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NM_002087.4(GRN):c.1126G>A (p.Asp376Asn) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 6, 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:
RCV002444966.10

Allele description [Variation Report for NM_002087.4(GRN):c.1126G>A (p.Asp376Asn)]

NM_002087.4(GRN):c.1126G>A (p.Asp376Asn)

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.1126G>A (p.Asp376Asn)
HGVS:
  • NC_000017.11:g.44351742G>A
  • NG_007886.1:g.11620G>A
  • NM_002087.4:c.1126G>AMANE SELECT
  • NP_002078.1:p.Asp376Asn
  • NP_002078.1:p.Asp376Asn
  • LRG_661t1:c.1126G>A
  • LRG_661:g.11620G>A
  • NC_000017.10:g.42429110G>A
  • NC_000017.10:g.42429110G>A
  • NM_002087.2:c.1126G>A
  • NM_002087.3:c.1126G>A
Protein change:
D376N
Links:
dbSNP: rs143030899
NCBI 1000 Genomes Browser:
rs143030899
Molecular consequence:
  • NM_002087.4:c.1126G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002753990Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 6, 2024) 		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, SCV002753990.3

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024