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NM_000424.4(KRT5):c.1278_1289dup (p.Lys426_Arg429dup) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 20, 2017
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:
RCV000520096.1

Allele description [Variation Report for NM_000424.4(KRT5):c.1278_1289dup (p.Lys426_Arg429dup)]

NM_000424.4(KRT5):c.1278_1289dup (p.Lys426_Arg429dup)

Genes:
LOC126861525:BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 [Gene]
KRT5:keratin 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000424.4(KRT5):c.1278_1289dup (p.Lys426_Arg429dup)
HGVS:
  • NC_000012.12:g.52516789_52516800dup
  • NG_008297.1:g.8662_8673dup
  • NM_000424.4:c.1278_1289dupMANE SELECT
  • NP_000415.2:p.Lys426_Arg429dup
  • NC_000012.11:g.52910573_52910584dup
  • NM_000424.3:c.1278_1289dupGGATGCCAGGAA
Links:
dbSNP: rs1555156102
NCBI 1000 Genomes Browser:
rs1555156102
Molecular consequence:
  • NM_000424.4:c.1278_1289dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000621160GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 20, 2017) 		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, SCV000621160.2

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

Description

The c.1278_1289dup12 variant in the KRT5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes an in-frame duplication of 4 amino acids starting with codon Lysine 426, and continuing through residue Arginine 429, denoted p.Lys426_Arg429dup. The c.1278_1289dup12 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1278_1289dup12 variant is located within the 2B region of the rod domain of the keratin 5 protein and may affect association and winding of the keratin proteins. Using the ACMG diagnostic criteria we interpret c.1278_1289dup12 as a variant of uncertain significance.

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

Last Updated: Mar 26, 2023