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NM_199127.3(GGTLC2):c.347G>T (p.Gly116Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 21, 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:
RCV004086592.1

Allele description [Variation Report for NM_199127.3(GGTLC2):c.347G>T (p.Gly116Val)]

NM_199127.3(GGTLC2):c.347G>T (p.Gly116Val)

Genes:
GGTLC2:gamma-glutamyltransferase light chain 2 [Gene - OMIM - HGNC]
IGL:immunoglobulin lambda locus [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.22
Genomic location:
Preferred name:
NM_199127.3(GGTLC2):c.347G>T (p.Gly116Val)
HGVS:
  • NC_000022.11:g.22647025G>T
  • NG_000002.1:g.613479G>T
  • NM_001282879.2:c.347G>T
  • NM_001391910.1:c.347G>T
  • NM_001391911.1:c.347G>T
  • NM_199127.3:c.347G>TMANE SELECT
  • NP_001269808.1:p.Gly116Val
  • NP_001378839.1:p.Gly116Val
  • NP_001378840.1:p.Gly116Val
  • NP_954578.2:p.Gly116Val
  • NC_000022.10:g.22989495G>T
  • NM_199127.2:c.347G>T
Protein change:
G116V
Molecular consequence:
  • NM_001282879.2:c.347G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001391910.1:c.347G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001391911.1:c.347G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199127.3:c.347G>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
SCV003553948Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 21, 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, SCV003553948.2

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

Description

The c.347G>T (p.G116V) alteration is located in exon 3 (coding exon 3) of the GGTLC2 gene. This alteration results from a G to T substitution at nucleotide position 347, causing the glycine (G) at amino acid position 116 to be replaced by a valine (V). 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