NM_005554.4(KRT6A):c.529_531del (p.Phe177del) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 26, 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:: RCV000483766.1

Allele description [Variation Report for NM_005554.4(KRT6A):c.529_531del (p.Phe177del)]

NM_005554.4(KRT6A):c.529_531del (p.Phe177del)

Gene:

KRT6A:keratin 6A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_005554.4(KRT6A):c.529_531del (p.Phe177del)

HGVS:

NC_000012.12:g.52492659_52492661del
NG_008298.1:g.5738_5740del
NM_005554.4:c.529_531delMANE SELECT
NP_005545.1:p.Phe177del
LRG_1294t1:c.529_531del
LRG_1294:g.5738_5740del
LRG_1294p1:p.Phe177del
NC_000012.11:g.52886443_52886445del
NM_005554.3:c.529_531delTTC

Protein change:

F177del

Links:

dbSNP: rs1064793417

NCBI 1000 Genomes Browser:

rs1064793417

Molecular consequence:

NM_005554.4:c.529_531del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000566072	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 26, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000566072

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 26, 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

Details of each submission

From GeneDx, SCV000566072.4

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

Description

The c.529_531delTTC deletion in the KRT6A gene causes an in-frame deletion of a single amino acid,denoted p.Phe177del, in the highly conserved helix initiation motif of the central rod domain of keratin 6A.Another in-frame deletion (p.Asn172del) nearby is one of the most common recurrent variants in KRT6Acausing pachyonychia congenita (Stenson et al., 2014). In addition, c.529_531delTTC was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. In summary, c.529_531delTTC isinterpreted as a pathogenic variant.

#	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: Apr 23, 2022

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