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NM_001031803.2(LLGL2):c.37C>T (p.Arg13Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 15, 2023
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:
RCV004359567.1

Allele description [Variation Report for NM_001031803.2(LLGL2):c.37C>T (p.Arg13Trp)]

NM_001031803.2(LLGL2):c.37C>T (p.Arg13Trp)

Gene:
LLGL2:LLGL scribble cell polarity complex component 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_001031803.2(LLGL2):c.37C>T (p.Arg13Trp)
HGVS:
  • NC_000017.11:g.75543463C>T
  • NM_001015002.2:c.37C>T
  • NM_001031803.2:c.37C>TMANE SELECT
  • NM_004524.3:c.37C>T
  • NP_001015002.1:p.Arg13Trp
  • NP_001026973.1:p.Arg13Trp
  • NP_004515.2:p.Arg13Trp
  • NC_000017.10:g.73539544C>T
  • NM_001031803.1:c.37C>T
Protein change:
R13W
Molecular consequence:
  • NM_001015002.2:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001031803.2:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004524.3:c.37C>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
SCV004093497Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 15, 2023) 		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, SCV004093497.2

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

Description

The c.37C>T (p.R13W) alteration is located in exon 2 (coding exon 1) of the LLGL2 gene. This alteration results from a C to T substitution at nucleotide position 37, causing the arginine (R) at amino acid position 13 to be replaced by a tryptophan (W). 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