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NM_000545.8(HNF1A):c.694_696delinsGG (p.Leu232fs) AND HNF1A-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 29, 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:
RCV003971685.2

Allele description [Variation Report for NM_000545.8(HNF1A):c.694_696delinsGG (p.Leu232fs)]

NM_000545.8(HNF1A):c.694_696delinsGG (p.Leu232fs)

Gene:
HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_000545.8(HNF1A):c.694_696delinsGG (p.Leu232fs)
HGVS:
  • NC_000012.12:g.120993687_120993689delinsGG
  • NG_011731.2:g.19942_19944delinsGG
  • NM_000545.8:c.694_696delinsGGMANE SELECT
  • NM_001306179.2:c.694_696delinsGG
  • NM_001406915.1:c.694_696delinsGG
  • NP_000536.5:p.Leu232Glyfs
  • NP_000536.6:p.Leu232fs
  • NP_001293108.2:p.Leu232fs
  • NP_001393844.1:p.Leu232fs
  • LRG_522t1:c.694_696delCTAinsGG
  • LRG_522:g.19942_19944delinsGG
  • LRG_522p1:p.Leu232Glyfs
  • NC_000012.11:g.121431490_121431492delinsGG
  • NM_000545.5:c.694_696delCTAinsGG
  • NM_000545.6:c.694_696delinsGG
Protein change:
L232fs
Molecular consequence:
  • NM_000545.8:c.694_696delinsGG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001306179.2:c.694_696delinsGG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406915.1:c.694_696delinsGG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004782548PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Feb 29, 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, SCV004782548.2

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

Description

The HNF1A c.694_696delinsGG variant is predicted to result in a frameshift and premature protein termination (p.Leu232Glyfs*110). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in HNF1A are expected to be pathogenic. 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