NM_006772.3(SYNGAP1):c.3672del (p.Ser1225fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 1, 2021
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:: RCV001727359.17

Allele description [Variation Report for NM_006772.3(SYNGAP1):c.3672del (p.Ser1225fs)]

NM_006772.3(SYNGAP1):c.3672del (p.Ser1225fs)

Genes:

SYNGAP1-AS1:SYNGAP1 antisense RNA 1 [Gene - HGNC]
SYNGAP1:synaptic Ras GTPase activating protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p21.32

Genomic location:

Preferred name:

NM_006772.3(SYNGAP1):c.3672del (p.Ser1225fs)

HGVS:

NC_000006.12:g.33446664del
NG_016137.2:g.31595del
NM_001130066.2:c.3624del
NM_006772.3:c.3672delMANE SELECT
NP_001123538.1:p.Ser1209fs
NP_006763.2:p.Ser1225fs
LRG_1193t1:c.3672del
LRG_1193:g.31595del
LRG_1193p1:p.Ser1225fs
NC_000006.11:g.33414441del

Protein change:

S1209fs

Links:

dbSNP: rs2151199493

NCBI 1000 Genomes Browser:

rs2151199493

Molecular consequence:

NM_001130066.2:c.3624del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006772.3:c.3672del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001961956	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Sep 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001961956

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Likely pathogenic
(Sep 1, 2021)

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, SCV001961956.17

#	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: Jul 15, 2024

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