NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs) AND Intellectual disability

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 25, 2014
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:: RCV000224952.2

Allele description [Variation Report for NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs)]

NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs)

Gene:

SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

22q13.33

Genomic location:

Preferred name:

NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs)

HGVS:

NC_000022.11:g.50720742_50720757dup
NG_070230.1:g.56526_56541dup
NM_001372044.2:c.3134_3149dupMANE SELECT
NM_033517.1:c.2909_2924dup
NP_001358973.1:p.Pro1051fs
NP_277052.1:p.Pro976Argfs
NC_000022.10:g.51159170_51159185dup
g.51159168_51159183dup

Protein change:

P1051fs

Links:

dbSNP: rs1555910048

NCBI 1000 Genomes Browser:

rs1555910048

Molecular consequence:

NM_001372044.2:c.3134_3149dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033517.1:c.2909_2924dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Intellectual disability
Synonyms:: Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:: MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000281743	Diagnostic Laboratory, Strasbourg University Hospital	criteria provided, single submitter (submitter's publication)	Pathogenic (Jul 25, 2014)	de novo	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

SCV000281743

Diagnostic Laboratory, Strasbourg University Hospital

criteria provided, single submitter

(submitter's publication)

Pathogenic
(Jul 25, 2014)

de novo

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	de novo	yes	1	not provided	not provided	106	not provided	clinical testing

Citations

PubMed

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, et al.

J Med Genet. 2014 Nov;51(11):724-36. doi: 10.1136/jmedgenet-2014-102554. Epub 2014 Aug 28.

PubMed [citation]

PMID:: 25167861
PMCID:: PMC4215287

Details of each submission

From Diagnostic Laboratory, Strasbourg University Hospital, SCV000281743.1

#	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	de novo	yes	106	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 21, 2023

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