NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 31, 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:: RCV001712775.10

Allele description [Variation Report for NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT]

NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT

Genes:

ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT

HGVS:

NC_000017.11:g.7219936_7219937insGGGCGTGCAGGACGT
NG_007975.1:g.5103_5104insGGGCGTGCAGGACGT
NG_008391.2:g.5114_5115insACGTCCTGCACGCCC
NG_008391.3:g.5113_5114insACGTCCTGCACGCCC
NM_000018.3:c.-49_-48insGGGCGTGCAGGACGT
NM_001033859.2:c.-49_-48insGGGCGTGCAGGACGT
NM_001270447.2:c.132-186_132-185insGGGCGTGCAGGACGT
NM_001270448.1:c.-352_-351insGGGCGTGCAGGACGT
NM_001321074.1:c.-1088_-1087insACGTCCTGCACGCCC
NM_001365.4:c.-1088_-1087insACGTCCTGCACGCCC
NC_000017.10:g.7123255_7123256insGGGCGTGCAGGACGT
NM_000018.3:c.-49_-48ins15
NR_135527.1:n.114_115insACGTCCTGCACGCCC
NM_000018.3:c.-49_-48ins15

Links:

dbSNP: rs1555527399

NCBI 1000 Genomes Browser:

rs1555527399

Molecular consequence:

NM_001321074.1:c.-1088_-1087insACGTCCTGCACGCCC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001270447.2:c.132-186_132-185insGGGCGTGCAGGACGT - intron variant - [Sequence Ontology: SO:0001627]
NR_135527.1:n.114_115insACGTCCTGCACGCCC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001945966	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 31, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001945966

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Mar 31, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001945966.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Nov 18, 2024

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