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NM_004048.3(B2M):c.3G>A (p.Met1Ile)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
10 (Most recent: Jul 18, 2016)
Last evaluated:
May 31, 2016
Accession:
VCV000376368.1
Variation ID:
376368
Description:
single nucleotide variant
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NM_004048.3(B2M):c.3G>A (p.Met1Ile)

Allele ID
363247
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 44711549 (GRCh38) GRCh38 UCSC
15: 45003747 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1215t1:c.3G>A LRG_1215p1:p.Met1Ile
NC_000015.10:g.44711549G>A
NC_000015.9:g.45003747G>A
... more HGVS
Protein change
M1I
Other names
-
Canonical SPDI
NC_000015.10:44711548:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16602807
dbSNP: rs1057519877
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000422802.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000423896.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000426129.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000430927.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000432370.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000433775.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000433517.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000441172.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000442543.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000442680.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
B2M - - GRCh38
GRCh38
GRCh37
17 32

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Adenocarcinoma of stomach
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505766.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant melanoma of skin
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505765.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505768.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Ovarian Serous Cystadenocarcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505767.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Small cell lung carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505772.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Multiple myeloma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505774.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Squamous cell lung carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505769.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of the large intestine
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505770.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505771.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Lymphoma, Non-Hodgkin, Familial
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505773.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…

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
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/ENST00000558401:c.3G>A - - - -

Text-mined citations for rs1057519877...

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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 Oct 08, 2021