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NM_000238.4(KCNH2):c.930A>G (p.Pro310=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 14, 2023
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:
RCV003343847.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.930A>G (p.Pro310=)]

NM_000238.4(KCNH2):c.930A>G (p.Pro310=)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.4(KCNH2):c.930A>G (p.Pro310=)
HGVS:
  • NC_000007.14:g.150957489T>C
  • NG_008916.1:g.25438A>G
  • NM_000238.4:c.930A>GMANE SELECT
  • NM_001406753.1:c.642A>G
  • NM_001406755.1:c.753A>G
  • NM_001406756.1:c.642A>G
  • NM_001406757.1:c.630A>G
  • NM_172056.3:c.930A>G
  • NP_000229.1:p.Pro310=
  • NP_000229.1:p.Pro310=
  • NP_001393682.1:p.Pro214=
  • NP_001393684.1:p.Pro251=
  • NP_001393685.1:p.Pro214=
  • NP_001393686.1:p.Pro210=
  • NP_742053.1:p.Pro310=
  • NP_742053.1:p.Pro310=
  • LRG_288t1:c.930A>G
  • LRG_288t2:c.930A>G
  • LRG_288:g.25438A>G
  • LRG_288p1:p.Pro310=
  • LRG_288p2:p.Pro310=
  • NC_000007.13:g.150654577T>C
  • NM_000238.2:c.930A>G
  • NM_000238.3:c.930A>G
  • NM_172056.2:c.930A>G
  • NR_176254.1:n.1338A>G
Links:
dbSNP: rs745496986
NCBI 1000 Genomes Browser:
rs745496986
Molecular consequence:
  • NR_176254.1:n.1338A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000238.4:c.930A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406753.1:c.642A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406755.1:c.753A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406756.1:c.642A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406757.1:c.630A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_172056.3:c.930A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004074816Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 14, 2023) 		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, SCV004074816.2

#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: Nov 10, 2024