NM_153033.5(KCTD7):c.430A>G (p.Met144Val) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 7, 2017
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:: RCV002313695.9

Allele description [Variation Report for NM_153033.5(KCTD7):c.430A>G (p.Met144Val)]

NM_153033.5(KCTD7):c.430A>G (p.Met144Val)

Gene:

KCTD7:potassium channel tetramerization domain containing 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.21

Genomic location:

Preferred name:

NM_153033.5(KCTD7):c.430A>G (p.Met144Val)

HGVS:

NC_000007.14:g.66638368A>G
NG_028110.2:g.14488A>G
NM_001167961.2:c.430A>G
NM_153033.5:c.430A>GMANE SELECT
NP_001161433.1:p.Met144Val
NP_694578.1:p.Met144Val
NP_694578.1:p.Met144Val
LRG_835t1:c.430A>G
LRG_835:g.14488A>G
LRG_835p1:p.Met144Val
NC_000007.13:g.66103355A>G
NM_153033.4:c.430A>G

Protein change:

M144V

Links:

dbSNP: rs749618351

NCBI 1000 Genomes Browser:

rs749618351

Molecular consequence:

NM_001167961.2:c.430A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_153033.5:c.430A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000848954	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 7, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000848954

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 7, 2017)

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, SCV000848954.4

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

Description

The p.M144V variant (also known as c.430A>G), located in coding exon 3 of the KCTD7 gene, results from an A to G substitution at nucleotide position 430. The methionine at codon 144 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant 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: Jun 2, 2024

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