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NM_030967.3(KRTAP1-1):c.209del (p.Cys70fs) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 25, 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:
RCV000202707.1

Allele description [Variation Report for NM_030967.3(KRTAP1-1):c.209del (p.Cys70fs)]

NM_030967.3(KRTAP1-1):c.209del (p.Cys70fs)

Gene:
KRTAP1-1:keratin associated protein 1-1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_030967.3(KRTAP1-1):c.209del (p.Cys70fs)
HGVS:
  • NC_000017.11:g.41041189del
  • NG_050762.1:g.5273del
  • NM_030967.3:c.209delMANE SELECT
  • NP_112229.1:p.Cys70fs
  • NC_000017.10:g.39197441del
  • NM_030967.2:c.209delG
Protein change:
C70fs
Links:
dbSNP: rs751890300
NCBI 1000 Genomes Browser:
rs751890300
Molecular consequence:
  • NM_030967.3:c.209del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000258209Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(DGD Variant Analysis Guidelines)		Benign
(Jun 25, 2015) 		unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

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Summary from all submissions

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

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000258209.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023