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NM_025261.3(LY6G6C):c.190C>T (p.Arg64Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 24, 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:
RCV004410953.1

Allele description [Variation Report for NM_025261.3(LY6G6C):c.190C>T (p.Arg64Cys)]

NM_025261.3(LY6G6C):c.190C>T (p.Arg64Cys)

Gene:
LY6G6C:lymphocyte antigen 6 family member G6C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_025261.3(LY6G6C):c.190C>T (p.Arg64Cys)
HGVS:
  • NC_000006.12:g.31719284G>A
  • NG_029044.2:g.941G>A
  • NM_025261.3:c.190C>TMANE SELECT
  • NP_079537.1:p.Arg64Cys
  • LRG_1003:g.941G>A
  • NC_000006.11:g.31687061G>A
  • NM_025261.2:c.190C>T
Protein change:
R64C
Molecular consequence:
  • NM_025261.3:c.190C>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
SCV004900587Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 24, 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, SCV004900587.1

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

Description

The c.190C>T (p.R64C) alteration is located in exon 3 (coding exon 3) of the LY6G6C gene. This alteration results from a C to T substitution at nucleotide position 190, causing the arginine (R) at amino acid position 64 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: May 7, 2024