NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr) AND Autism

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 1, 2013
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:: RCV000194309.1

Allele description [Variation Report for NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr)]

NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr)

Genes:

ALDH1A3-AS1:ALDH1A3 antisense RNA 1 [Gene - HGNC]
ALDH1A3:aldehyde dehydrogenase 1 family member A3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.3

Genomic location:

Preferred name:

NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr)

HGVS:

NC_000015.10:g.100914748T>C
NG_012254.1:g.39945T>C
NG_052791.1:g.732T>C
NM_000693.4:c.1514T>CMANE SELECT
NM_001293815.2:c.1193T>C
NP_000684.2:p.Ile505Thr
NP_001280744.1:p.Ile398Thr
NC_000015.9:g.101454953T>C
NR_135828.1:n.1713A>G
NR_135831.1:n.2629A>G

Protein change:

I398T

Links:

dbSNP: rs797046134

NCBI 1000 Genomes Browser:

rs797046134

Molecular consequence:

NM_000693.4:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293815.2:c.1193T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_135828.1:n.1713A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135831.1:n.2629A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Autism (AUTS)
Synonyms:: Autistic disorder; Autistic disorder of childhood onset
Identifiers:: MONDO: MONDO:0005260; MeSH: D001321; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000249556	Laboratorio de Genetica Humana; Universidad de los Andes	no assertion criteria provided	Likely pathogenic (Oct 1, 2013)	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000249556

Laboratorio de Genetica Humana; Universidad de los Andes

no assertion criteria provided

Likely pathogenic
(Oct 1, 2013)

de novo

research

Description

De novo novel variant using whole exome sequencing in an ASD study in Colombian population: SCV000249556

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Laboratorio de Genetica Humana; Universidad de los Andes, SCV000249556.1

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

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

Last Updated: Jun 9, 2024

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