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NM_005551.5(KLK2):c.163G>C (p.Val55Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 10, 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:
RCV004171391.1

Allele description [Variation Report for NM_005551.5(KLK2):c.163G>C (p.Val55Leu)]

NM_005551.5(KLK2):c.163G>C (p.Val55Leu)

Gene:
KLK2:kallikrein related peptidase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_005551.5(KLK2):c.163G>C (p.Val55Leu)
HGVS:
  • NC_000019.10:g.50874837G>C
  • NG_031984.1:g.6405G>C
  • NM_001002231.3:c.163G>C
  • NM_001256080.2:c.-101+1318G>C
  • NM_005551.5:c.163G>CMANE SELECT
  • NP_001002231.1:p.Val55Leu
  • NP_005542.1:p.Val55Leu
  • NC_000019.9:g.51378093G>C
  • NM_005551.3:c.163G>C
  • NR_045762.2:n.198G>C
  • NR_045763.2:n.198G>C
Protein change:
V55L
Molecular consequence:
  • NM_001256080.2:c.-101+1318G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001002231.3:c.163G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005551.5:c.163G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045762.2:n.198G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_045763.2:n.198G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003659485Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 10, 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, SCV003659485.2

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

Description

The c.163G>C (p.V55L) alteration is located in exon 2 (coding exon 2) of the KLK2 gene. This alteration results from a G to C substitution at nucleotide position 163, causing the valine (V) at amino acid position 55 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