NM_001130438.3(SPTAN1):c.5833-216del AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 15, 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:: RCV001725104.1

Allele description

NM_001130438.3(SPTAN1):c.5833-216del

Gene:

SPTAN1:spectrin alpha, non-erythrocytic 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001130438.3(SPTAN1):c.5833-216del

HGVS:

NC_000009.12:g.128624112del
NG_027748.1:g.76555del
NM_001130438.3:c.5833-216delMANE SELECT
NM_001195532.2:c.5758-216del
NM_001363759.2:c.5833-216del
NM_001363765.2:c.5773-216del
NM_001375310.1:c.5833-216del
NM_001375311.2:c.5833-216del
NM_001375312.2:c.5869-216del
NM_001375313.1:c.5833-216del
NM_001375314.2:c.5773-216del
NM_001375318.1:c.5869-216del
NM_003127.4:c.5818-216del
NC_000009.11:g.131386391del

Molecular consequence:

NM_001130438.3:c.5833-216del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195532.2:c.5758-216del - intron variant - [Sequence Ontology: SO:0001627]
NM_001363759.2:c.5833-216del - intron variant - [Sequence Ontology: SO:0001627]
NM_001363765.2:c.5773-216del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375310.1:c.5833-216del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375311.2:c.5833-216del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375312.2:c.5869-216del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375313.1:c.5833-216del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375314.2:c.5773-216del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375318.1:c.5869-216del - intron variant - [Sequence Ontology: SO:0001627]
NM_003127.4:c.5818-216del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001950901	GeneDx	criteria provided, single submitter (GeneDX Variant Classification (06012015))	Benign (Aug 15, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001950901

GeneDx

criteria provided, single submitter

(GeneDX Variant Classification (06012015))

Benign
(Aug 15, 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, SCV001950901.1

#	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: Apr 23, 2022

ClinVar

Relating variation to medicine