NM_006579.3(EBP):c.-44_-43dup AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 23, 2019
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:: RCV001678827.1

Allele description [Variation Report for NM_006579.3(EBP):c.-44_-43dup]

NM_006579.3(EBP):c.-44_-43dup

Gene:

EBP:EBP cholestenol delta-isomerase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

NM_006579.3(EBP):c.-44_-43dup

HGVS:

NC_000023.11:g.48523728_48523729dup
NG_007452.1:g.6953_6954dup
NM_006579.3:c.-44_-43dupMANE SELECT
NC_000023.10:g.48382116_48382117dup

Links:

dbSNP: rs782299900

NCBI 1000 Genomes Browser:

rs782299900

Molecular consequence:

NM_006579.3:c.-44_-43dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Taxonomy Links for Protein (Select 343780862) (1)
Taxonomy
OMIM Links for Protein (Select 343780862) (0)
OMIM
Staphylococcus epidermidis strain A9 NODE_141_length_463_cov_1.09821_ID_3991, wh...
Staphylococcus epidermidis strain A9 NODE_141_length_463_cov_1.09821_ID_3991, whole genome shotgun sequence
gi|1590214386|ref|NZ_SCHF01000141.1 |WGS:NZ_SCHF01|NODE_141_length_463_cov_1.09821_ID_3991

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001904541	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Aug 23, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001904541

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Aug 23, 2019)

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, SCV001904541.1

#	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: Dec 24, 2023

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