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NM_016027.3(LACTB2):c.340A>G (p.Ile114Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 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:
RCV004079230.1

Allele description [Variation Report for NM_016027.3(LACTB2):c.340A>G (p.Ile114Val)]

NM_016027.3(LACTB2):c.340A>G (p.Ile114Val)

Genes:
LACTB2-AS1:LACTB2 antisense RNA 1 [Gene - HGNC]
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.340A>G (p.Ile114Val)
HGVS:
  • NC_000008.11:g.70657829T>C
  • NM_016027.3:c.340A>GMANE SELECT
  • NP_057111.1:p.Ile114Val
  • NC_000008.10:g.71570064T>C
  • NM_016027.2:c.340A>G
Protein change:
I114V
Molecular consequence:
  • NM_016027.3:c.340A>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
SCV003532000Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 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, SCV003532000.2

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

Description

The c.340A>G (p.I114V) alteration is located in exon 3 (coding exon 3) of the LACTB2 gene. This alteration results from a A to G substitution at nucleotide position 340, causing the isoleucine (I) at amino acid position 114 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