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NM_015915.5(ATL1):c.1511del (p.Gly504fs) AND Hereditary spastic paraplegia 3A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 11, 2016
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:
RCV000761255.1

Allele description [Variation Report for NM_015915.5(ATL1):c.1511del (p.Gly504fs)]

NM_015915.5(ATL1):c.1511del (p.Gly504fs)

Gene:
ATL1:atlastin GTPase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q22.1
Genomic location:
Preferred name:
NM_015915.5(ATL1):c.1511del (p.Gly504fs)
HGVS:
  • NC_000014.9:g.50628422del
  • NG_009028.1:g.100341del
  • NM_001127713.1:c.1511del
  • NM_015915.5:c.1511delMANE SELECT
  • NM_181598.4:c.1511del
  • NP_001121185.1:p.Gly504fs
  • NP_056999.2:p.Gly504fs
  • NP_853629.2:p.Gly504fs
  • LRG_360t2:c.1511del
  • LRG_360:g.100341del
  • LRG_360p2:p.Gly504fs
  • NC_000014.8:g.51095140del
  • NM_015915.4:c.1511delG
  • p.Gly504GlufsX3
Protein change:
G504fs
Links:
dbSNP: rs1566735903
NCBI 1000 Genomes Browser:
rs1566735903
Molecular consequence:
  • NM_001127713.1:c.1511del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015915.5:c.1511del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181598.4:c.1511del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Hereditary spastic paraplegia 3A (SPG3A)
Synonyms:
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1; SPG3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008437; MedGen: C2931355; Orphanet: 100984; OMIM: 182600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000891212Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 11, 2016) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Hereditary spastic paraplegias: an update.

Depienne C, Stevanin G, Brice A, Durr A.

Curr Opin Neurol. 2007 Dec;20(6):674-80. Review.

PubMed [citation]
PMID:
17992088

SPG3A: An additional family carrying a new atlastin mutation.

Tessa A, Casali C, Damiano M, Bruno C, Fortini D, Patrono C, Cricchi F, Valoppi M, Nappi G, Amabile GA, Bertini E, Santorelli FM.

Neurology. 2002 Dec 24;59(12):2002-5.

PubMed [citation]
PMID:
12499504
See all PubMed Citations (3)

Details of each submission

From Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000891212.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022