NM_001127713.1(ATL1):c.776C>A (p.Ser259Tyr) AND Spastic paraplegia 3

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 13, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000004595.1

Allele description

NM_001127713.1(ATL1):c.776C>A (p.Ser259Tyr)

Gene:

ATL1:atlastin GTPase 1 [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.1

Genomic location:

Preferred name:

NM_001127713.1(ATL1):c.776C>A (p.Ser259Tyr)

HGVS:

NC_000014.9:g.50614425C>A
NG_009028.1:g.86344C>A
NM_001127713.1:c.776C>A
NM_015915.4:c.776C>A
NP_001121185.1:p.Ser259Tyr
NP_056999.2:p.Ser259Tyr
NC_000014.8:g.51081143C>A

Protein change:

S259Y; SER259TYR

Links:

OMIM: 606439.0002; dbSNP: rs119476047

NCBI 1000 Genomes Browser:

rs119476047

Molecular consequence:

NM_001127713.1:c.776C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Spastic paraplegia 3 (SPG3A)
Synonyms:: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1; SPG3; See all synonyms [MedGen]
Identifiers:: MedGen: C2931355; OMIM: 182600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024769	OMIM	no assertion criteria provided	Pathogenic (Oct 13, 2011)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024769

OMIM

no assertion criteria provided

Pathogenic
(Oct 13, 2011)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK.

Nat Genet. 2001 Nov;29(3):326-31.

PubMed [citation]

PMID:: 11685207

Details of each submission

From OMIM, SCV000024769.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a kindred designated ADHSP-P with early-onset autosomal dominant spastic paraplegia (182600), Zhao et al. (2001) identified heterozygosity (both C and A) at nucleotide 945 of the full-length ATL1 cDNA, corresponding to exon 8 of the gene. Unaffected members of the family had only C at this position. This mutation, TCC (ser) to TAC (tyr), was predicted to alter amino acid 259. Thus, this mutation, S259Y, is adjacent to the H258R mutation (606439.0003).

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

Last Updated: Aug 31, 2015

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