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NM_001164508.2(NEB):c.8592T>C (p.Asp2864=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000129760.9
Variation ID:
129760
Description:
single nucleotide variant
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NM_001164508.2(NEB):c.8592T>C (p.Asp2864=)

Allele ID
135206
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151640448 (GRCh38) GRCh38 UCSC
2: 152496962 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_202:g.99040T>C
LRG_202t1:c.8592T>C
NC_000002.12:g.151640448A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:151640447:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.01478 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01285
Trans-Omics for Precision Medicine (TOPMed) 0.01340
The Genome Aggregation Database (gnomAD) 0.01264
Exome Aggregation Consortium (ExAC) 0.00375
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01055
The Genome Aggregation Database (gnomAD) 0.01135
The Genome Aggregation Database (gnomAD), exomes 0.00305
1000 Genomes Project 0.01478
Links
ClinGen: CA154043
dbSNP: rs61730772
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Aug 23, 2016 RCV000117775.8
Benign 3 criteria provided, multiple submitters, no conflicts Dec 3, 2020 RCV000560053.7
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEB - - GRCh38
GRCh37
3747 4669

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Aug 23, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000343562.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 13, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000269440.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Asp2864Asp in exon 61 of NEB: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000416953.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Aug 08, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000529780.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Invitae
Accession: SCV000640878.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000152035.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Nemaline myopathy type 2
Allele origin: germline
Natera, Inc.
Accession: SCV001463527.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=NEB - - - -

Text-mined citations for rs61730772...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021