U.S. flag

An official website of the United States government

NM_001032221.6(STXBP1):c.144A>C (p.Thr48=) AND not specified

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 4, 2018
Review status:
criteria provided, conflicting classifications
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:
RCV000616990.7

Allele description [Variation Report for NM_001032221.6(STXBP1):c.144A>C (p.Thr48=)]

NM_001032221.6(STXBP1):c.144A>C (p.Thr48=)

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.144A>C (p.Thr48=)
HGVS:
  • NC_000009.12:g.127653771A>C
  • NG_016623.1:g.46565A>C
  • NM_001032221.6:c.144A>CMANE SELECT
  • NM_001374306.2:c.144A>C
  • NM_001374307.2:c.102A>C
  • NM_001374308.2:c.102A>C
  • NM_001374309.2:c.102A>C
  • NM_001374310.2:c.102A>C
  • NM_001374311.2:c.102A>C
  • NM_001374312.2:c.102A>C
  • NM_001374313.2:c.144A>C
  • NM_001374314.1:c.144A>C
  • NM_001374315.2:c.144A>C
  • NM_003165.6:c.144A>C
  • NP_001027392.1:p.Thr48=
  • NP_001361235.1:p.Thr48=
  • NP_001361236.1:p.Thr34=
  • NP_001361237.1:p.Thr34=
  • NP_001361238.1:p.Thr34=
  • NP_001361239.1:p.Thr34=
  • NP_001361240.1:p.Thr34=
  • NP_001361241.1:p.Thr34=
  • NP_001361242.1:p.Thr48=
  • NP_001361243.1:p.Thr48=
  • NP_001361244.1:p.Thr48=
  • NP_003156.1:p.Thr48=
  • NC_000009.11:g.130416050A>C
  • NM_003165.3:c.144A>C
Links:
dbSNP: rs1462537561
NCBI 1000 Genomes Browser:
rs1462537561
Molecular consequence:
  • NM_001032221.6:c.144A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374306.2:c.144A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374307.2:c.102A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374308.2:c.102A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374309.2:c.102A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374310.2:c.102A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374311.2:c.102A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374312.2:c.102A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374313.2:c.144A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374314.1:c.144A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374315.2:c.144A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003165.6:c.144A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000726261GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Likely benign
(Jan 4, 2018)
germlineclinical testing

Citation Link,

SCV002071589Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Nov 3, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot 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 GeneDx, SCV000726261.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Genetic Services Laboratory, University of Chicago, SCV002071589.1

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

Last Updated: Feb 20, 2024