VCV000376461.2 - ClinVar

NM_006164.5(NFE2L2):c.85G>C (p.Asp29His)

Germline

Classification

no assertion criteria provided. Learn more about how ClinVar calculates review status.

Likely pathogenic

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_006164.5(NFE2L2):c.85G>C (p.Asp29His)

Variation ID: 376461 Accession: VCV000376461.2

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 2q31.2 2: 177234232 (GRCh38) [ NCBI UCSC ] 2: 178098960 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Mar 8, 2017	Mar 8, 2017	May 31, 2016

HGVS

Nucleotide	Protein	Molecular consequence
NM_006164.5:c.85G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_006155.2:p.Asp29His	missense
NM_001145412.3:c.37G>C	NP_001138884.1:p.Asp13His	missense
NM_001145413.3:c.37G>C	NP_001138885.1:p.Asp13His	missense
NM_001313900.1:c.37G>C	NP_001300829.1:p.Asp13His	missense
NM_001313901.1:c.37G>C	NP_001300830.1:p.Asp13His	missense
NM_001313902.2:c.85G>C	NP_001300831.1:p.Asp29His	missense
NM_001313903.2:c.85G>C	NP_001300832.1:p.Asp29His	missense
NM_001313904.1:c.-145G>C		5 prime UTR
NC_000002.12:g.177234232C>G
NC_000002.11:g.178098960C>G

... more HGVS ... less HGVS

Protein change

D13H, D29H

Other names

Canonical SPDI

NC_000002.12:177234231:C:G

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA16602895 dbSNP: rs1057519920 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
NFE2L2		-	-	GRCh38 GRCh37	354	410

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Squamous cell lung carcinoma	Likely pathogenic (1)	no assertion criteria provided	May 31, 2016	RCV000424276.2
Transitional cell carcinoma of the bladder	Likely pathogenic (1)	no assertion criteria provided	May 31, 2016	RCV000427125.2
Squamous cell carcinoma of the head and neck	Likely pathogenic (1)	no assertion criteria provided	May 31, 2016	RCV000432126.2
Papillary renal cell carcinoma type 1	Likely pathogenic (1)	no assertion criteria provided	May 31, 2016	RCV000434556.2
Neoplasm of uterine cervix	Likely pathogenic (1)	no assertion criteria provided	May 31, 2016	RCV000442352.2
Malignant neoplasm of body of uterus	Likely pathogenic (1)	no assertion criteria provided	May 31, 2016	RCV000442314.2
Lung adenocarcinoma	Likely pathogenic (1)	no assertion criteria provided	May 31, 2016	RCV000445333.2

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Likely pathogenic (May 31, 2016)	no assertion criteria provided	Squamous cell lung carcinoma (Somatic mutation)	Database of Curated Mutations (DoCM) Accession: SCV000506769.1 First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017	Publications: PubMed (1) PubMed: 26619011 Other databases http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000397062:c.85G>C Observation: 1 Collection method: literature only Allele origin: somatic Affected status: yes Observation 1 Collection method: literature only Allele origin: somatic Affected status: yes

Likely pathogenic (May 31, 2016)	no assertion criteria provided	Renal cell carcinoma (Somatic mutation)	Database of Curated Mutations (DoCM) Accession: SCV000506770.1 First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017	Publications: PubMed (1) PubMed: 26619011 Other databases http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000397062:c.85G>C Observation: 1 Collection method: literature only Allele origin: somatic Affected status: yes Observation 1 Collection method: literature only Allele origin: somatic Affected status: yes

Likely pathogenic (May 31, 2016)	no assertion criteria provided	Neoplasm of uterine cervix (Somatic mutation)	Database of Curated Mutations (DoCM) Accession: SCV000506771.1 First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017	Publications: PubMed (1) PubMed: 26619011 Other databases http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000397062:c.85G>C Observation: 1 Collection method: literature only Allele origin: somatic Affected status: yes Observation 1 Collection method: literature only Allele origin: somatic Affected status: yes

Likely pathogenic (May 31, 2016)	no assertion criteria provided	Malignant neoplasm of body of uterus (Somatic mutation)	Database of Curated Mutations (DoCM) Accession: SCV000506768.1 First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017	Publications: PubMed (1) PubMed: 26619011 Other databases http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000397062:c.85G>C Observation: 1 Collection method: literature only Allele origin: somatic Affected status: yes Observation 1 Collection method: literature only Allele origin: somatic Affected status: yes

Likely pathogenic (May 31, 2016)	no assertion criteria provided	None (Somatic mutation)	Database of Curated Mutations (DoCM) Accession: SCV000506773.1 First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017	Publications: PubMed (1) PubMed: 26619011 Other databases http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000397062:c.85G>C Observation: 1 Collection method: literature only Allele origin: somatic Affected status: yes Observation 1 Collection method: literature only Allele origin: somatic Affected status: yes

Likely pathogenic (May 31, 2016)	no assertion criteria provided	None (Somatic mutation)	Database of Curated Mutations (DoCM) Accession: SCV000506774.1 First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017	Publications: PubMed (1) PubMed: 26619011 Other databases http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000397062:c.85G>C Observation: 1 Collection method: literature only Allele origin: somatic Affected status: yes Observation 1 Collection method: literature only Allele origin: somatic Affected status: yes

Likely pathogenic (May 31, 2016)	no assertion criteria provided	Transitional cell carcinoma of the bladder (Somatic mutation)	Database of Curated Mutations (DoCM) Accession: SCV000506772.1 First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017	Publications: PubMed (1) PubMed: 26619011 Other databases http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000397062:c.85G>C Observation: 1 Collection method: literature only Allele origin: somatic Affected status: yes Observation 1 Collection method: literature only Allele origin: somatic Affected status: yes

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.	Chang MT	Nature biotechnology	2016	PMID: 26619011
http://docm.genome.wustl.edu/variants/ENST00000397062:c.85G>C	-	-	-	-

Text-mined citations for rs1057519920 ...

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 Dec 22, 2024

ClinVar Genomic variation as it relates to human health

NM_006164.5(NFE2L2):c.85G>C (p.Asp29His)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Citations for germline classification of this variant

Text-mined citations for rs1057519920 ...