U.S. flag

An official website of the United States government

NM_172107.4(KCNQ2):c.1603G>A (p.Gly535Ser) AND Autism spectrum disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 19, 2020
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:
RCV003128015.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.1603G>A (p.Gly535Ser)]

NM_172107.4(KCNQ2):c.1603G>A (p.Gly535Ser)

Gene:
KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_172107.4(KCNQ2):c.1603G>A (p.Gly535Ser)
HGVS:
  • NC_000020.11:g.63414116C>T
  • NG_009004.2:g.63525G>A
  • NM_001382235.1:c.1549G>A
  • NM_004518.6:c.1519G>A
  • NM_172106.3:c.1549G>A
  • NM_172107.4:c.1603G>AMANE SELECT
  • NM_172108.5:c.1510G>A
  • NP_001369164.1:p.Gly517Ser
  • NP_004509.2:p.Gly507Ser
  • NP_742104.1:p.Gly517Ser
  • NP_742105.1:p.Gly535Ser
  • NP_742106.1:p.Gly504Ser
  • NC_000020.10:g.62045469C>T
  • NM_172106.2:c.1549G>A
Protein change:
G504S
Molecular consequence:
  • NM_001382235.1:c.1549G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004518.6:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.1549G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.1603G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autism spectrum disorder
Synonyms:
Autism spectrum disorders
Identifiers:
MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586

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
SCV003804085Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 19, 2020) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedclinical 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 Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, SCV003804085.1

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

Last Updated: May 6, 2023