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NM_153033.5(KCTD7):c.335G>A (p.Arg112His) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 5, 2014
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:
RCV000188023.1

Allele description [Variation Report for NM_153033.5(KCTD7):c.335G>A (p.Arg112His)]

NM_153033.5(KCTD7):c.335G>A (p.Arg112His)

Gene:
KCTD7:potassium channel tetramerization domain containing 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NM_153033.5(KCTD7):c.335G>A (p.Arg112His)
Other names:
p.R112H:CGC>CAC
HGVS:
  • NC_000007.14:g.66638273G>A
  • NG_028110.2:g.14393G>A
  • NM_001167961.2:c.335G>A
  • NM_153033.5:c.335G>AMANE SELECT
  • NP_001161433.1:p.Arg112His
  • NP_694578.1:p.Arg112His
  • NP_694578.1:p.Arg112His
  • LRG_835t1:c.335G>A
  • LRG_835:g.14393G>A
  • LRG_835p1:p.Arg112His
  • NC_000007.13:g.66103260G>A
  • NM_153033.4:c.335G>A
Protein change:
R112H
Links:
dbSNP: rs774026720
NCBI 1000 Genomes Browser:
rs774026720
Molecular consequence:
  • NM_001167961.2:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153033.5:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241626GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Dec 5, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241626.11

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

Description

The R112H variant that is likely pathogenic has been identified in the KCTD7 gene. The R112H variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution alters a highly conserved position predicted to be within the BTB domain of the KCTD7 protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the R112H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in EPILEPSY panel(s).

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

Last Updated: Feb 28, 2024