ormond Street Institute of Child Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 11, 2018)

inherited

case-control

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	case-control

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 GOSgene, University College London Great Ormond Street Institute of Child Health, SCV000839587.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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