NM_000545.8(HNF1A):c.1310-2A>G AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 30, 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:: RCV001536027.5

Allele description [Variation Report for NM_000545.8(HNF1A):c.1310-2A>G]

NM_000545.8(HNF1A):c.1310-2A>G

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.1310-2A>G

HGVS:

NC_000012.12:g.120997472A>G
NG_011731.2:g.23727A>G
NM_000545.8:c.1310-2A>GMANE SELECT
NM_001306179.2:c.1310-2A>G
NM_001406915.1:c.1309+730A>G
LRG_522:g.23727A>G
NC_000012.11:g.121435275A>G
NM_000545.6:c.1310-2A>G

Links:

dbSNP: rs2135847311

NCBI 1000 Genomes Browser:

rs2135847311

Molecular consequence:

NM_001406915.1:c.1309+730A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000545.8:c.1310-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001306179.2:c.1310-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Diabetes mellitus type 1 (T1D)
Synonyms:: Type I diabetes mellitus
Identifiers:: MONDO: MONDO:0005147; MedGen: C0011854; OMIM: 222100; Human Phenotype Ontology: HP:0100651

Name:: Type 1 diabetes mellitus 20 (T1D20)
Synonyms:: Diabetes mellitus, insulin-dependent, 20
Identifiers:: MONDO: MONDO:0012919; MedGen: C2675866; OMIM: 612520

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

Name:: Type 2 diabetes mellitus
Synonyms:: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
Identifiers:: MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978

Name:: Hepatic adenomas, familial
Synonyms:: LIVER CELL ADENOMAS, FAMILIAL; HEPATIC ADENOMA, SOMATIC
Identifiers:: MONDO: MONDO:0007718; MedGen: C1840646; OMIM: 142330

Name:: Nonpapillary renal cell carcinoma
Identifiers:: MONDO: MONDO:0007763; MedGen: CN074294; Orphanet: 422526; OMIM: 144700

Recent activity

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PREDICTED: Homo sapiens islet cell autoantigen 1 (ICA1), transcript variant X11,...
PREDICTED: Homo sapiens islet cell autoantigen 1 (ICA1), transcript variant X11, mRNA
gi|2462614088|ref|XM_054358083.1|

Nucleotide
Oxymeris areolata isolate KVG41a cytochrome oxidase subunit 1 gene, partial cds;...
Oxymeris areolata isolate KVG41a cytochrome oxidase subunit 1 gene, partial cds; mitochondrial
gi|1781371483|gb|MN657949.1|

Nucleotide
Oxymeris areolata isolate KVG41 cytochrome oxidase subunit 1 gene, partial cds; ...
Oxymeris areolata isolate KVG41 cytochrome oxidase subunit 1 gene, partial cds; mitochondrial
gi|1781371481|gb|MN657948.1|

Nucleotide
Oxymeris areolata isolate KVG41 16S ribosomal RNA gene, partial sequence; mitoch...
Oxymeris areolata isolate KVG41 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|1781371215|gb|MN657787.1|

Nucleotide
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Dolichandrone columnaris]
gi|1012443545|dbj|BAU68622.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001752719	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 30, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001752719

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 30, 2021)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Fulgent Genetics, Fulgent Genetics, SCV001752719.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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