NM_002087.4(GRN):c.1019A>T (p.His340Leu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 11, 2018
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:: RCV002365806.2

Allele description [Variation Report for NM_002087.4(GRN):c.1019A>T (p.His340Leu)]

NM_002087.4(GRN):c.1019A>T (p.His340Leu)

Gene:

GRN:granulin precursor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_002087.4(GRN):c.1019A>T (p.His340Leu)

HGVS:

NC_000017.11:g.44351635A>T
NG_007886.1:g.11513A>T
NM_002087.4:c.1019A>TMANE SELECT
NP_002078.1:p.His340Leu
LRG_661t1:c.1019A>T
LRG_661:g.11513A>T
NC_000017.10:g.42429003A>T
NC_000017.10:g.42429003A>T
NM_002087.2:c.1019A>T

Protein change:

H340L

Links:

dbSNP: rs775196555

NCBI 1000 Genomes Browser:

rs775196555

Molecular consequence:

NM_002087.4:c.1019A>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002660973	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 11, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002660973

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 11, 2018)

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, SCV002660973.2

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

Description

The p.H340L variant (also known as c.1019A>T), located in coding exon 9 of the GRN gene, results from an A to T substitution at nucleotide position 1019. The histidine at codon 340 is replaced by leucine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species, and leucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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: Sep 29, 2024

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