NM_012309.5(SHANK2):c.5008_5010delinsTGGA (p.Gly1670fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 1, 2019
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:: RCV002275969.16

Allele description [Variation Report for NM_012309.5(SHANK2):c.5008_5010delinsTGGA (p.Gly1670fs)]

NM_012309.5(SHANK2):c.5008_5010delinsTGGA (p.Gly1670fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

11q13.3

Genomic location:

Preferred name:

NM_012309.5(SHANK2):c.5008_5010delinsTGGA (p.Gly1670fs)

HGVS:

NC_000011.10:g.70473409_70473411delinsTCCA
NG_042866.1:g.656386_656388delinsTGGA
NM_001379226.1:c.3871_3873delinsTGGA
NM_012309.5:c.5008_5010delinsTGGAMANE SELECT
NM_133266.5:c.3244_3246delinsTGGA
NP_001366155.1:p.Gly1291fs
NP_036441.2:p.Gly1670fs
NP_573573.2:p.Gly1082fs
NC_000011.9:g.70319514_70319516delinsTCCA
NR_110766.2:n.863_865delinsTGGA

Protein change:

G1082fs

Links:

dbSNP: rs2135665081

NCBI 1000 Genomes Browser:

rs2135665081

Molecular consequence:

NM_001379226.1:c.3871_3873delinsTGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012309.5:c.5008_5010delinsTGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133266.5:c.3244_3246delinsTGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NR_110766.2:n.863_865delinsTGGA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002563075	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Apr 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002563075

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Apr 1, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002563075.16

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

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

Last Updated: Oct 20, 2024

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