NM_005554.3(KRT6A):c.1393T>C (p.Tyr465His) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 10, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000056992.1

Allele description

NM_005554.3(KRT6A):c.1393T>C (p.Tyr465His)

Gene:
KRT6A:keratin 6A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_005554.3(KRT6A):c.1393T>C (p.Tyr465His)
HGVS:
  • NC_000012.12:g.52488359A>G
  • NG_008298.1:g.10039T>C
  • NM_005554.3:c.1393T>C
  • NP_005545.1:p.Tyr465His
  • NC_000012.11:g.52882143A>G
  • P02538:p.Tyr465His
Protein change:
Y465H
Links:
UniProtKB: P02538#VAR_072463; dbSNP: rs267607463
NCBI 1000 Genomes Browser:
rs267607463
Molecular consequence:
  • NM_005554.3:c.1393T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000088105Epithelial Biology; Institute of Medical Biology, Singaporeno assertion providednot providednot providednot provided

SCV000566242GeneDxcriteria provided, single submitter
Pathogenic
(Apr 10, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088105.1

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

From GeneDx, SCV000566242.3

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

Description

The Y465H variant has been reported previously to co-segregate with pachyonychia congenita in one family(Bai et al., 2008). The Y465H substitution was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. It is located in the helix termination motif (2B region) of the alpha-helical roddomain of keratin 6A, a known hotspot. Another missense variant involving this residue (Y465C)and in nearby residues (E461K, I462N, I462S, A463P, T464P, L468Q, L468P, L469R, L469P, E472K,E472D) also have been published in association with pachyonychia congenita according to the Human GeneMutation Database (HGMD) (Stenson et al., 2014). Therefore, we consider Y465H in KRT6A to be apathogenic variant.

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

Last Updated: Nov 3, 2018

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