NM_000238.4(KCNH2):c.572del (p.Pro191fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 10, 2015
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:: RCV000181961.4

Allele description [Variation Report for NM_000238.4(KCNH2):c.572del (p.Pro191fs)]

NM_000238.4(KCNH2):c.572del (p.Pro191fs)

Gene:

KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_000238.4(KCNH2):c.572del (p.Pro191fs)

HGVS:

NC_000007.14:g.150958406del
NG_008916.1:g.24524del
NM_000238.4:c.572delMANE SELECT
NM_001406753.1:c.281delC
NM_001406755.1:c.392delC
NM_001406756.1:c.281delC
NM_001406757.1:c.269delC
NM_172056.3:c.569delC
NP_000229.1:p.Pro191Argfs
NP_000229.1:p.Pro191fs
NP_001393682.1:p.Pro95Argfs
NP_001393684.1:p.Pro132Argfs
NP_001393685.1:p.Pro95Argfs
NP_001393686.1:p.Pro91Argfs
NP_742053.1:p.Pro191Argfs
NP_742053.1:p.Pro191fs
LRG_288t1:c.569del
LRG_288t2:c.572del
LRG_288:g.24524del
LRG_288p1:p.Pro191Argfs
LRG_288p2:p.Pro191fs
NC_000007.13:g.150655491del
NC_000007.13:g.150655494del
NM_000238.2:c.572delC
NM_000238.3:c.569delC
NM_172056.2:c.572del
NR_176254.1:n.977delC
p.P191RfsX10

Protein change:

P191fs

Links:

dbSNP: rs794728423

NCBI 1000 Genomes Browser:

rs794728423

Molecular consequence:

NM_000238.4:c.572del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406753.1:c.281delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406755.1:c.392delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406756.1:c.281delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406757.1:c.269delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172056.3:c.569delC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Rattus norvegicus myotubularin related protein 3 (Mtmr3), mRNA
Rattus norvegicus myotubularin related protein 3 (Mtmr3), mRNA
gi|58865643|ref|NM_001012038.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000234264	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 10, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000234264

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 10, 2015)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000234264.7

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

Description

Although the c.572delC mutation in the KCNH2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Proline 191, changing it to an Arginine, and creating a premature stop codon at position 10 of the new reading frame, denoted p.Pro191ArgfsX10. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the KCNH2 gene have been reported in association with LQTS.In summary, c.572delC in the KCNH2 gene is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024

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