NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly) AND Autism spectrum disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 20, 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:: RCV001257614.1

Allele description [Variation Report for NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)]

NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)

Gene:

PTPN11:protein tyrosine phosphatase non-receptor type 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

Preferred name:

NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)

HGVS:

NC_000012.12:g.112450497A>G
NG_007459.1:g.36766A>G
NM_001330437.2:c.317A>G
NM_001374625.1:c.314A>G
NM_002834.5:c.317A>GMANE SELECT
NM_080601.3:c.317A>G
NP_001317366.1:p.Asp106Gly
NP_001361554.1:p.Asp105Gly
NP_002825.3:p.Asp106Gly
NP_542168.1:p.Asp106Gly
LRG_614t1:c.317A>G
LRG_614:g.36766A>G
NC_000012.11:g.112888301A>G
NM_002834.3:c.317A>G
NM_002834.4:c.317A>G

Protein change:

D105G

Links:

Molecular consequence:

NM_001330437.2:c.317A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374625.1:c.314A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002834.5:c.317A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_080601.3:c.317A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Autism spectrum disorder
Synonyms:: Autism spectrum disorders
Identifiers:: MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586

Recent activity

Clear Turn Off Turn On

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
SCV001434424	Diagnostic Laboratory, Strasbourg University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 20, 2020)	unknown	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

SCV001434424

Diagnostic Laboratory, Strasbourg University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 20, 2020)

unknown

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	unknown	yes	1	not provided	not provided	1	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 Diagnostic Laboratory, Strasbourg University Hospital, SCV001434424.1

#	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	unknown	yes	1	blood	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine