NM_000421.5(KRT10):c.1459_1460insGGCGGCGGCT (p.His487fs) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001529894.3

Allele description [Variation Report for NM_000421.5(KRT10):c.1459_1460insGGCGGCGGCT (p.His487fs)]

NM_000421.5(KRT10):c.1459_1460insGGCGGCGGCT (p.His487fs)

Gene:

KRT10:keratin 10 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_000421.5(KRT10):c.1459_1460insGGCGGCGGCT (p.His487fs)

HGVS:

NC_000017.11:g.40819075_40819076insAGCCGCCGCC
NG_008405.1:g.8536_8537insGGCGGCGGCT
NM_000421.5:c.1459_1460insGGCGGCGGCTMANE SELECT
NM_001379366.1:c.1459_1460insGGCGGCGGCT
NP_000412.4:p.His487fs
NP_001366295.1:p.His487fs
NC_000017.10:g.38975327_38975328insAGCCGCCGCC

Protein change:

H487fs

Links:

dbSNP: rs764791942

NCBI 1000 Genomes Browser:

rs764791942

Molecular consequence:

NM_000421.5:c.1459_1460insGGCGGCGGCT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001379366.1:c.1459_1460insGGCGGCGGCT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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MAG: Candidatus Electrothrix sp. AX1, whole genome shotgun sequencing project
MAG: Candidatus Electrothrix sp. AX1, whole genome shotgun sequencing project
gi|2214681523|gb|QYLI00000000.1|QYL 0000

Nucleotide
Methyltransferase FkbM domain-containing protein [Caenorhabditis elegans]
Methyltransferase FkbM domain-containing protein [Caenorhabditis elegans]
gi|453229919|ref|NP_493142.2|

Protein
Caenorhabditis elegans Tyrosine-protein phosphatase domain-containing protein (M...
Caenorhabditis elegans Tyrosine-protein phosphatase domain-containing protein (M05B5.1), partial mRNA
gi|1734317719|ref|NM_059629.2|

Nucleotide
Serpentine Receptor, class H [Caenorhabditis elegans]
Serpentine Receptor, class H [Caenorhabditis elegans]
gi|17563356|ref|NP_503204.1|

Protein
Caenorhabditis elegans F-box domain-containing protein (F37D6.4), mRNA
Caenorhabditis elegans F-box domain-containing protein (F37D6.4), mRNA
gi|1845970970|ref|NM_060344.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001744157	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Uncertain significance	germline	clinical testing
SCV001974270	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Uncertain significance	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001744157

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Uncertain significance

germline

clinical testing

SCV001974270

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Uncertain significance

germline

clinical testing

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 Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001744157.3

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

#	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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001974270.1

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

#	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: Dec 24, 2023

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