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NM_000424.4(KRT5):c.1392C>A (p.Asp464Glu) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 24, 2023
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:
RCV003110014.3

Allele description [Variation Report for NM_000424.4(KRT5):c.1392C>A (p.Asp464Glu)]

NM_000424.4(KRT5):c.1392C>A (p.Asp464Glu)

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.1392C>A (p.Asp464Glu)
HGVS:
  • NC_000012.12:g.52516684G>T
  • NG_008297.1:g.8776C>A
  • NG_086024.1:g.712G>T
  • NM_000424.4:c.1392C>AMANE SELECT
  • NP_000415.2:p.Asp464Glu
  • NC_000012.11:g.52910468G>T
  • NM_000424.3:c.1392C>A
Protein change:
D464E
Molecular consequence:
  • NM_000424.4:c.1392C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003761864GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jan 24, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV003761864.2

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

Description

Located in the highly conserved helix termination motif of the alpha-helical rod domain, which is intolerant to change; variants in this motif interfere with proper keratin intermediate filament assembly and function, resulting in skin fragility and/or hyperkeratosis (Chamcheu et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21176769)

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

Last Updated: Nov 11, 2023