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NM_022786.3(ARV1):c.674-2A>T AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 14, 2016
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:
RCV000623178.3

Allele description [Variation Report for NM_022786.3(ARV1):c.674-2A>T]

NM_022786.3(ARV1):c.674-2A>T

Gene:
ARV1:ARV1 homolog, fatty acid homeostasis modulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.2
Genomic location:
Preferred name:
NM_022786.3(ARV1):c.674-2A>T
HGVS:
  • NC_000001.11:g.230997119A>T
  • NG_052022.1:g.23071A>T
  • NM_001346992.2:c.773-2A>T
  • NM_022786.3:c.674-2A>TMANE SELECT
  • NC_000001.10:g.231132865A>T
  • NM_001346992.1:c.773-2A>T
  • NM_022786.1:c.674-2A>T
  • NM_022786.2:c.674-2A>T
Nucleotide change:
IVS4AS, A-T, -2
Links:
OMIM: 611647.0003; dbSNP: rs1192627743
NCBI 1000 Genomes Browser:
rs1192627743
Molecular consequence:
  • NM_001346992.2:c.773-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_022786.3:c.674-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000741089Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Pathogenic
(Jul 14, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741089.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023