NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 13, 2015
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:: RCV000057022.2

Allele description [Variation Report for NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys)]

NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys)

Gene:

KRT6B:keratin 6B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys)

HGVS:

NC_000012.12:g.52447821C>T
NG_008299.1:g.9306G>A
NM_005555.4:c.1381G>AMANE SELECT
NP_005546.2:p.Glu461Lys
NC_000012.11:g.52841605C>T
NM_005555.3:c.1381G>A

Protein change:

E461K

Links:

dbSNP: rs267607473

NCBI 1000 Genomes Browser:

rs267607473

Molecular consequence:

NM_005555.4:c.1381G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000088135	Epithelial Biology; Institute of Medical Biology, Singapore	no classification provided	not provided	not provided	not provided
SCV000321845	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 13, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000088135

Epithelial Biology; Institute of Medical Biology, Singapore

no classification provided

not provided

SCV000321845

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 13, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088135.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV000321845.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The E461K variant in the KRT6B gene has been reported in association with pachyonychia congenita (Wilson et al., 2011). The E461K variant 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 benign variant in these populations. The E461K variant is a non-conservative amino acid substitution that occurs at a position that is conserved across species. In silico analysis predicts this substitution is probably damaging to the protein structure/function.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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