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NM_000545.8(HNF1A):c.870C>T (p.Pro290=) AND Monogenic diabetes

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2022
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:
RCV002250366.10

Allele description [Variation Report for NM_000545.8(HNF1A):c.870C>T (p.Pro290=)]

NM_000545.8(HNF1A):c.870C>T (p.Pro290=)

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.870C>T (p.Pro290=)
Other names:
NM_000545.8(HNF1A):c.870C>T; p.Pro290=
HGVS:
  • NC_000012.12:g.120994320C>T
  • NG_011731.2:g.20575C>T
  • NM_000545.8:c.870C>TMANE SELECT
  • NM_001306179.2:c.870C>T
  • NP_000536.6:p.Pro290=
  • NP_001293108.2:p.Pro290=
  • LRG_522t1:c.870C>T
  • LRG_522:g.20575C>T
  • NC_000012.11:g.121432123C>T
  • NM_000545.5:c.870C>T
Links:
dbSNP: rs779008957
NCBI 1000 Genomes Browser:
rs779008957
Molecular consequence:
  • NM_000545.8:c.870C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001306179.2:c.870C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002520657ClinGen Monogenic Diabetes Variant Curation Expert Panel
reviewed by expert panel

(ClinGen Diabetes ACMG Specifications v1 1)
Uncertain significance
(May 3, 2022)
germlinecuration

Citation Link

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, SCV002520657.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.870C>T variant in the HNF1 homeobox A gene, HNF1A, is a synonymous (silent) variant at codon 290 (p.Pro290=) of NM_000545.8. This synonymous variant is not predicted by SpliceAI to impact splicing (BP7). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, c.870C>T 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 9/30/2021): BP7, PM2_Supporting.

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

Last Updated: Nov 3, 2024