NM_002087.4(GRN):c.1353G>A (p.Pro451=) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 1, 2024
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:: RCV003886641.8

Allele description [Variation Report for NM_002087.4(GRN):c.1353G>A (p.Pro451=)]

NM_002087.4(GRN):c.1353G>A (p.Pro451=)

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.1353G>A (p.Pro451=)

HGVS:

NC_000017.11:g.44352188G>A
NG_007886.1:g.12066G>A
NM_002087.4:c.1353G>AMANE SELECT
NP_002078.1:p.Pro451=
NP_002078.1:p.Pro451=
LRG_661t1:c.1353G>A
LRG_661:g.12066G>A
LRG_661p1:p.Pro451=
NC_000017.10:g.42429556G>A
NM_002087.2:c.1353G>A

Molecular consequence:

NM_002087.4:c.1353G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Russula brevipes strain:BPL707
Russula brevipes strain:BPL707
Russula brevipes BPL707 Standard Draft genome sequencing

BioProject
root metagenome
root metagenome
Metatranscriptome of Pinus contorta CO500 inoculated with Suillus spraguei EM44 root tips from University of Florida, USA - EM44xPcon_wFe_r3

BioProject
LOC101927539 [Homo sapiens]
LOC101927539 [Homo sapiens]
Gene ID:101927539

Gene
101927539[uid] AND (alive[prop]) (1)
Gene
Xanthomonas oryzae pv. oryzae strain JL1 scaffold110, whole genome shotgun seque...
Xanthomonas oryzae pv. oryzae strain JL1 scaffold110, whole genome shotgun sequence
gi|1426333156|ref|NZ_QNLE01000111.1 |WGS:NZ_QNLE01|scaffold110

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004703114	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jan 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004703114

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jan 1, 2024)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004703114.8

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

Description

GRN: BP4, BP7

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

Last Updated: Oct 20, 2024

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