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NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000331508.9
Variation ID:
331508
Description:
single nucleotide variant
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NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)

Allele ID
282848
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151666141 (GRCh38) GRCh38 UCSC
2: 152522655 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_202:g.73347C>T
LRG_202t1:c.4980C>T
NC_000002.12:g.151666141G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:151666140:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (A)

Allele frequency
1000 Genomes Project 0.00220
Trans-Omics for Precision Medicine (TOPMed) 0.00227
The Genome Aggregation Database (gnomAD) 0.00242
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00215
Links
ClinGen: CA1910486
dbSNP: rs142074817
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Dec 5, 2020 RCV001086822.4
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jan 23, 2020 RCV000712394.5
Benign 1 criteria provided, single submitter Nov 29, 2016 RCV000427025.4
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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
(May 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842873.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Nov 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000702991.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000416995.3
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
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Invitae
Accession: SCV000640807.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jan 23, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000532757.5
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(Jan 08, 2020)
no assertion criteria provided
Method: clinical testing
Nemaline myopathy type 2
Allele origin: germline
Natera, Inc.
Accession: SCV001462187.1
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 rs142074817...

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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