NM_016027.3(LACTB2):c.28C>G (p.Arg10Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 21, 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:
RCV004639827.1

Allele description [Variation Report for NM_016027.3(LACTB2):c.28C>G (p.Arg10Gly)]

NM_016027.3(LACTB2):c.28C>G (p.Arg10Gly)

Gene:
LACTB2:lactamase beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q13.3
Genomic location:
Preferred name:
NM_016027.3(LACTB2):c.28C>G (p.Arg10Gly)
HGVS:
  • NC_000008.11:g.70669093G>C
  • NM_016027.3:c.28C>GMANE SELECT
  • NP_057111.1:p.Arg10Gly
  • NC_000008.10:g.71581328G>C
  • NM_016027.2:c.28C>G
Protein change:
R10G
Molecular consequence:
  • NM_016027.3:c.28C>G - 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
SCV005137218Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 21, 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, SCV005137218.1

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

Description

The c.28C>G (p.R10G) alteration is located in exon 1 (coding exon 1) of the LACTB2 gene. This alteration results from a C to G substitution at nucleotide position 28, causing the arginine (R) at amino acid position 10 to be replaced by a glycine (G). 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