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NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 18, 2019
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:
RCV001817879.4

Allele description [Variation Report for NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs)]

NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs)

Gene:
HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs)
HGVS:
  • NC_000012.12:g.120978875_120978885del
  • NG_011731.2:g.5130_5140del
  • NM_000545.8:c.107_117delMANE SELECT
  • NM_001306179.2:c.107_117del
  • NP_000536.6:p.Tyr36fs
  • NP_001293108.2:p.Tyr36fs
  • LRG_522:g.5130_5140del
  • NC_000012.11:g.121416678_121416688del
  • NM_000545.6:c.107_117del
Protein change:
Y36fs
Links:
dbSNP: rs2135819653
NCBI 1000 Genomes Browser:
rs2135819653
Molecular consequence:
  • NM_000545.8:c.107_117del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001306179.2:c.107_117del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002067299Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 18, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Genetic Services Laboratory, University of Chicago, SCV002067299.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

DNA sequence analysis of the HNF1A gene demonstrated a 11 base pair deletion in exon 1, c.107_117del. This pathogenic sequence change results in an amino acid frameshift and creates a premature stop codon 19 amino acids downstream of the mutation, p.Tyr36Trpfs*20. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated HNF1A protein with potentially abnormal function.

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

Last Updated: Dec 24, 2023