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NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 17, 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:
RCV000030521.4

Allele description [Variation Report for NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)]

NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)

Gene:
HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
HGVS:
  • NC_000017.11:g.37744745G>A
  • NG_013019.2:g.5362C>T
  • NM_000458.3(HNF1B):c.140C>T
  • NM_000458.4:c.140C>TMANE SELECT
  • NM_001165923.4:c.140C>T
  • NM_001304286.2:c.140C>T
  • NP_000449.1:p.Pro47Leu
  • NP_001159395.1:p.Pro47Leu
  • NP_001291215.1:p.Pro47Leu
  • NC_000017.10:g.36104736G>A
  • NC_000017.10:g.36104736G>A
  • NM_000458.2:c.140C>T
  • NM_000458.3(HNF1B):c.140C>T
  • NM_000458.3:c.140C>T
  • NM_000458.4:c.140C>T
Protein change:
P47L
Links:
Molecular consequence:
  • NM_000458.4:c.140C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165923.4:c.140C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304286.2:c.140C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000053192Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jan 17, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053192.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: The variant, HNF1B (legacy name TCF2) c.140C>T (p.Pro47Leu) results in a non-conservative amino acid change located in the N terminal of Hepatocyte nuclear factor 1 domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.7e-05 in 245772 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.140C>T in individuals affected with Maturity Onset Diabetes of the Young 5 (Renal Cysts and Diabetes Syndrome) and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Nov 3, 2024