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NM_002485.4(NBN):c.301G>A (p.Val101Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 29, 2018)
Last evaluated:
Feb 21, 2018
Accession:
VCV000185392.1
Variation ID:
185392
Description:
single nucleotide variant
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NM_002485.4(NBN):c.301G>A (p.Val101Met)

Allele ID
182895
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q21.3
Genomic location
8: 89981394 (GRCh38) GRCh38 UCSC
8: 90993622 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.11:g.89981394C>T
NC_000008.10:g.90993622C>T
NM_002485.4:c.301G>A NP_002476.2:p.Val101Met missense
... more HGVS
Protein change
V101M
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
dbSNP: rs786202139
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 22, 2014 RCV000164802.1
Uncertain significance 1 criteria provided, single submitter Feb 21, 2018 RCV000636741.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NBN - - GRCh38
GRCh37
1373 1450

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 21, 2018)
criteria provided, single submitter
Method: clinical testing
Microcephaly, normal intelligence and immunodeficiency
Allele origin: germline
Invitae
Accession: SCV000758182.2
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces valine with methionine at codon 101 of the NBN protein (p.Val101Met). The valine residue is moderately conserved and there is a ... (more)
Uncertain significance
(Jul 22, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215482.4
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient or conflicting evidence

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Mar 29, 2019