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NM_172107.4(KCNQ2):c.2331C>T (p.Pro777=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 21, 2019
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:
RCV002450995.2

Allele description [Variation Report for NM_172107.4(KCNQ2):c.2331C>T (p.Pro777=)]

NM_172107.4(KCNQ2):c.2331C>T (p.Pro777=)

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.2331C>T (p.Pro777=)
HGVS:
  • NC_000020.11:g.63406932G>A
  • NG_009004.2:g.70709C>T
  • NM_004518.6:c.2247C>T
  • NM_172106.3:c.2277C>T
  • NM_172107.4:c.2331C>TMANE SELECT
  • NM_172108.5:c.2238C>T
  • NP_004509.2:p.Pro749=
  • NP_742104.1:p.Pro759=
  • NP_742105.1:p.Pro777=
  • NP_742106.1:p.Pro746=
  • NC_000020.10:g.62038285G>A
  • NM_172107.2:c.2331C>T
Links:
dbSNP: rs903555499
NCBI 1000 Genomes Browser:
rs903555499
Molecular consequence:
  • NM_004518.6:c.2247C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_172106.3:c.2277C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_172107.4:c.2331C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_172108.5:c.2238C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002738031Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 21, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002738031.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024