NM_002242.4(KCNJ13):c.596_597dup (p.Thr200Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2022
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:: RCV002825730.2

Allele description

NM_002242.4(KCNJ13):c.596_597dup (p.Thr200Ter)

Genes:

GIGYF2:GRB10 interacting GYF protein 2 [Gene - OMIM - HGNC]
KCNJ13:potassium inwardly rectifying channel subfamily J member 13 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_002242.4(KCNJ13):c.596_597dup (p.Thr200Ter)

HGVS:

NC_000002.12:g.232768677_232768678dup
NG_011847.1:g.76373_76374dup
NG_016742.1:g.12888_12889dup
NM_001103146.3:c.532+7241_532+7242dupMANE SELECT
NM_001103147.2:c.532+7241_532+7242dup
NM_001103148.2:c.532+7241_532+7242dup
NM_001172416.1:c.*75_*76dup
NM_001172417.1:c.356_357dup
NM_002242.4:c.596_597dupMANE SELECT
NM_015575.4:c.532+7241_532+7242dup
NP_001165888.1:p.Thr120Ter
NP_002233.2:p.Thr200Ter
NC_000002.11:g.233633386_233633387insTA
NC_000002.11:g.233633387_233633388dup

Protein change:

T120*

Molecular consequence:

NM_001172416.1:c.*75_*76dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001103146.3:c.532+7241_532+7242dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001103147.2:c.532+7241_532+7242dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001103148.2:c.532+7241_532+7242dup - intron variant - [Sequence Ontology: SO:0001627]
NM_015575.4:c.532+7241_532+7242dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001172417.1:c.356_357dup - nonsense - [Sequence Ontology: SO:0001587]
NM_002242.4:c.596_597dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003208304	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 14, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003208304

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 14, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003208304.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with KCNJ13-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr200*) in the KCNJ13 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 161 amino acid(s) of the KCNJ13 protein.

#	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: Sep 1, 2024

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