NM_016006.6(ABHD5):c.*3289_*3292ACAG[1] AND Triglyceride storage disease with ichthyosis

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000287174.2

Allele description [Variation Report for NM_016006.6(ABHD5):c.*3289_*3292ACAG[1]]

NM_016006.6(ABHD5):c.*3289_*3292ACAG[1]

Gene:
ABHD5:abhydrolase domain containing 5, lysophosphatidic acid acyltransferase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
3p21.33
Genomic location:
Preferred name:
NM_016006.6(ABHD5):c.*3289_*3292ACAG[1]
HGVS:
  • NC_000003.12:g.43721821_43721824ACAG[1]
  • NG_007090.5:g.35952_35955ACAG[1]
  • NM_001355186.2:c.29+3264_29+3267del
  • NM_001365649.1:c.*3289_*3292ACAG[1]
  • NM_001365650.1:c.*3315_*3318ACAG[1]
  • NM_016006.6:c.*3289_*3292ACAG[1]MANE SELECT
  • LRG_1174t1:c.*3289_*3292ACAG[1]
  • LRG_1174:g.35952_35955ACAG[1]
  • NC_000003.11:g.43763313_43763316ACAG[1]
  • NM_016006.4:c.*3293_*3296delACAG
  • NR_158560.1:n.4350_4353ACAG[1]
Links:
dbSNP: rs542283317
NCBI 1000 Genomes Browser:
rs542283317
Molecular consequence:
  • NM_001365649.1:c.*3289_*3292ACAG[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001365650.1:c.*3315_*3318ACAG[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016006.6:c.*3289_*3292ACAG[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001355186.2:c.29+3264_29+3267del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_158560.1:n.4350_4353ACAG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Triglyceride storage disease with ichthyosis (CDS)
Synonyms:
Triglyceride storage disease with impaired long-chain fatty acid oxidation; Neutral lipid storage disease with ichthyotic; Ichthyosiform erythroderma with leukocyte vacuolation; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010155; MedGen: C0268238; Orphanet: 98907; OMIM: 275630

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000444420Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000444420.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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