NM_014946.4(SPAST):c.1253_1255del (p.Glu418del) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2017
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:: RCV001091360.22

Allele description [Variation Report for NM_014946.4(SPAST):c.1253_1255del (p.Glu418del)]

NM_014946.4(SPAST):c.1253_1255del (p.Glu418del)

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p22.3

Genomic location:

Preferred name:

NM_014946.4(SPAST):c.1253_1255del (p.Glu418del)

HGVS:

NC_000002.12:g.32136570_32136572del
NG_008730.1:g.77960_77962del
NM_001363823.2:c.1250_1252del
NM_001363875.2:c.1154_1156del
NM_001377959.1:c.1157_1159del
NM_014946.4:c.1253_1255delMANE SELECT
NM_199436.2:c.1157_1159del
NP_001350752.1:p.Glu417del
NP_001350804.1:p.Glu385del
NP_001364888.1:p.Glu386del
NP_055761.2:p.Glu418del
NP_055761.2:p.Glu418del
NP_955468.1:p.Glu386del
LRG_714t1:c.1253_1255del
LRG_714:g.77960_77962del
LRG_714p1:p.Glu418del
NC_000002.11:g.32361637_32361639del
NC_000002.11:g.32361639_32361641del
NM_014946.3:c.1253_1255del

Protein change:

E385del

Links:

dbSNP: rs1558336544

NCBI 1000 Genomes Browser:

rs1558336544

Molecular consequence:

NM_001363823.2:c.1250_1252del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001363875.2:c.1154_1156del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001377959.1:c.1157_1159del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_014946.4:c.1253_1255del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_199436.2:c.1157_1159del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

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
SCV001247357	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Apr 1, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001247357

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Apr 1, 2017)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001247357.26

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

Last Updated: Oct 20, 2024

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