NM_000238.4(KCNH2):c.2414T>C (p.Phe805Ser) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 2, 2012
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:: RCV000182046.10

Allele description [Variation Report for NM_000238.4(KCNH2):c.2414T>C (p.Phe805Ser)]

NM_000238.4(KCNH2):c.2414T>C (p.Phe805Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_000238.4(KCNH2):c.2414T>C (p.Phe805Ser)

Other names:

p.F805S:TTT>TCT

HGVS:

NC_000007.14:g.150949034A>G
NG_008916.1:g.33893T>C
NG_112814.1:g.250A>G
NM_000238.4:c.2414T>CMANE SELECT
NM_001406753.1:c.2126T>C
NM_172057.3:c.1394T>C
NP_000229.1:p.Phe805Ser
NP_000229.1:p.Phe805Ser
NP_001393682.1:p.Phe709Ser
NP_742054.1:p.Phe465Ser
NP_742054.1:p.Phe465Ser
LRG_288t1:c.2414T>C
LRG_288t3:c.1394T>C
LRG_288:g.33893T>C
LRG_288p1:p.Phe805Ser
LRG_288p3:p.Phe465Ser
NC_000007.13:g.150646122A>G
NM_000238.2:c.2414T>C
NM_000238.3:c.2414T>C
NM_172056.1:c.*865T>C
NM_172057.2:c.1394T>C
NR_176254.1:n.2822T>C
NR_176255.1:n.1695T>C
Q12809:p.Phe805Ser

Protein change:

F465S

Links:

UniProtKB: Q12809#VAR_014385; dbSNP: rs199472999

NCBI 1000 Genomes Browser:

rs199472999

Molecular consequence:

NM_000238.4:c.2414T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406753.1:c.2126T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.1394T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_176254.1:n.2822T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176255.1:n.1695T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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semaphorin-4G precursor [Mus musculus]
semaphorin-4G precursor [Mus musculus]
gi|6755462|ref|NP_036106.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000234349	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 2, 2012)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000234349

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 2, 2012)

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, SCV000234349.9

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

Description

The Phe805Ser mutation in the KCNH2 gene has been reported previously in one individual with a diagnosis of LQTS and it was absent from more than 400 control alleles. Additionally, the NHLBI ESP Exome Variant Server reports Phe805Ser was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Phe805Ser results in a non-conservative amino acid substitution of a non-polar Phenylalanine residue with a polar Serine residue. Other mutations in this codon (Phe805Cys) and in nearby codons (Gly800Glu, Gly800Trp, Gly806Glu) have been reported in association with LQTS, further supporting the functional importance of this residue and this region of the protein. Therefore, the presence of the Phe805Ser mutation in the KCNH2 gene is consistent with a diagnosis of LQTS. The variant is found in LQT panel(s).

#	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: Nov 10, 2024

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