NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001507419.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile)]

NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile)

Gene:
KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile)
HGVS:
  • NC_000001.11:g.10320086C>T
  • NG_008069.1:g.114381C>T
  • NM_001365951.3:c.2159C>TMANE SELECT
  • NM_001365952.1:c.2159C>T
  • NM_015074.3:c.2021C>T
  • NP_001352880.1:p.Thr720Ile
  • NP_001352881.1:p.Thr720Ile
  • NP_055889.2:p.Thr674Ile
  • LRG_252t1:c.2021C>T
  • LRG_252t2:c.2159C>T
  • LRG_252:g.114381C>T
  • LRG_252p1:p.Thr674Ile
  • LRG_252p2:p.Thr720Ile
  • NC_000001.10:g.10380144C>T
  • p.Thr674Ile
Protein change:
T674I
Links:
dbSNP: rs41274468
NCBI 1000 Genomes Browser:
rs41274468
Molecular consequence:
  • NM_001365951.3:c.2159C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365952.1:c.2159C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015074.3:c.2021C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001712962Mayo Clinic Laboratories, Mayo Cliniccriteria provided, single submitter
Uncertain significance
(Oct 16, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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 Mayo Clinic Laboratories, Mayo Clinic, SCV001712962.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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