NM_014946.4(SPAST):c.1204del (p.Thr402fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 23, 2020
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:: RCV001268406.2

Allele description [Variation Report for NM_014946.4(SPAST):c.1204del (p.Thr402fs)]

NM_014946.4(SPAST):c.1204del (p.Thr402fs)

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p22.3

Genomic location:

Preferred name:

NM_014946.4(SPAST):c.1204del (p.Thr402fs)

HGVS:

NC_000002.12:g.32128438del
NG_008730.1:g.69828del
NM_001363823.2:c.1201del
NM_001363875.2:c.1105del
NM_001377959.1:c.1108del
NM_014946.4:c.1204delMANE SELECT
NM_199436.2:c.1108del
NP_001350752.1:p.Thr401fs
NP_001350804.1:p.Thr369fs
NP_001364888.1:p.Thr370fs
NP_055761.2:p.Thr402fs
NP_955468.1:p.Thr370fs
LRG_714:g.69828del
NC_000002.11:g.32353507del

Protein change:

T369fs

Links:

dbSNP: rs1679264713

NCBI 1000 Genomes Browser:

rs1679264713

Molecular consequence:

NM_001363823.2:c.1201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363875.2:c.1105del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377959.1:c.1108del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014946.4:c.1204del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_199436.2:c.1108del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001447316	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 23, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001447316

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 23, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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	1	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001447316.1

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

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

Last Updated: Jun 23, 2024

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