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NM_014946.4(SPAST):c.1304_1310dup (p.Ile438fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 9, 2022
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:
RCV003482506.2

Allele description [Variation Report for NM_014946.4(SPAST):c.1304_1310dup (p.Ile438fs)]

NM_014946.4(SPAST):c.1304_1310dup (p.Ile438fs)

Gene:
SPAST:spastin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_014946.4(SPAST):c.1304_1310dup (p.Ile438fs)
HGVS:
  • NC_000002.12:g.32136621_32136627dup
  • NG_008730.1:g.78011_78017dup
  • NM_001363823.2:c.1301_1307dup
  • NM_001363875.2:c.1205_1211dup
  • NM_001377959.1:c.1208_1214dup
  • NM_014946.4:c.1304_1310dupMANE SELECT
  • NM_199436.2:c.1208_1214dup
  • NP_001350752.1:p.Ile437fs
  • NP_001350804.1:p.Ile405fs
  • NP_001364888.1:p.Ile406fs
  • NP_055761.2:p.Ile438Phefs
  • NP_055761.2:p.Ile438fs
  • NP_955468.1:p.Ile406fs
  • LRG_714t1:c.1304_1310dup
  • LRG_714:g.78011_78017dup
  • LRG_714p1:p.Ile438Phefs
  • NC_000002.11:g.32361690_32361696dup
  • NM_014946.3:c.1304_1310dup
Protein change:
I405fs
Molecular consequence:
  • NM_001363823.2:c.1301_1307dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363875.2:c.1205_1211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377959.1:c.1208_1214dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014946.4:c.1304_1310dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_199436.2:c.1208_1214dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004229189Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Aug 9, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV004229189.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant is expected to result in the loss of a functional protein. This variant has been identified in at least one individual with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024