NM_000016.6(ACADM):c.388-12_388-10del AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 2, 2015
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:: RCV000077888.5

Allele description

NM_000016.6(ACADM):c.388-12_388-10del

Gene:

ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p31.1

Genomic location:

Preferred name:

NM_000016.6(ACADM):c.388-12_388-10del

HGVS:

NC_000001.11:g.75734779_75734781del
NG_007045.2:g.15422_15424del
NM_000016.6:c.388-12_388-10delMANE SELECT
NM_001127328.3:c.400-12_400-10del
NM_001286042.2:c.280-12_280-10del
NM_001286043.2:c.487-12_487-10del
NM_001286044.2:c.-100+1857_-100+1859del
LRG_838:g.15422_15424del
NC_000001.10:g.76200464_76200466del
NM_000016.4:c.388-12_388-10delTTT

Links:

dbSNP: rs398123076

NCBI 1000 Genomes Browser:

rs398123076

Molecular consequence:

NM_000016.6:c.388-12_388-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001127328.3:c.400-12_400-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001286042.2:c.280-12_280-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001286043.2:c.487-12_487-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001286044.2:c.-100+1857_-100+1859del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Identifiers:: MedGen: CN517202

Recent activity

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alive[prop] NOT newentry[title] AND txid1327987 AND (alive[prop]) (13)
Gene
Mus musculus WD repeat domain 33 (Wdr33), transcript variant 4, mRNA
Mus musculus WD repeat domain 33 (Wdr33), transcript variant 4, mRNA
gi|284005131|ref|NM_001170966.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109717	EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Oct 2, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000109717

EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Oct 2, 2015)

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	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000109717.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Oct 25, 2021

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