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NM_018253.3(YY1AP1):c.217C>T (p.Gln73Ter) AND Grange syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 14, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000417120.1

Allele description

NM_018253.3(YY1AP1):c.217C>T (p.Gln73Ter)

Gene:
YY1AP1:YY1 associated protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_018253.3(YY1AP1):c.217C>T (p.Gln73Ter)
HGVS:
  • NC_000001.11:g.155676622G>A
  • NM_001198899.1:c.217C>T
  • NM_001198900.1:c.217C>T
  • NM_001198901.1:c.250C>T
  • NM_001198902.1:c.250C>T
  • NM_001198903.1:c.664C>T
  • NM_001198904.1:c.664C>T
  • NM_001198905.1:c.250C>T
  • NM_001198906.2:c.448C>T
  • NM_018253.3:c.217C>T
  • NM_139118.2:c.448C>T
  • NM_139119.2:c.250C>T
  • NM_139121.2:c.52C>T
  • NP_001185828.1:p.Gln73Ter
  • NP_001185829.1:p.Gln73Ter
  • NP_001185830.1:p.Gln84Ter
  • NP_001185831.1:p.Gln84Ter
  • NP_001185832.1:p.Gln222Ter
  • NP_001185833.1:p.Gln222Ter
  • NP_001185834.1:p.Gln84Ter
  • NP_001185835.1:p.Gln150Ter
  • NP_060723.2:p.Gln73Ter
  • NP_620829.1:p.Gln150Ter
  • NP_620830.1:p.Gln84Ter
  • NP_620832.1:p.Gln18Ter
  • NC_000001.10:g.155646413G>A
Protein change:
Q150*; GLN222TER
Links:
OMIM: 607860.0005; dbSNP: rs1057519599
NCBI 1000 Genomes Browser:
rs1057519599
Molecular consequence:
  • NM_001198899.1:c.217C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001198900.1:c.217C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001198901.1:c.250C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001198902.1:c.250C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001198903.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001198904.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001198905.1:c.250C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001198906.2:c.448C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018253.3:c.217C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_139118.2:c.448C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_139119.2:c.250C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_139121.2:c.52C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Grange syndrome (GRNG)
Synonyms:
GRANGE OCCLUSIVE ARTERIAL SYNDROME
Identifiers:
MONDO: MONDO:0011243; MedGen: C1865267; Orphanet: 79094; OMIM: 602531

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494661OMIM
no assertion criteria provided
Pathogenic
(Feb 14, 2017) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.

Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BBA, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML; University of Washington Center for Mendelian Genomics., Bamshad MJ, Nickerson DA, Gornik HL, Ganesh SK, Braverman AC, Grange DK, Milewicz DM.

Am J Hum Genet. 2017 Jan 5;100(1):21-30. doi: 10.1016/j.ajhg.2016.11.008. Epub 2016 Dec 8.

PubMed [citation]
PMID:
27939641
PMCID:
PMC5223026

Details of each submission

From OMIM, SCV000494661.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a girl (DVD112) with features of Grange syndrome (GRNG; 602531), Guo et al. (2017) identified homozygosity for a c.664C-T transition (c.664C-T, NM_001198903.1) in exon 4 of the YY1AP1 gene, resulting in a gln222-to-ter (Q222X) substitution. The patient exhibited mild facial dysmorphism and brachydactyly of the hands and feet, but did not show bone fragility; in addition, CT angiography did not reveal any stenosis of the cerebral, renal, or other arteries, and echocardiography was normal.

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

Last Updated: Apr 18, 2020