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NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jul 7, 2019)
Last evaluated:
Jul 6, 2019
Accession:
VCV000036856.4
Variation ID:
36856
Description:
single nucleotide variant
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NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)

Allele ID
45517
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q12
Genomic location
17: 37731678 (GRCh38) GRCh38 UCSC
17: 36091669 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.36091669T>C
NC_000017.11:g.37731678T>C
NG_013019.2:g.18429A>G
... more HGVS
Protein change
N321S, N295S
Other names
-
Canonical SPDI
NC_000017.11:37731677:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA214373
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 Jul 6, 2019 RCV000030537.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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 significance
(Jul 06, 2019)
criteria provided, single submitter
Method: literature only
Renal cysts and diabetes syndrome
Allele origin: germline
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
Accession: SCV000926040.1
Submitted: (Jul 07, 2019)
Comment:
This variant and it's classification has been reported by Vasileiou et al. 2019; DOI:10.1101/576918. The variants has previously been reported in ClinVar:36856 as "NM_000458.3(HNF1B):c.962A>G (p.Asn321Ser)" … (more)
Evidence details
Publications
DOI: 10.1101/576918
likely pathogenic
(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: SCV000053208.1
Submitted: (Aug 18, 2011)
Evidence details
Comment:
Converted during submission to Likely pathogenic.

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
- - - - DOI: 10.1101/576918

Record last updated Sep 18, 2021