NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) AND Hereditary spastic paraplegia 9A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 22, 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:: RCV001253503.2

Allele description [Variation Report for NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys)]

NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys)

Gene:

ALDH18A1:aldehyde dehydrogenase 18 family member A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.1

Genomic location:

Preferred name:

NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys)

HGVS:

NC_000010.11:g.95621105C>T
NG_012258.1:g.40706G>A
NM_001017423.2:c.1387G>A
NM_001323412.2:c.1060G>A
NM_001323413.2:c.1393G>A
NM_001323414.2:c.1393G>A
NM_001323415.2:c.1387G>A
NM_001323416.2:c.1060G>A
NM_001323417.2:c.1288G>A
NM_001323418.2:c.1054G>A
NM_001323419.2:c.757G>A
NM_002860.4:c.1393G>AMANE SELECT
NP_001017423.1:p.Glu463Lys
NP_001310341.1:p.Glu354Lys
NP_001310342.1:p.Glu465Lys
NP_001310343.1:p.Glu465Lys
NP_001310344.1:p.Glu463Lys
NP_001310345.1:p.Glu354Lys
NP_001310346.1:p.Glu430Lys
NP_001310347.1:p.Glu352Lys
NP_001310348.1:p.Glu253Lys
NP_002851.2:p.Glu465Lys
NC_000010.10:g.97380862C>T
NC_000010.10:g.97380862C>T
NM_002860.3:c.1393G>A

Protein change:

E253K

Links:

dbSNP: rs757876226

NCBI 1000 Genomes Browser:

rs757876226

Molecular consequence:

NM_001017423.2:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323412.2:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323413.2:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323414.2:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323415.2:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323416.2:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323417.2:c.1288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323418.2:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323419.2:c.757G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002860.4:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hereditary spastic paraplegia 9A
Synonyms:: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; CATARACTS WITH MOTOR NEURONOPATHY, SHORT STATURE, AND SKELETAL ABNORMALITIES; Spastic paraplegia 9; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011006; MedGen: C5568978; Orphanet: 100990; Orphanet: 447753; OMIM: 601162

Recent activity

Clear Turn Off Turn On

MIMAG Metagenome-assembled Genome sample from Limosilactobacillus ingluviei
MIMAG Metagenome-assembled Genome sample from Limosilactobacillus ingluviei

biosample
txid148604[orgn] AND "isolate S1A St 15"[All Fields] (1)
BioSample
Limosilactobacillus ingluviei strain G29c heat shock protein 60 (groEL) gene, pa...
Limosilactobacillus ingluviei strain G29c heat shock protein 60 (groEL) gene, partial cds
gi|2317831776|gb|MZ913409.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001429239	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 22, 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

SCV001429239

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 22, 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	1	not provided	not provided	not provided	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 Human Genetics, University of Leipzig Medical Center, SCV001429239.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine