NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 7, 2021
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:: RCV002495950.1

Allele description [Variation Report for NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro)]

NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro)

Genes:

KCNE2:potassium voltage-gated channel subfamily E regulatory subunit 2 [Gene - OMIM - HGNC]
LOC105372791:uncharacterized LOC105372791 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

Preferred name:

NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro)

HGVS:

NC_000021.9:g.34370491T>C
NG_008804.1:g.11468T>C
NM_172201.2:c.13T>CMANE SELECT
NP_751951.1:p.Ser5Pro
LRG_291t1:c.13T>C
LRG_291:g.11468T>C
NC_000021.8:g.35742790T>C
NM_172201.1:c.13T>C

Protein change:

S5P

Links:

dbSNP: rs2123423458

NCBI 1000 Genomes Browser:

rs2123423458

Molecular consequence:

NM_172201.2:c.13T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Atrial fibrillation, familial, 4 (ATFB4)
Identifiers:: MONDO: MONDO:0012677; MedGen: C1862394; OMIM: 611493

Name:: Long QT syndrome 6 (LQT6)
Identifiers:: MONDO: MONDO:0013370; MedGen: C3150953; Orphanet: 101016; Orphanet: 768; OMIM: 613693

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MAG: uncultured Flavobacteriaceae bacterium isolate R3_Bin_METABAT__164_sub_1, whole genome shotgun sequencing project
gi|2437418873|emb|CALLVX000000000.1 VX010000000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002792626	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 7, 2021)	unknown	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

SCV002792626

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 7, 2021)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002792626.1

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

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

Last Updated: Sep 29, 2024

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