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NM_173605.2(KCNRG):c.657A>C (p.Leu219Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 10, 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:
RCV004312758.1

Allele description [Variation Report for NM_173605.2(KCNRG):c.657A>C (p.Leu219Phe)]

NM_173605.2(KCNRG):c.657A>C (p.Leu219Phe)

Genes:
DLEU2:deleted in lymphocytic leukemia 2 [Gene - OMIM - HGNC]
KCNRG:potassium channel regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_173605.2(KCNRG):c.657A>C (p.Leu219Phe)
HGVS:
  • NC_000013.11:g.50020292A>C
  • NM_173605.2:c.657A>CMANE SELECT
  • NM_199464.3:c.*65A>C
  • NP_775876.1:p.Leu219Phe
  • NC_000013.10:g.50594428A>C
  • NM_173605.1:c.657A>C
Protein change:
L219F
Molecular consequence:
  • NM_199464.3:c.*65A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_173605.2:c.657A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003967990Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 10, 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, SCV003967990.2

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

Description

The c.657A>C (p.L219F) alteration is located in exon 2 (coding exon 2) of the KCNRG gene. This alteration results from a A to C substitution at nucleotide position 657, causing the leucine (L) at amino acid position 219 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024