NM_002087.4(GRN):c.1422C>T (p.Cys474=) AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000084489.2

Allele description [Variation Report for NM_002087.4(GRN):c.1422C>T (p.Cys474=)]

NM_002087.4(GRN):c.1422C>T (p.Cys474=)

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.1422C>T (p.Cys474=)

HGVS:

NC_000017.11:g.44352349C>T
NG_007886.1:g.12227C>T
NM_002087.4:c.1422C>TMANE SELECT
NP_002078.1:p.Cys474=
LRG_661:g.12227C>T
NC_000017.10:g.42429717C>T

Links:

dbSNP: rs63751470

NCBI 1000 Genomes Browser:

rs63751470

Molecular consequence:

NM_002087.4:c.1422C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000116625	VIB Department of Molecular Genetics, University of Antwerp	no classification provided	not provided	unknown	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000116625

VIB Department of Molecular Genetics, University of Antwerp

no classification provided

not provided

unknown

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116625.1

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

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

Last Updated: May 7, 2024

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Relating variation to medicine