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NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(6);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Sep 23, 2021)
Last evaluated:
May 18, 2021
Accession:
VCV000129726.8
Variation ID:
129726
Description:
single nucleotide variant
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NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)

Allele ID
135172
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151529225 (GRCh38) GRCh38 UCSC
2: 152385739 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_202:g.210263C>T
LRG_202t1:c.21825C>T
NC_000002.12:g.151529225G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:151529224:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00186
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00206
Exome Aggregation Consortium (ExAC) 0.00248
1000 Genomes Project 0.00120
The Genome Aggregation Database (gnomAD) 0.00165
The Genome Aggregation Database (gnomAD) 0.00127
Trans-Omics for Precision Medicine (TOPMed) 0.00177
The Genome Aggregation Database (gnomAD), exomes 0.00268
Links
ClinGen: CA153943
dbSNP: rs34718443
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Mar 15, 2017 RCV000117741.7
Benign 1 criteria provided, single submitter Jul 26, 2019 RCV001705848.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations May 18, 2021 RCV000551828.8
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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
RIF1 - - GRCh38
GRCh37
6 926

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 27, 2014)
criteria provided, single submitter
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000151994.1
Submitted: (Apr 30, 2014)
Evidence details
Benign
(Nov 15, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000225463.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000416847.3
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
(Mar 15, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000614169.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Invitae
Accession: SCV000640694.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 18, 2021)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Pars Genome Lab
Accession: SCV001736785.1
Submitted: (Jun 12, 2021)
Evidence details
Benign
(Jul 26, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000524864.5
Submitted: (Sep 23, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 25203624)

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 rs34718443...

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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