U.S. flag

An official website of the United States government

NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) AND Autosomal recessive congenital ichthyosis 10

Germline classification:
Pathogenic (1 submission)
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:
RCV002510569.2

Allele description [Variation Report for NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)]

NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)

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.917C>T (p.Ala306Val)
HGVS:
  • NC_000020.11:g.63439608G>A
  • NG_009004.2:g.38033C>T
  • NM_004518.6:c.917C>T
  • NM_172106.3:c.917C>T
  • NM_172107.4:c.917C>TMANE SELECT
  • NM_172108.5:c.917C>T
  • NM_172109.3:c.917C>T
  • NP_004509.2:p.Ala306Val
  • NP_742104.1:p.Ala306Val
  • NP_742105.1:p.Ala306Val
  • NP_742106.1:p.Ala306Val
  • NP_742107.1:p.Ala306Val
  • NC_000020.10:g.62070961G>A
  • NM_172107.2:c.917C>T
  • NM_172107.3:c.917C>T
Protein change:
A306V
Links:
dbSNP: rs864321707
NCBI 1000 Genomes Browser:
rs864321707
Molecular consequence:
  • NM_004518.6:c.917C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.917C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.917C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.917C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.917C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • Normal voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0032]
  • Severe decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0087]
  • Severe slowing of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0015]

Condition(s)

Name:
Autosomal recessive congenital ichthyosis 10 (ARCI10)
Identifiers:
MONDO: MONDO:0014011; MedGen: C3554355; Orphanet: 79394; OMIM: 615024

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
SCV002820112Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Neuberg Centre For Genomic Medicine, NCGM, SCV002820112.1

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

Description

The missense variant p.S53W in PNPLA1 (NM_001145717.1) has been previously reported in homozygous state in an affected patient. The patient had a collodion membrane at birth (Boyden LM et al).The variant has been submitted to ClinVar as Pathogenic based on the same. The p.S53W variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a large physicochemical difference between serine and tryptophan, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. For these reasons, this variant has been classified as Likely Pathogenic.

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

Last Updated: May 19, 2024