NM_015074.3(KIF1B):c.1977+6360G>T AND not specified

Clinical significance:Benign (Last evaluated: Feb 13, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000202848.4

Allele description [Variation Report for NM_015074.3(KIF1B):c.1977+6360G>T]

NM_015074.3(KIF1B):c.1977+6360G>T

Gene:
KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_015074.3(KIF1B):c.1977+6360G>T
HGVS:
  • NC_000001.11:g.10303606G>T
  • NG_008069.1:g.97901G>T
  • NM_001365951.2:c.2115+6360G>T
  • NM_001365952.1:c.2115+6360G>T
  • NM_001365953.1:c.2421G>T
  • NM_015074.3:c.1977+6360G>T
  • NM_183416.4:c.2421G>T
  • NP_001352882.1:p.Met807Ile
  • NP_904325.2:p.Met807Ile
  • LRG_252t1:c.1977+6360G>T
  • LRG_252:g.97901G>T
  • NC_000001.10:g.10363664G>T
  • NM_183416.3:c.2421G>T
Protein change:
M807I
Links:
dbSNP: rs41274458
NCBI 1000 Genomes Browser:
rs41274458
Molecular consequence:
  • NM_001365951.2:c.2115+6360G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365952.1:c.2115+6360G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015074.3:c.1977+6360G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365953.1:c.2421G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183416.4:c.2421G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000258273Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Benign
(Feb 13, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx,

Citation Link,

SCV001919203Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000258273.2

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

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001919203.1

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

Last Updated: Sep 24, 2021

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