NM_000421.5(KRT10):c.1569_1592dup (p.Ser525_Gly532dup) AND KRT10-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 1, 2022
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:: RCV003950944.2

Allele description [Variation Report for NM_000421.5(KRT10):c.1569_1592dup (p.Ser525_Gly532dup)]

NM_000421.5(KRT10):c.1569_1592dup (p.Ser525_Gly532dup)

Gene:

KRT10:keratin 10 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_000421.5(KRT10):c.1569_1592dup (p.Ser525_Gly532dup)

HGVS:

NC_000017.11:g.40818947_40818970dup
NG_008405.1:g.8646_8669dup
NM_000421.3:c.1569_1592dup24
NM_000421.5:c.1569_1592dupMANE SELECT
NM_001379366.1:c.1569_1592dup
NP_000412.4:p.Ser525_Gly532dup
NP_001366295.1:p.Ser525_Gly532dup
NC_000017.10:g.38975194_38975195insCCGTAGCCGCCGCTGGAACTGCCG
NC_000017.10:g.38975199_38975222dup

Links:

dbSNP: rs1174823534

NCBI 1000 Genomes Browser:

rs1174823534

Molecular consequence:

NM_000421.5:c.1569_1592dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001379366.1:c.1569_1592dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: KRT10-related disorder
Synonyms:: KRT10-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

pig-W [Schizosaccharomyces pombe]
pig-W [Schizosaccharomyces pombe]
gi|19115583|ref|NP_594671.1|

Protein
Histone H2B 2 [Caenorhabditis elegans]
Histone H2B 2 [Caenorhabditis elegans]
gi|17561996|ref|NP_505197.1|

Protein
Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), transcri...
Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), transcript variant 2, mRNA
gi|1675169466|ref|NM_001297609.2|

Nucleotide
Homo sapiens sialic acid-binding lectin Siglec-9 mRNA, complete cds
Homo sapiens sialic acid-binding lectin Siglec-9 mRNA, complete cds
gi|8037714|gb|AF227924.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004758560	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Feb 1, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004758560

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Feb 1, 2022)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004758560.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine