NM_170589.4(KNL1):c.1456G>T (p.Ala486Ser) AND not specified

Clinical significance:Benign (Last evaluated: Apr 25, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000116560.1

Allele description [Variation Report for NM_170589.4(KNL1):c.1456G>T (p.Ala486Ser)]

NM_170589.4(KNL1):c.1456G>T (p.Ala486Ser)

Gene:
KNL1:kinetochore scaffold 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_170589.4(KNL1):c.1456G>T (p.Ala486Ser)
HGVS:
  • NC_000015.10:g.40621642G>T
  • NG_033114.1:g.32394G>T
  • NM_144508.4:c.1378G>T
  • NM_170589.4:c.1456G>T
  • NP_653091.3:p.Ala460Ser
  • NP_733468.3:p.Ala486Ser
  • NC_000015.9:g.40913840G>T
  • NM_170589.3:c.1456G>T
  • Q8NG31:p.Ala486Ser
Protein change:
A460S
Links:
UniProtKB: Q8NG31#VAR_026431; dbSNP: rs2412541
GMAF:
0.3461(G), 2412541
NCBI 1000 Genomes Browser:
rs2412541
Allele Frequency:
0.8217, GO-ESP
Molecular consequence:
  • NM_170589.4:c.1456G>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
SCV000150518Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Benign
(Apr 25, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
germlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000150518.1

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

Last Updated: Jul 21, 2018