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NM_173560.4(RFX6):c.143C>T (p.Ala48Val) AND Monogenic diabetes

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 21, 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:
RCV001174492.2

Allele description [Variation Report for NM_173560.4(RFX6):c.143C>T (p.Ala48Val)]

NM_173560.4(RFX6):c.143C>T (p.Ala48Val)

Genes:
LOC127407129:RFX6 promoter region [Gene]
RFX6:regulatory factor X6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.1
Genomic location:
Preferred name:
NM_173560.4(RFX6):c.143C>T (p.Ala48Val)
HGVS:
  • NC_000006.12:g.116877418C>T
  • NG_027699.1:g.5206C>T
  • NM_173560.4:c.143C>TMANE SELECT
  • NP_775831.2:p.Ala48Val
  • NC_000006.11:g.117198581C>T
Protein change:
A48V
Links:
dbSNP: rs200522460
NCBI 1000 Genomes Browser:
rs200522460
Molecular consequence:
  • NM_173560.4:c.143C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Monogenic diabetes
Identifiers:
MONDO: MONDO:0015967; MedGen: C3888631

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001337631Personalized Diabetes Medicine Program, University of Maryland School of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Nov 21, 2018) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedresearch

Citations

PubMed

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN.

Nat Commun. 2017 Oct 12;8(1):888. doi: 10.1038/s41467-017-00895-9.

PubMed [citation]
PMID:
29026101
PMCID:
PMC5638866

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 Personalized Diabetes Medicine Program, University of Maryland School of Medicine, SCV001337631.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)

Description

ACMG criteria: BP4 (REVEL 0.056 + 10 predictors), BP1 (heterozygous LOF variants in RFX6 associated with reduced penetrance MODY: PMID: 29026101, majority of variants causing M-R syndrome are also LOF)= likely benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023