NM_182643.3(DLC1):c.3740+31_3740+32del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: May 11, 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:: RCV001611071.3

Allele description [Variation Report for NM_182643.3(DLC1):c.3740+31_3740+32del]

NM_182643.3(DLC1):c.3740+31_3740+32del

Gene:

DLC1:DLC1 Rho GTPase activating protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8p22

Genomic location:

Preferred name:

NM_182643.3(DLC1):c.3740+31_3740+32del

HGVS:

NC_000008.11:g.13092580_13092581del
NG_015998.2:g.517025_517026del
NM_001164271.2:c.2207+31_2207+32del
NM_001316668.2:c.2531+31_2531+32del
NM_001348081.2:c.3740+31_3740+32del
NM_001348082.2:c.2207+31_2207+32del
NM_001348083.1:c.2207+31_2207+32del
NM_001348084.2:c.2207+31_2207+32del
NM_006094.5:c.2429+31_2429+32del
NM_182643.3:c.3740+31_3740+32delMANE SELECT
NC_000008.10:g.12950089_12950090del

Links:

dbSNP: rs34094992

NCBI 1000 Genomes Browser:

rs34094992

Molecular consequence:

NM_001164271.2:c.2207+31_2207+32del - intron variant - [Sequence Ontology: SO:0001627]
NM_001316668.2:c.2531+31_2531+32del - intron variant - [Sequence Ontology: SO:0001627]
NM_001348081.2:c.3740+31_3740+32del - intron variant - [Sequence Ontology: SO:0001627]
NM_001348082.2:c.2207+31_2207+32del - intron variant - [Sequence Ontology: SO:0001627]
NM_001348083.1:c.2207+31_2207+32del - intron variant - [Sequence Ontology: SO:0001627]
NM_001348084.2:c.2207+31_2207+32del - intron variant - [Sequence Ontology: SO:0001627]
NM_006094.5:c.2429+31_2429+32del - intron variant - [Sequence Ontology: SO:0001627]
NM_182643.3:c.3740+31_3740+32del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001832626	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (May 11, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001832626

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(May 11, 2021)

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, SCV001832626.1

#	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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