U.S. flag

An official website of the United States government

NM_000545.8(HNF1A):c.864del (p.Pro291fs) AND HNF1A-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 4, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003424057.6

Allele description [Variation Report for NM_000545.8(HNF1A):c.864del (p.Pro291fs)]

NM_000545.8(HNF1A):c.864del (p.Pro291fs)

Gene:
HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
Other names:
NM_000545.6(HNF1A):c.864del; p.Pro291fs
HGVS:
  • NC_000012.12:g.120994314del
  • NG_011731.2:g.20569del
  • NM_000545.8:c.864delMANE SELECT
  • NM_001306179.2:c.864del
  • NP_000536.6:p.Pro291fs
  • NP_001293108.2:p.Pro291fs
  • LRG_522:g.20569del
  • NC_000012.11:g.121432115del
  • NC_000012.11:g.121432117del
  • NC_000012.12:g.120994314delG
  • NM_000545.5:c.864delG
  • NM_000545.6:c.864delG
Protein change:
P291fs
Links:
dbSNP: rs762703502
NCBI 1000 Genomes Browser:
rs762703502
Molecular consequence:
  • NM_000545.8:c.864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001306179.2:c.864del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
HNF1A-related disorder
Synonyms:
HNF1A-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004118426PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Jun 4, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004118426.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The HNF1A c.864delG variant is predicted to result in a frameshift and premature protein termination (p.Pro291Glnfs*51). This variant has been reported in individuals with diabetes mellitus or Maturity-Onset Diabetes of the Young (MODY) (e.g., Wheeler et al. 2013. PubMed ID: 24355479; Ludovico et al. 2015. PubMed ID: 26287533; Yalçıntepe et al. 2021. PubMed ID: 33565752). This variant is reported in 0.017% of alleles in individuals of European (Non-Finnish) descent in gnomAD. It is interpreted as pathogenic or likely pathogenic by multiple submitters to ClinVar, including the ClinGen Monogenic Diabetes Variant Curation Expert Panel (https://www.ncbi.nlm.nih.gov/clinvar/variation/435424). Frameshift and other loss-of-function variants in HNF1A are expected to be pathogenic. Based on the collective evidence, this variant is interpreted as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024