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NM_000458.4(HNF1B):c.1045+12T>C

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Interpretation:
Conflicting interpretations of pathogenicity​

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

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000036838.2
Variation ID:
36838
Description:
single nucleotide variant
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NM_000458.4(HNF1B):c.1045+12T>C

Allele ID
45499
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q12
Genomic location
17: 37731583 (GRCh38) GRCh38 UCSC
17: 36091574 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.36091574A>G
NC_000017.11:g.37731583A>G
NM_000458.4:c.1045+12T>C MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:37731582:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00088
The Genome Aggregation Database (gnomAD) 0.00061
The Genome Aggregation Database (gnomAD), exomes 0.00113
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00054
Exome Aggregation Consortium (ExAC) 0.00185
1000 Genomes Project 0.00080
Links
ClinGen: CA214345
dbSNP: rs141166864
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 11, 2017 RCV000420033.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 13, 2018 RCV000030519.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HNF1B Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
408 528

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
uncertain
(Aug 18, 2011)
criteria provided, single submitter
Method: curation, clinical testing
MODY5
(autosomal unknown)
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000053190.1
Submitted: (Aug 18, 2011)
Evidence details
Comment:
Converted during submission to Uncertain significance.
Benign
(Apr 11, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613638.1
Submitted: (Aug 17, 2017)
Evidence details
Likely benign
(Oct 04, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000532304.4
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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Renal cysts and diabetes syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000402431.3
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)

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 rs141166864...

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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 Jun 14, 2021