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NM_014231.5(VAMP1):c.65del (p.Pro22fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 10, 2015
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:
RCV000362183.4

Allele description [Variation Report for NM_014231.5(VAMP1):c.65del (p.Pro22fs)]

NM_014231.5(VAMP1):c.65del (p.Pro22fs)

Genes:
TAPBPL:TAP binding protein like [Gene - OMIM - HGNC]
VAMP1:vesicle associated membrane protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_014231.5(VAMP1):c.65del (p.Pro22fs)
HGVS:
  • NC_000012.12:g.6466293del
  • NG_042188.1:g.9611del
  • NM_001297438.2:c.65del
  • NM_014231.5:c.65delMANE SELECT
  • NM_016830.4:c.65del
  • NM_199245.3:c.65del
  • NP_001284367.1:p.Pro22fs
  • NP_055046.1:p.Pro22fs
  • NP_058439.1:p.Pro22fs
  • NP_954740.1:p.Pro22fs
  • NC_000012.11:g.6575455del
  • NC_000012.11:g.6575459del
Protein change:
P22fs
Links:
dbSNP: rs886042861
NCBI 1000 Genomes Browser:
rs886042861
Molecular consequence:
  • NM_001297438.2:c.65del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014231.5:c.65del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_016830.4:c.65del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_199245.3:c.65del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000337006Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Nov 10, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Eurofins Ntd Llc (ga), SCV000337006.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024