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NM_000545.8(HNF1A):c.257T>A (p.Leu86His) AND Monogenic diabetes

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 30, 2021
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV001810526.5

Allele description [Variation Report for NM_000545.8(HNF1A):c.257T>A (p.Leu86His)]

NM_000545.8(HNF1A):c.257T>A (p.Leu86His)

Gene:
HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_000545.8(HNF1A):c.257T>A (p.Leu86His)
Other names:
NM_001306179.2:c.257T>A
HGVS:
  • NC_000012.12:g.120979025T>A
  • NG_011731.2:g.5280T>A
  • NM_000545.8:c.257T>AMANE SELECT
  • NM_001306179.2:c.257T>A
  • NP_000536.6:p.Leu86His
  • NP_001293108.2:p.Leu86His
  • LRG_522:g.5280T>A
  • NC_000012.11:g.121416828T>A
Protein change:
L86H
Links:
dbSNP: rs200442958
NCBI 1000 Genomes Browser:
rs200442958
Molecular consequence:
  • NM_000545.8:c.257T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306179.2:c.257T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Monogenic diabetes
Identifiers:
MONDO: MONDO:0015967; MedGen: C3888631

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002059972ClinGen Monogenic Diabetes Variant Curation Expert Panel
reviewed by expert panel

(ClinGen Diabetes ACMG Specifications v1 1)		Uncertain significance
(Dec 30, 2021) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Monogenic Diabetes Variant Curation Expert Panel, SCV002059972.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.257T>A variant in the HNF1 homeobox A gene, HNF1A, causes an amino acid change of leucine to histidine at codon 86 (p.(Leu86His)) of NM_000545.8. This variant is predicted to be deleterious by computational evidence, with a REVEL score of 0.8209, which is greater than or equal to the MDEP VCEP threshold of 0.70 (PP3). Also, this variant has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.00004341, which is greater than or equal to the MDEP threshold for BS1 (≥0.000033) (BS1). In summary, c.257T>A meets the criteria to be classified as a variant of uncertain significance for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 1.1, approved 6/4/2021): PP3, BS1

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

Last Updated: May 12, 2024