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NM_001032221.6(STXBP1):c.38-3T>C AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 28, 2017
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:
RCV000713557.11

Allele description [Variation Report for NM_001032221.6(STXBP1):c.38-3T>C]

NM_001032221.6(STXBP1):c.38-3T>C

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.38-3T>C
HGVS:
  • NC_000009.12:g.127651600T>C
  • NG_016623.1:g.44394T>C
  • NM_001032221.6:c.38-3T>CMANE SELECT
  • NM_001374306.2:c.38-3T>C
  • NM_001374307.2:c.-5-3T>C
  • NM_001374308.2:c.-5-3T>C
  • NM_001374309.2:c.-5-3T>C
  • NM_001374310.2:c.-5-3T>C
  • NM_001374311.2:c.-5-3T>C
  • NM_001374312.2:c.-5-3T>C
  • NM_001374313.2:c.38-3T>C
  • NM_001374314.1:c.38-3T>C
  • NM_001374315.2:c.38-3T>C
  • NM_003165.6:c.38-3T>C
  • NC_000009.11:g.130413879T>C
  • NM_001032221.2:c.38-3T>C
  • NM_001032221.3:c.38-3T>C
  • NM_003165.3:c.38-3T>C
Links:
dbSNP: rs138763389
NCBI 1000 Genomes Browser:
rs138763389
Molecular consequence:
  • NM_001032221.6:c.38-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374306.2:c.38-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374307.2:c.-5-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374308.2:c.-5-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374309.2:c.-5-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374310.2:c.-5-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374311.2:c.-5-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374312.2:c.-5-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374313.2:c.38-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374314.1:c.38-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374315.2:c.38-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003165.6:c.38-3T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000844179Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Benign
(Sep 28, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.

Leo VC, Morgan NV, Bem D, Jones ML, Lowe GC, Lordkipanidzé M, Drake S, Simpson MA, Gissen P, Mumford A, Watson SP, Daly ME; UK GAPP Study Group..

J Thromb Haemost. 2015 Apr;13(4):643-50. doi: 10.1111/jth.12836. Epub 2015 Jan 27.

PubMed [citation]
PMID:
25556537
PMCID:
PMC4383639

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV000844179.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024