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NM_006772.3(SYNGAP1):c.3642del (p.Lys1215fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 13, 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:
RCV000623469.2

Allele description [Variation Report for NM_006772.3(SYNGAP1):c.3642del (p.Lys1215fs)]

NM_006772.3(SYNGAP1):c.3642del (p.Lys1215fs)

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.3642del (p.Lys1215fs)
HGVS:
  • NC_000006.12:g.33446634del
  • NG_016137.2:g.31565del
  • NM_001130066.2:c.3594del
  • NM_006772.3:c.3642delMANE SELECT
  • NP_001123538.1:p.Lys1199fs
  • NP_006763.2:p.Lys1215fs
  • LRG_1193t1:c.3642del
  • LRG_1193:g.31565del
  • LRG_1193p1:p.Lys1215fs
  • NC_000006.11:g.33414411del
  • NM_006772.2:c.3642delG
Protein change:
K1199fs
Links:
dbSNP: rs1554122710
NCBI 1000 Genomes Browser:
rs1554122710
Molecular consequence:
  • NM_001130066.2:c.3594del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006772.3:c.3642del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741675Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Jul 13, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasian/N. European/German/Russian/Norwegian/Danishgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741675.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian/N. European/German/Russian/Norwegian/Danish1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jan 7, 2023