NM_001987.5(ETV6):c.1153-2_1165del AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 5, 2018
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:: RCV001817761.4

Allele description [Variation Report for NM_001987.5(ETV6):c.1153-2_1165del]

NM_001987.5(ETV6):c.1153-2_1165del

Gene:

ETV6:ETS variant transcription factor 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p13.2

Genomic location:

Preferred name:

NM_001987.5(ETV6):c.1153-2_1165del

HGVS:

NC_000012.12:g.11885924_11885938del
NG_011443.1:g.241071_241085del
NM_001987.5:c.1153-2_1165delMANE SELECT
LRG_609t1:c.1153-2_1165del
LRG_609:g.241071_241085del
NC_000012.11:g.12038858_12038872del
NM_001987.4:c.1153-2_1165del

Links:

dbSNP: rs2136602130

NCBI 1000 Genomes Browser:

rs2136602130

Molecular consequence:

NM_001987.5:c.1153-2_1165del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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myb family transcription factor APL-like [Cucurbita moschata]
myb family transcription factor APL-like [Cucurbita moschata]
gi|1279781893|ref|XP_022943792.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002069142	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 5, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002069142

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 5, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002069142.1

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

#	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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