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NM_004523.4(KIF11):c.2914A>G (p.Thr972Ala) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 24, 2016
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:
RCV000294255.4

Allele description [Variation Report for NM_004523.4(KIF11):c.2914A>G (p.Thr972Ala)]

NM_004523.4(KIF11):c.2914A>G (p.Thr972Ala)

Gene:
KIF11:kinesin family member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_004523.4(KIF11):c.2914A>G (p.Thr972Ala)
HGVS:
  • NC_000010.11:g.92649978A>G
  • NG_032580.1:g.61911A>G
  • NM_004523.4:c.2914A>GMANE SELECT
  • NP_004514.2:p.Thr972Ala
  • NC_000010.10:g.94409735A>G
  • NM_004523.3:c.2914A>G
Protein change:
T972A
Links:
dbSNP: rs143577999
NCBI 1000 Genomes Browser:
rs143577999
Molecular consequence:
  • NM_004523.4:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV000338078Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Likely benign
(Mar 24, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000338078.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: May 19, 2024