NM_198404.3(KCTD4):c.29A>G (p.Lys10Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 4, 2024
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:: RCV004102712.2

Allele description [Variation Report for NM_198404.3(KCTD4):c.29A>G (p.Lys10Arg)]

NM_198404.3(KCTD4):c.29A>G (p.Lys10Arg)

Genes:

GTF2F2:general transcription factor IIF subunit 2 [Gene - OMIM - HGNC]
KCTD4:potassium channel tetramerization domain containing 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.12

Genomic location:

Preferred name:

NM_198404.3(KCTD4):c.29A>G (p.Lys10Arg)

HGVS:

NC_000013.11:g.45194539T>C
NM_004128.3:c.305-12885T>CMANE SELECT
NM_198404.3:c.29A>GMANE SELECT
NP_940686.2:p.Lys10Arg
NC_000013.10:g.45768674T>C
NM_198404.2:c.29A>G

Protein change:

K10R

Molecular consequence:

NM_004128.3:c.305-12885T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_198404.3:c.29A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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pre-mRNA-processing factor 17 [Mus musculus]
pre-mRNA-processing factor 17 [Mus musculus]
gi|198278501|ref|NP_082155.1|

Protein
Hypophosphatemia
Hypophosphatemia
A condition of an abnormally low level of PHOSPHATES in the blood.<br/>Year introduced: 1994

MeSH
Protein Tyrosine Phosphatase, Non-Receptor Type 22
Protein Tyrosine Phosphatase, Non-Receptor Type 22
A subtype of non-receptor protein tyrosine phosphatases that is characterized by the presence of an N-terminal catalytic domain and a C-terminal PROLINE-rich domain. The phosp...<br/>Year introduced: 2008(1999)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003570056	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 4, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003570056

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 4, 2024)

germline

clinical testing

Citation Link

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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, SCV003570056.3

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

Description

The c.29A>G (p.K10R) alteration is located in exon 2 (coding exon 1) of the KCTD4 gene. This alteration results from a A to G substitution at nucleotide position 29, causing the lysine (K) at amino acid position 10 to be replaced by an arginine (R). 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: Nov 3, 2024

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