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NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu) AND Developmental and epileptic encephalopathy, 4

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 14, 2020
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:
RCV001089744.1

Allele description [Variation Report for NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu)]

NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu)

Gene:
STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu)
HGVS:
  • NC_000009.12:g.127675910G>T
  • NG_016623.1:g.68704G>T
  • NM_001032221.6:c.1217G>TMANE SELECT
  • NM_001374306.2:c.1208G>T
  • NM_001374307.2:c.1175G>T
  • NM_001374308.2:c.1175G>T
  • NM_001374309.2:c.1175G>T
  • NM_001374310.2:c.1175G>T
  • NM_001374311.2:c.1175G>T
  • NM_001374312.2:c.1175G>T
  • NM_001374313.2:c.1217G>T
  • NM_001374314.1:c.1217G>T
  • NM_001374315.2:c.1109G>T
  • NM_003165.6:c.1217G>T
  • NP_001027392.1:p.Arg406Leu
  • NP_001361235.1:p.Arg403Leu
  • NP_001361236.1:p.Arg392Leu
  • NP_001361237.1:p.Arg392Leu
  • NP_001361238.1:p.Arg392Leu
  • NP_001361239.1:p.Arg392Leu
  • NP_001361240.1:p.Arg392Leu
  • NP_001361241.1:p.Arg392Leu
  • NP_001361242.1:p.Arg406Leu
  • NP_001361243.1:p.Arg406Leu
  • NP_001361244.1:p.Arg370Leu
  • NP_003156.1:p.Arg406Leu
  • NP_003156.1:p.Arg406Leu
  • NC_000009.11:g.130438189G>T
  • NM_003165.3:c.1217G>T
  • NM_003165.4:c.1217G>T
  • p.Arg406Leu
Protein change:
R370L
Links:
dbSNP: rs886041246
NCBI 1000 Genomes Browser:
rs886041246
Molecular consequence:
  • NM_001032221.6:c.1217G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374306.2:c.1208G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374307.2:c.1175G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374308.2:c.1175G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374309.2:c.1175G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374310.2:c.1175G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374311.2:c.1175G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374312.2:c.1175G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374313.2:c.1217G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374314.1:c.1217G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374315.2:c.1109G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003165.6:c.1217G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 4 (DEE4)
Synonyms:
Early infantile epileptic encephalopathy 4; STXBP1-Related Epileptic Encephalopathy
Identifiers:
MONDO: MONDO:0012812; MedGen: C2677326; Orphanet: 1934; Orphanet: 33069; OMIM: 612164

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245231Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 14, 2020) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV001245231.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023