NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) AND not specified

Clinical significance:Likely benign (Last evaluated: Sep 10, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000156082.1

Allele description [Variation Report for NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)]

NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)
HGVS:
  • NC_000011.10:g.2572965A>C
  • NG_008935.1:g.132975A>C
  • NM_000218.2:c.900A>C
  • NM_000218.3:c.900A>CMANE SELECT
  • NM_181798.1:c.519A>C
  • NP_000209.2:p.Ala300=
  • NP_000209.2:p.Ala300=
  • NP_861463.1:p.Ala173=
  • LRG_287t1:c.900A>C
  • LRG_287t2:c.519A>C
  • LRG_287:g.132975A>C
  • LRG_287p1:p.Ala300=
  • LRG_287p2:p.Ala173=
  • NC_000011.9:g.2594195A>C
  • p.Ala300Ala
Links:
dbSNP: rs727504769
NCBI 1000 Genomes Browser:
rs727504769
Molecular consequence:
  • NM_000218.2:c.900A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000218.3:c.900A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181798.1:c.519A>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000205795Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Sep 10, 2013)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000205795.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

Ala300Ala in Exon 6 of KCNQ1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: Oct 2, 2021

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