U.S. flag

An official website of the United States government

NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jul 28, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000182234.6

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn)]

NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn)

Genes:
KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn)
Other names:
p.T610N:ACC>AAC
HGVS:
  • NC_000011.10:g.2847801C>A
  • NG_008935.1:g.407811C>A
  • NM_000218.3:c.1829C>AMANE SELECT
  • NM_001406836.1:c.1733C>A
  • NM_001406837.1:c.1559C>A
  • NM_001406838.1:c.1289C>A
  • NM_001406839.1:c.341C>A
  • NM_181798.2:c.1448C>A
  • NP_000209.2:p.Thr610Asn
  • NP_000209.2:p.Thr610Asn
  • NP_001393765.1:p.Thr578Asn
  • NP_001393766.1:p.Thr520Asn
  • NP_001393767.1:p.Thr430Asn
  • NP_001393768.1:p.Thr114Asn
  • NP_861463.1:p.Thr483Asn
  • NP_861463.1:p.Thr483Asn
  • LRG_287t1:c.1829C>A
  • LRG_287t2:c.1448C>A
  • LRG_287:g.407811C>A
  • LRG_287p1:p.Thr610Asn
  • LRG_287p2:p.Thr483Asn
  • NC_000011.9:g.2869031C>A
  • NM_000218.2:c.1829C>A
  • NM_181798.1:c.1448C>A
  • NR_040711.2:n.1722C>A
Protein change:
T114N
Links:
dbSNP: rs794728542
NCBI 1000 Genomes Browser:
rs794728542
Molecular consequence:
  • NM_000218.3:c.1829C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.1733C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.1559C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406838.1:c.1289C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406839.1:c.341C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.1448C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234537GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Feb 14, 2019) 		germlineclinical testing

Citation Link,

SCV002501813AiLife Diagnostics, AiLife Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 28, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Raju H, Ware JS, Skinner JR, Hedley PL, Arno G, Love DR, van der Werf C, Tfelt-Hansen J, Winkel BG, Cohen MC, Li X, John S, Sharma S, Jeffery S, Wilde AAM, Christiansen M, Sheppard MN, Behr ER.

BMC Cardiovasc Disord. 2019 Jul 23;19(1):174. doi: 10.1186/s12872-019-1154-8.

PubMed [citation]
PMID:
31337358
PMCID:
PMC6651896

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 GeneDx, SCV000234537.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31337358)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From AiLife Diagnostics, AiLife Diagnostics, SCV002501813.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 7, 2024