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NM_145888.3(KLK10):c.340C>T (p.Arg114Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2024
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:
RCV004644196.1

Allele description [Variation Report for NM_145888.3(KLK10):c.340C>T (p.Arg114Cys)]

NM_145888.3(KLK10):c.340C>T (p.Arg114Cys)

Gene:
KLK10:kallikrein related peptidase 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.41
Genomic location:
Preferred name:
NM_145888.3(KLK10):c.340C>T (p.Arg114Cys)
HGVS:
  • NC_000019.10:g.51016086G>A
  • NM_001077500.2:c.340C>T
  • NM_002776.5:c.340C>T
  • NM_145888.3:c.340C>TMANE SELECT
  • NP_001070968.1:p.Arg114Cys
  • NP_002767.2:p.Arg114Cys
  • NP_665895.1:p.Arg114Cys
  • NC_000019.9:g.51519342G>A
  • NM_002776.4:c.340C>T
Protein change:
R114C
Molecular consequence:
  • NM_001077500.2:c.340C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002776.5:c.340C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145888.3:c.340C>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
SCV005131287Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 12, 2024) 		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, SCV005131287.1

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

Description

The c.340C>T (p.R114C) alteration is located in exon 4 (coding exon 3) of the KLK10 gene. This alteration results from a C to T substitution at nucleotide position 340, causing the arginine (R) at amino acid position 114 to be replaced by a cysteine (C). 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: Aug 11, 2024