NM_006828.4(ASCC3):c.1396-3del AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Mar 24, 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:: RCV000479741.3

Allele description [Variation Report for NM_006828.4(ASCC3):c.1396-3del]

NM_006828.4(ASCC3):c.1396-3del

Gene:

ASCC3:activating signal cointegrator 1 complex subunit 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q16.3

Genomic location:

Preferred name:

NM_006828.4(ASCC3):c.1396-3del

HGVS:

NC_000006.12:g.100767357del
NM_001284271.2:c.1396-3del
NM_006828.4:c.1396-3delMANE SELECT
NC_000006.11:g.101215233del
NM_006828.2:c.1396-3delT

Links:

dbSNP: rs11345864

NCBI 1000 Genomes Browser:

rs11345864

Molecular consequence:

NM_001284271.2:c.1396-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_006828.4:c.1396-3del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000564597	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Mar 24, 2016)	germline	clinical testing	Citation Link,
SCV001743912	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000564597

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Mar 24, 2016)

germline

clinical testing

Citation Link,

SCV001743912

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Benign

germline

clinical testing

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, SCV000564597.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001743912.3

#	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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