NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Apr 15, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000236491.6

Allele description [Variation Report for NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)]

NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)

Gene:
KIF1A:kinesin family member 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)
HGVS:
  • NC_000002.12:g.240783777G>A
  • NG_029724.1:g.41431C>T
  • NM_001244008.1:c.760C>T
  • NM_001244008.2:c.760C>TMANE SELECT
  • NM_001320705.2:c.760C>T
  • NM_001330289.2:c.760C>T
  • NM_001330290.2:c.760C>T
  • NM_001379631.1:c.760C>T
  • NM_001379632.1:c.760C>T
  • NM_001379633.1:c.760C>T
  • NM_001379634.1:c.760C>T
  • NM_001379635.1:c.760C>T
  • NM_001379636.1:c.760C>T
  • NM_001379637.1:c.760C>T
  • NM_001379638.1:c.760C>T
  • NM_001379639.1:c.760C>T
  • NM_001379640.1:c.760C>T
  • NM_001379641.1:c.760C>T
  • NM_001379642.1:c.760C>T
  • NM_001379645.1:c.760C>T
  • NM_001379646.1:c.760C>T
  • NM_001379648.1:c.760C>T
  • NM_001379649.1:c.760C>T
  • NM_001379650.1:c.760C>T
  • NM_001379651.1:c.760C>T
  • NM_001379653.1:c.760C>T
  • NM_004321.7:c.760C>T
  • NM_004321.8:c.760C>T
  • NP_001230937.1:p.Arg254Trp
  • NP_001230937.1:p.Arg254Trp
  • NP_001307634.1:p.Arg254Trp
  • NP_001317218.1:p.Arg254Trp
  • NP_001317219.1:p.Arg254Trp
  • NP_001366560.1:p.Arg254Trp
  • NP_001366561.1:p.Arg254Trp
  • NP_001366562.1:p.Arg254Trp
  • NP_001366563.1:p.Arg254Trp
  • NP_001366564.1:p.Arg254Trp
  • NP_001366565.1:p.Arg254Trp
  • NP_001366566.1:p.Arg254Trp
  • NP_001366567.1:p.Arg254Trp
  • NP_001366568.1:p.Arg254Trp
  • NP_001366569.1:p.Arg254Trp
  • NP_001366570.1:p.Arg254Trp
  • NP_001366571.1:p.Arg254Trp
  • NP_001366574.1:p.Arg254Trp
  • NP_001366575.1:p.Arg254Trp
  • NP_001366577.1:p.Arg254Trp
  • NP_001366578.1:p.Arg254Trp
  • NP_001366579.1:p.Arg254Trp
  • NP_001366580.1:p.Arg254Trp
  • NP_001366582.1:p.Arg254Trp
  • NP_004312.2:p.Arg254Trp
  • NP_004312.2:p.Arg254Trp
  • LRG_367t1:c.760C>T
  • LRG_367t2:c.760C>T
  • LRG_367:g.41431C>T
  • LRG_367p1:p.Arg254Trp
  • LRG_367p2:p.Arg254Trp
  • NC_000002.11:g.241723194G>A
  • NM_004321.5:c.760C>T
  • NM_004321.6:c.760C>T
  • NM_001224008.1:c.760C>T
Protein change:
R254W; ARG254TRP
Links:
OMIM: 601255.0012; dbSNP: rs879253888
NCBI 1000 Genomes Browser:
rs879253888
Molecular consequence:
  • NM_001244008.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001244008.2:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320705.2:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330289.2:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330290.2:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379631.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379632.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379633.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379634.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379635.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379636.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379637.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379638.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379639.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379640.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379641.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379642.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379645.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379646.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379648.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379649.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379650.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379651.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379653.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004321.7:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004321.8:c.760C>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
SCV000292595GeneDxcriteria provided, single submitter
Pathogenic
(Apr 15, 2021)
germlineclinical testing

Citation Link,

SCV000700740EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Jun 8, 2017)
germlineclinical testing

Citation Link,

SCV001446534Institute of Medical Genetics and Applied Genomics, University Hospital Tübingencriteria provided, single submitter
Likely pathogenic
(Oct 23, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot provided1not providedclinical testing
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 GeneDx, SCV000292595.11

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32096284, 33619735, 30612907, 30564185, 28332297, 26354034)

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000700740.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001446534.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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