NM_002241.5(KCNJ10):c.135C>A (p.Ala45=) AND EAST syndrome

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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 19, 2023
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:: RCV003618920.1

Allele description

NM_002241.5(KCNJ10):c.135C>A (p.Ala45=)

Gene:

KCNJ10:potassium inwardly rectifying channel subfamily J member 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.2

Genomic location:

Preferred name:

NM_002241.5(KCNJ10):c.135C>A (p.Ala45=)

HGVS:

NC_000001.11:g.160042398G>T
NG_016411.1:g.32774C>A
NM_002241.5:c.135C>AMANE SELECT
NP_002232.2:p.Ala45=
NC_000001.10:g.160012188G>T

Molecular consequence:

NM_002241.5:c.135C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: EAST syndrome (SESAMES)
Synonyms:: SeSAME syndrome; Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; Epilepsy, ataxia, sensorineural deafness and tubulopathy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0013005; MedGen: C2748572; Orphanet: 199343; OMIM: 612780

Recent activity

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PREDICTED: Homo sapiens ADAMTS like 2 (ADAMTSL2), transcript variant X2, mRNA
PREDICTED: Homo sapiens ADAMTS like 2 (ADAMTSL2), transcript variant X2, mRNA
gi|2217382342|ref|XM_011519242.4|

Nucleotide
Tacca integrifolia voucher NMNH 02-029 RNA polymerase B (rpoB2) gene, partial cd...
Tacca integrifolia voucher NMNH 02-029 RNA polymerase B (rpoB2) gene, partial cds; chloroplast
gi|156143055|gb|EF590490.1|

Nucleotide
Zingiberales 18S ribosomal RNA gene, partial sequence; internal transcribed spac...
Zingiberales 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 26S ribosomal RNA gene, partial sequence.
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004528994	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 19, 2023)	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

SCV004528994

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 19, 2023)

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, SCV004528994.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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