NM_000421.5(KRT10):c.1622G>T (p.Gly541Val) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 8, 2021
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:: RCV002778095.2

Allele description [Variation Report for NM_000421.5(KRT10):c.1622G>T (p.Gly541Val)]

NM_000421.5(KRT10):c.1622G>T (p.Gly541Val)

Gene:

KRT10:keratin 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_000421.5(KRT10):c.1622G>T (p.Gly541Val)

HGVS:

NC_000017.11:g.40818913C>A
NG_008405.1:g.8699G>T
NG_008405.2:g.8701G>T
NM_000421.5:c.1622G>TMANE SELECT
NM_001379366.1:c.1622G>T
NP_000412.4:p.Gly541Val
NP_001366295.1:p.Gly541Val
NC_000017.10:g.38975165C>A
NM_000421.3:c.1622G>T

Protein change:

G541V

Molecular consequence:

NM_000421.5:c.1622G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001379366.1:c.1622G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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
SCV003594992	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 8, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003594992

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 8, 2021)

germline

clinical testing

Citation Link

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 Ambry Genetics, SCV003594992.2

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

Description

The c.1622G>T (p.G541V) alteration is located in exon 7 (coding exon 7) of the KRT10 gene. This alteration results from a G to T substitution at nucleotide position 1622, causing the glycine (G) at amino acid position 541 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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