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NM_006615.3(CAPN9):c.17G>T (p.Arg6Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 28, 2022
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:
RCV004141378.1

Allele description [Variation Report for NM_006615.3(CAPN9):c.17G>T (p.Arg6Leu)]

NM_006615.3(CAPN9):c.17G>T (p.Arg6Leu)

Gene:
CAPN9:calpain 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.2
Genomic location:
Preferred name:
NM_006615.3(CAPN9):c.17G>T (p.Arg6Leu)
HGVS:
  • NC_000001.11:g.230747513G>T
  • NG_008836.3:g.3070C>A
  • NM_001319676.2:c.17G>T
  • NM_006615.3:c.17G>TMANE SELECT
  • NM_016452.3:c.17G>T
  • NP_001306605.1:p.Arg6Leu
  • NP_006606.1:p.Arg6Leu
  • NP_057536.1:p.Arg6Leu
  • NC_000001.10:g.230883259G>T
  • NM_006615.2:c.17G>T
Protein change:
R6L
Molecular consequence:
  • NM_001319676.2:c.17G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006615.3:c.17G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016452.3:c.17G>T - 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
SCV003629022Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 28, 2022) 		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, SCV003629022.2

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

Description

The c.17G>T (p.R6L) alteration is located in exon 1 (coding exon 1) of the CAPN9 gene. This alteration results from a G to T substitution at nucleotide position 17, causing the arginine (R) at amino acid position 6 to be replaced by a leucine (L). 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: Nov 10, 2024