NM_015915.5(ATL1):c.488T>C (p.Val163Ala) AND Hereditary spastic paraplegia 3A

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 28, 2019
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:
RCV000989218.2

Allele description [Variation Report for NM_015915.5(ATL1):c.488T>C (p.Val163Ala)]

NM_015915.5(ATL1):c.488T>C (p.Val163Ala)

Gene:
ATL1:atlastin GTPase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q22.1
Genomic location:
Preferred name:
NM_015915.5(ATL1):c.488T>C (p.Val163Ala)
HGVS:
  • NC_000014.9:g.50591605T>C
  • NG_009028.1:g.63524T>C
  • NM_001127713.1:c.488T>C
  • NM_015915.4:c.488T>C
  • NM_015915.5:c.488T>CMANE SELECT
  • NM_181598.4:c.488T>C
  • NP_001121185.1:p.Val163Ala
  • NP_056999.2:p.Val163Ala
  • NP_853629.2:p.Val163Ala
  • LRG_360t1:c.488T>C
  • LRG_360t2:c.488T>C
  • LRG_360:g.63524T>C
  • LRG_360p2:p.Val163Ala
  • NC_000014.8:g.51058323T>C
Protein change:
V163A
Links:
dbSNP: rs1595600383
NCBI 1000 Genomes Browser:
rs1595600383
Molecular consequence:
  • NM_001127713.1:c.488T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015915.5:c.488T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181598.4:c.488T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001139447Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link,

SCV004011954Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature only

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
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, et al.

Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.018. Epub 2013 May 9.

PubMed [citation]
PMID:
23664120
PMCID:
PMC3675232

Details of each submission

From Mendelics, SCV001139447.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004011954.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 16, 2023