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NM_000545.8(HNF1A):c.1309+86TCAT[6] AND Maturity-onset diabetes of the young type 3

Germline classification:
Benign (1 submission)
Last evaluated:
May 18, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001421004.2

Allele description [Variation Report for NM_000545.8(HNF1A):c.1309+86TCAT[6]]

NM_000545.8(HNF1A):c.1309+86TCAT[6]

Gene:
HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_000545.8(HNF1A):c.1309+86TCAT[6]
HGVS:
  • NC_000012.12:g.120996827_120996828insTCATTCAT
  • NC_000012.12:g.120996828TCAT[6]
  • NG_011731.2:g.23083TCAT[6]
  • NM_000545.8:c.1309+86TCAT[6]MANE SELECT
  • NM_001306179.2:c.1309+86TCAT[6]
  • LRG_522t1:c.1309+85_1309+86insTCATTCAT
  • LRG_522:g.23083TCAT[6]
  • NC_000012.11:g.121434631TCAT[6]
  • NM_000545.5:c.1309+85_1309+86insTCATTCAT
  • NM_000545.8:c.1309+94_1309+101dupTCATTCATMANE SELECT
Links:
dbSNP: rs58371019
NCBI 1000 Genomes Browser:
rs58371019
Molecular consequence:
  • NM_000545.8:c.1309+86TCAT[6] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001306179.2:c.1309+86TCAT[6] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Maturity-onset diabetes of the young type 3
Synonyms:
Diabetes mellitus MODY type 3; MODY hepatocyte nuclear factor-1-alpha related; MODY type 3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010894; MedGen: C1838100; Orphanet: 552; OMIM: 600496

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001623467Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(May 18, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV001623467.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022