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NM_001282225.2(ADA2):c.973-2A>G AND Sneddon syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2022
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:
RCV003225732.8

Allele description [Variation Report for NM_001282225.2(ADA2):c.973-2A>G]

NM_001282225.2(ADA2):c.973-2A>G

Gene:
ADA2:adenosine deaminase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.1
Genomic location:
Preferred name:
NM_001282225.2(ADA2):c.973-2A>G
HGVS:
  • NC_000022.11:g.17188449T>C
  • NG_033943.1:g.38406A>G
  • NG_144784.1:g.605T>C
  • NG_144785.1:g.103T>C
  • NM_001282225.2:c.973-2A>GMANE SELECT
  • NM_001282226.2:c.973-2A>G
  • NM_001282227.2:c.847-2A>G
  • NM_001282228.2:c.847-2A>G
  • NM_001282229.2:c.613-2A>G
  • NM_177405.3:c.250-2A>G
  • LRG_1217t1:c.973-2A>G
  • LRG_1217:g.38406A>G
  • NC_000022.10:g.17669339T>C
  • NM_001282225.1:c.973-2A>G
Links:
dbSNP: rs139750129
NCBI 1000 Genomes Browser:
rs139750129
Molecular consequence:
  • NM_001282225.2:c.973-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001282226.2:c.973-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001282227.2:c.847-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001282228.2:c.847-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001282229.2:c.613-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_177405.3:c.250-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Sneddon syndrome (SNDNS)
Synonyms:
Sneddon's syndrome; Livedo reticularis and cerebrovascular accidents; Cerebro-vascular lesions and livedo reticularis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008436; MedGen: C0282492; Orphanet: 820; OMIM: 182410

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003807803Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 1, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807803.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PVS1 very strong, PM2 supporting, PM3 very strong, PP1 supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024