NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 26, 2021
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:: RCV001420233.1

Allele description [Variation Report for NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])]

NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])

Gene:

AUTS2:activator of transcription and developmental regulator AUTS2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q11.22

Genomic location:

Preferred name:

NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])

HGVS:

NC_000007.14:g.70766248_70766271del
NG_034133.1:g.1172330_1172353del
NM_001127231.3:c.1603_1626del
NM_015570.2:c.1603_1626del
NM_015570.4:c.1603_1626delMANE SELECT
NP_001120703.1:p.531HQHT[1]
NP_056385.1:p.531HQHT[1]
NC_000007.13:g.70231221_70231244del
NC_000007.13:g.70231234_70231257del
NM_015570.2:c.1603_1626del
NM_015570.2:c.1603_1626del24
NM_015570.2:c.1603_1626del24
NM_015570.2:c.1603_1626delCACCAGCACACGCACCAGCACACC
NM_015570.3:c.1603_1626del
NM_015570.3:c.1603_1626delCACCAGCACACGCACCAGCACACC
NM_015570.4:c.1603_1626del

Links:

dbSNP: rs1789934246

NCBI 1000 Genomes Browser:

rs1789934246

Molecular consequence:

NM_001127231.3:c.1603_1626del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_015570.4:c.1603_1626del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001622653	Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	criteria provided, single submitter (Parc Tauli Hospital Assertion Criteria 2021)	Pathogenic (Apr 26, 2021)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001622653

Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli

criteria provided, single submitter

(Parc Tauli Hospital Assertion Criteria 2021)

Pathogenic
(Apr 26, 2021)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli, SCV001622653.1

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

Description

PS3_strong;PM1_moderate;PM2_supporting;PM4_moderate;PM6_moderate;PP3_supporting

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

Last Updated: May 1, 2024

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