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NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000129712.9
Variation ID:
129712
Description:
single nucleotide variant
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NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser)

Allele ID
135158
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151567211 (GRCh38) GRCh38 UCSC
2: 152423725 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_202:g.172277A>G
LRG_202t1:c.18113A>G
P20929:p.Asn4337Ser
... more HGVS
Protein change
N6038S, N4337S
Other names
-
Canonical SPDI
NC_000002.12:151567210:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.01198 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01073
Trans-Omics for Precision Medicine (TOPMed) 0.01183
The Genome Aggregation Database (gnomAD) 0.01192
1000 Genomes Project 0.01198
The Genome Aggregation Database (gnomAD), exomes 0.00289
Trans-Omics for Precision Medicine (TOPMed) 0.01232
Exome Aggregation Consortium (ExAC) 0.00351
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01122
Links
ClinGen: CA153896
UniProtKB: P20929#VAR_047707
dbSNP: rs16830236
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 Nov 21, 2020 RCV001084010.4
Benign 2 criteria provided, single submitter May 12, 2016 RCV000117727.6
Benign 1 criteria provided, single submitter May 25, 2018 RCV000712383.4
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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 12, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000525741.4
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
(May 25, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842860.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001294455.1
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
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Invitae
Accession: SCV000640613.5
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: SCV000151976.2
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: SCV001453283.1
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs16830236...

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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