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NM_017527.4(LY6K):c.13G>C (p.Ala5Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 5, 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:
RCV004312406.1

Allele description [Variation Report for NM_017527.4(LY6K):c.13G>C (p.Ala5Pro)]

NM_017527.4(LY6K):c.13G>C (p.Ala5Pro)

Gene:
LY6K:lymphocyte antigen 6 family member K [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_017527.4(LY6K):c.13G>C (p.Ala5Pro)
HGVS:
  • NC_000008.11:g.142700540G>C
  • NM_001160354.2:c.13G>C
  • NM_001160355.2:c.13G>C
  • NM_017527.4:c.13G>CMANE SELECT
  • NP_001153826.1:p.Ala5Pro
  • NP_001153827.1:p.Ala5Pro
  • NP_059997.3:p.Ala5Pro
  • NC_000008.10:g.143781958G>C
  • NM_017527.3:c.13G>C
Protein change:
A5P
Molecular consequence:
  • NM_001160354.2:c.13G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160355.2:c.13G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017527.4:c.13G>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
SCV003960558Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 5, 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, SCV003960558.2

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

Description

The c.13G>C (p.A5P) alteration is located in exon 1 (coding exon 1) of the LY6K gene. This alteration results from a G to C substitution at nucleotide position 13, causing the alanine (A) at amino acid position 5 to be replaced by a proline (P). 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