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NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 5, 2019
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:
RCV001546059.3

Allele description [Variation Report for NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup)]

NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup)

Genes:
KRT10-AS1:KRT10 antisense RNA 1 [Gene - HGNC]
KRT10:keratin 10 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup)
HGVS:
  • NC_000017.11:g.40822514TCC[9]
  • NG_008405.1:g.5075GGA[9]
  • NM_000421.5:c.49GGA[9]MANE SELECT
  • NM_001379366.1:c.49GGA[9]
  • NP_000412.4:p.Gly24dup
  • NP_001366295.1:p.Gly24dup
  • NC_000017.10:g.38978766TCC[9]
  • NM_000421.3:c.70_72dupGGA
  • NM_000421.5:c.70_72dupMANE SELECT
Links:
dbSNP: rs148510452
NCBI 1000 Genomes Browser:
rs148510452
Molecular consequence:
  • NM_000421.5:c.49GGA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001379366.1:c.49GGA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001765509GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Nov 5, 2019) 		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, SCV001765509.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In-frame duplication of a Glycine residue in the variable head domain of keratin 10

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

Last Updated: Oct 13, 2024