NM_012309.5(SHANK2):c.1896dup (p.Asp633fs) AND Autism, susceptibility to, 17

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 10, 2016
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:: RCV000209931.3

Allele description [Variation Report for NM_012309.5(SHANK2):c.1896dup (p.Asp633fs)]

NM_012309.5(SHANK2):c.1896dup (p.Asp633fs)

Gene:

SHANK2:SH3 and multiple ankyrin repeat domains 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q13.4

Genomic location:

Preferred name:

NM_012309.5(SHANK2):c.1896dup (p.Asp633fs)

HGVS:

NC_000011.10:g.70661641dup
NG_042866.1:g.468161dup
NM_001379226.1:c.759dup
NM_012309.5:c.1896dupMANE SELECT
NM_133266.5:c.132dup
NP_001366155.1:p.Asp254fs
NP_036441.2:p.Asp633fs
NP_573573.2:p.Asp45fs
NC_000011.9:g.70507746dup
NR_110766.2:n.206dup

Protein change:

D254fs

Links:

dbSNP: rs1555013332

NCBI 1000 Genomes Browser:

rs1555013332

Molecular consequence:

NM_001379226.1:c.759dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012309.5:c.1896dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133266.5:c.132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_110766.2:n.206dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Autism, susceptibility to, 17
Synonyms:: Autism 17; Autism susceptibility 17
Identifiers:: MONDO: MONDO:0013265; MedGen: C3150693; OMIM: 613436

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000265571	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha	criteria provided, single submitter (HA_assertions_20161101)	Pathogenic (Nov 10, 2016)	de novo	research	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000265571

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha

criteria provided, single submitter

(HA_assertions_20161101)

Pathogenic
(Nov 10, 2016)

de novo

research

Citation Link

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	1	not provided	research

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha, SCV000265571.4

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

Last Updated: Dec 24, 2022

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