NM_001427.4(EN2):c.686-921T>C AND Autism, susceptibility to, 10

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 1, 2005
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:: RCV000018111.4

Allele description [Variation Report for NM_001427.4(EN2):c.686-921T>C]

NM_001427.4(EN2):c.686-921T>C

Gene:

EN2:engrailed homeobox 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.3

Genomic location:

Preferred name:

NM_001427.4(EN2):c.686-921T>C

HGVS:

NC_000007.14:g.155461450T>C
NG_007124.1:g.9731T>C
NM_001427.4:c.686-921T>CMANE SELECT
NC_000007.13:g.155254145T>C

Nucleotide change:

C/T (rs1861973)

Links:

OMIM: 131310.0002; dbSNP: rs1861973

NCBI 1000 Genomes Browser:

rs1861973

Molecular consequence:

NM_001427.4:c.686-921T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Autism, susceptibility to, 10
Synonyms:: AUTS10
Identifiers:: MONDO: MONDO:0012601; MedGen: C1970242; OMIM: 611016

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038390	OMIM	no assertion criteria provided	Uncertain significance (Nov 1, 2005)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15024396, 16252243

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038390

OMIM

no assertion criteria provided

Uncertain significance
(Nov 1, 2005)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.

Gharani N, Benayed R, Mancuso V, Brzustowicz LM, Millonig JH.

Mol Psychiatry. 2004 May;9(5):474-84.

PubMed [citation]

PMID:: 15024396

Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus.

Benayed R, Gharani N, Rossman I, Mancuso V, Lazar G, Kamdar S, Bruse SE, Tischfield S, Smith BJ, Zimmerman RA, Dicicco-Bloom E, Brzustowicz LM, Millonig JH.

Am J Hum Genet. 2005 Nov;77(5):851-68. Epub 2005 Oct 5.

PubMed [citation]

PMID:: 16252243
PMCID:: PMC1271392

Details of each submission

From OMIM, SCV000038390.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

This variant, formerly titled AUTISM, ASSOCIATION WITH, 10, has been reclassified as a variant of unknown significance because its contribution to autism (611016) has not been confirmed.

See 131310.0001, Gharani et al. (2004), and Benayed et al. (2005).

#	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: May 16, 2025

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