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NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2018
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:
RCV000713792.2

Allele description [Variation Report for NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter)]

NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter)

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.370C>T (p.Gln124Ter)
HGVS:
  • NC_000012.12:g.120988876C>T
  • NG_011731.2:g.15131C>T
  • NM_000545.8:c.370C>TMANE SELECT
  • NM_001306179.2:c.370C>T
  • NP_000536.6:p.Gln124Ter
  • NP_001293108.2:p.Gln124Ter
  • LRG_522t1:c.370C>T
  • LRG_522:g.15131C>T
  • NC_000012.11:g.121426679C>T
  • NM_000545.5:c.370C>T
Protein change:
Q124*
Links:
dbSNP: rs1565883507
NCBI 1000 Genomes Browser:
rs1565883507
Molecular consequence:
  • NM_000545.8:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001306179.2:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000844424Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(May 4, 2018) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.

Johansen A, Ek J, Mortensen HB, Pedersen O, Hansen T.

J Clin Endocrinol Metab. 2005 Aug;90(8):4607-14. Epub 2005 May 31.

PubMed [citation]
PMID:
15928245

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV000844424.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024