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NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Mar 9, 2020)
Last evaluated:
Jul 6, 2019
Accession:
VCV000036837.4
Variation ID:
36837
Description:
single nucleotide variant
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NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)

Allele ID
45498
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q12
Genomic location
17: 37731634 (GRCh38) GRCh38 UCSC
17: 36091625 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.36091625G>A
NC_000017.11:g.37731634G>A
NM_000458.4:c.1006C>T MANE Select NP_000449.1:p.His336Tyr missense
... more HGVS
Protein change
H336Y, H310Y
Other names
-
Canonical SPDI
NC_000017.11:37731633:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA214343
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 3 criteria provided, conflicting interpretations Jul 6, 2019 RCV000030518.2
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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
399 519

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000053189.1
Submitted: (Aug 18, 2011)
Evidence details
Comment:
Converted during submission to Likely pathogenic.
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: SCV000926033.1
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:36837 as "NM_000458.3(HNF1B):c.1006C>T (p.His336Tyr)" … (more)
Evidence details
Publications
DOI: 10.1101/576918
Uncertain significance
(Jan 22, 2020)
no assertion criteria provided
Method: curation
Renal cysts and diabetes syndrome
(Autosomal dominant inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001423107.1
Submitted: (Mar 09, 2020)
Evidence details
Other databases
https://erepo.clinicalgenome.org…
Comment:
The p.His336Tyr variant in HNF1B has been reported in at least 1 individual with Renal Cysts and Diabetes Syndrome in ClinVar (Variation ID: 377055), and … (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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Title Author Journal Year Link
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/14e71c02-5f08-48c8-aea0-0a3be4023680 - - - -
- - - - DOI: 10.1101/576918

Record last updated Aug 27, 2021