NM_014946.4(SPAST):c.1184_1186dup (p.Val395_Ala396insVal) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 1, 2024
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:: RCV003887687.8

Allele description [Variation Report for NM_014946.4(SPAST):c.1184_1186dup (p.Val395_Ala396insVal)]

NM_014946.4(SPAST):c.1184_1186dup (p.Val395_Ala396insVal)

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2p22.3

Genomic location:

Preferred name:

NM_014946.4(SPAST):c.1184_1186dup (p.Val395_Ala396insVal)

HGVS:

NC_000002.12:g.32128418_32128420dup
NG_008730.1:g.69808_69810dup
NM_001363823.2:c.1181_1183dup
NM_001363875.2:c.1085_1087dup
NM_001377959.1:c.1088_1090dup
NM_014946.4:c.1184_1186dupMANE SELECT
NM_199436.2:c.1088_1090dup
NP_001350752.1:p.Val394_Ala395insVal
NP_001350804.1:p.Val362_Ala363insVal
NP_001364888.1:p.Val363_Ala364insVal
NP_055761.2:p.Val395_Ala396insVal
NP_055761.2:p.Val395_Ala396insVal
NP_955468.1:p.Val363_Ala364insVal
LRG_714t1:c.1184_1186dup
LRG_714:g.69808_69810dup
LRG_714p1:p.Val395_Ala396insVal
NC_000002.11:g.32353487_32353489dup
NM_014946.3:c.1184_1186dup

Molecular consequence:

NM_001363823.2:c.1181_1183dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001363875.2:c.1085_1087dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001377959.1:c.1088_1090dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_014946.4:c.1184_1186dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_199436.2:c.1088_1090dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV004703960	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Feb 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004703960

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Uncertain significance
(Feb 1, 2024)

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, SCV004703960.8

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

Description

SPAST: PM1, PM2, PM4:Supporting

#	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

ClinVar

Relating variation to medicine