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NM_001142279.2(RNASEH2B):c.455A>G (p.Asn152Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000312330.11
Variation ID:
312330
Description:
single nucleotide variant
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NM_001142279.2(RNASEH2B):c.455A>G (p.Asn152Ser)

Allele ID
336819
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.3
Genomic location
13: 50943339 (GRCh38) GRCh38 UCSC
13: 51517475 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.51517475A>G
NC_000013.11:g.50943339A>G
NM_001142279.2:c.455A>G NP_001135751.1:p.Asn152Ser missense
... more HGVS
Protein change
N152S
Other names
-
Canonical SPDI
NC_000013.11:50943338:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
The Genome Aggregation Database (gnomAD), exomes 0.00075
Exome Aggregation Consortium (ExAC) 0.00079
The Genome Aggregation Database (gnomAD) 0.00051
Trans-Omics for Precision Medicine (TOPMed) 0.00064
Links
dbSNP: rs146451037
ClinGen: CA6985586
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 13, 2018 RCV000487541.4
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Nov 21, 2020 RCV000609736.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RNASEH2B - - GRCh38
GRCh37
113 187

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 13, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000843491.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Aicardi Goutieres syndrome 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000384593.3
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)
Likely benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Aicardi Goutieres syndrome 2
Allele origin: germline
Invitae
Accession: SCV000772062.4
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Sep 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000574956.11
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
Aicardi Goutieres syndrome 2
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733350.1
Submitted: (Apr 04, 2018)
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
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. Günther C The Journal of clinical investigation 2015 PMID: 25500883

Text-mined citations for rs146451037...

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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 Jul 10, 2021