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NM_015564.3(LRRTM2):c.1112C>T (p.Ala371Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 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:
RCV004178411.1

Allele description [Variation Report for NM_015564.3(LRRTM2):c.1112C>T (p.Ala371Val)]

NM_015564.3(LRRTM2):c.1112C>T (p.Ala371Val)

Genes:
CTNNA1:catenin alpha 1 [Gene - OMIM - HGNC]
LRRTM2:leucine rich repeat transmembrane neuronal 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.2
Genomic location:
Preferred name:
NM_015564.3(LRRTM2):c.1112C>T (p.Ala371Val)
HGVS:
  • NC_000005.10:g.138873449G>A
  • NG_047029.1:g.125054G>A
  • NM_001290307.3:c.1063-12763G>A
  • NM_001290309.3:c.754-12763G>A
  • NM_001290310.3:c.694-12763G>A
  • NM_001323982.2:c.1063-12763G>A
  • NM_001323983.1:c.1063-12763G>A
  • NM_001323984.2:c.1063-12763G>A
  • NM_001323985.2:c.1063-12763G>A
  • NM_001323986.2:c.1063-12763G>A
  • NM_001903.5:c.1063-12763G>AMANE SELECT
  • NM_015564.3:c.1112C>TMANE SELECT
  • NP_056379.1:p.Ala371Val
  • NC_000005.9:g.138209138G>A
  • NM_015564.2:c.1112C>T
Protein change:
A371V
Molecular consequence:
  • NM_001290307.3:c.1063-12763G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001290309.3:c.754-12763G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001290310.3:c.694-12763G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001323982.2:c.1063-12763G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001323983.1:c.1063-12763G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001323984.2:c.1063-12763G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001323985.2:c.1063-12763G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001323986.2:c.1063-12763G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001903.5:c.1063-12763G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015564.3:c.1112C>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
SCV003665205Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 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, SCV003665205.2

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

Description

The c.1112C>T (p.A371V) alteration is located in exon 2 (coding exon 2) of the LRRTM2 gene. This alteration results from a C to T substitution at nucleotide position 1112, causing the alanine (A) at amino acid position 371 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 3, 2024