NM_005097.4(LGI1):c.61T>C (p.Tyr21His) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 31, 2017
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:: RCV002318001.9

Allele description [Variation Report for NM_005097.4(LGI1):c.61T>C (p.Tyr21His)]

NM_005097.4(LGI1):c.61T>C (p.Tyr21His)

Gene:

LGI1:leucine rich glioma inactivated 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.33

Genomic location:

Preferred name:

NM_005097.4(LGI1):c.61T>C (p.Tyr21His)

HGVS:

NC_000010.11:g.93758205T>C
NG_011832.1:g.5397T>C
NM_001308275.2:c.61T>C
NM_001308276.2:c.61T>C
NM_005097.4:c.61T>CMANE SELECT
NP_001295204.1:p.Tyr21His
NP_001295205.1:p.Tyr21His
NP_005088.1:p.Tyr21His
NC_000010.10:g.95517962T>C
NM_005097.2:c.61T>C
NR_131777.2:n.270T>C

Protein change:

Y21H

Links:

dbSNP: rs1485010492

NCBI 1000 Genomes Browser:

rs1485010492

Molecular consequence:

NM_001308275.2:c.61T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001308276.2:c.61T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005097.4:c.61T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_131777.2:n.270T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000849578	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 31, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000849578

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 31, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000849578.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.Y21H variant (also known as c.61T>C), located in coding exon 1 of the LGI1 gene, results from a T to C substitution at nucleotide position 61. The tyrosine at codon 21 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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