NM_000424.4(KRT5):c.1363G>T (p.Glu455Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 27, 2018
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:: RCV000760721.1

Allele description [Variation Report for NM_000424.4(KRT5):c.1363G>T (p.Glu455Ter)]

NM_000424.4(KRT5):c.1363G>T (p.Glu455Ter)

Genes:

LOC126861525:BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 [Gene]
KRT5:keratin 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_000424.4(KRT5):c.1363G>T (p.Glu455Ter)

HGVS:

NC_000012.12:g.52516713C>A
NG_008297.1:g.8747G>T
NM_000424.4:c.1363G>TMANE SELECT
NP_000415.2:p.Glu455Ter
NC_000012.11:g.52910497C>A
NM_000424.3:c.1363G>T

Protein change:

E455*

Links:

dbSNP: rs1294665232

NCBI 1000 Genomes Browser:

rs1294665232

Molecular consequence:

NM_000424.4:c.1363G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Orchomenella cavimanus voucher RBINS:CDB OC-1909073 cytochrome oxidase subunit I...
Orchomenella cavimanus voucher RBINS:CDB OC-1909073 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial
gi|325209711|gb|HM054037.1|

Nucleotide
BX846063 Wellcome CRC pcDNAI egg Xenopus laevis cDNA clone IMAGp998B068376; IMAG...
BX846063 Wellcome CRC pcDNAI egg Xenopus laevis cDNA clone IMAGp998B068376; IMAGE:3430181 5', mRNA sequence
gi|39735724|gnl|dbEST|20902926|emb| 063.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000890613	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Sep 27, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000890613

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Sep 27, 2018)

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, SCV000890613.1

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

Description

The E455X variant in the KRT5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E455X variant is not observed in large population cohorts (Lek et al., 2016). We interpret E455X 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: Mar 26, 2023

ClinVar

Relating variation to medicine