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NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter) AND Moyamoya disease with early-onset achalasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 16, 2018
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:
RCV000677376.1

Allele description [Variation Report for NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter)]

NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter)

Gene:
GUCY1A1:guanylate cyclase 1 soluble subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter)
HGVS:
  • NC_000004.12:g.155730112G>T
  • NG_034128.1:g.68403G>T
  • NM_000856.6:c.1954G>T
  • NM_001130682.3:c.1954G>TMANE SELECT
  • NM_001130683.4:c.1954G>T
  • NM_001130684.3:c.1954G>T
  • NM_001130685.3:c.1249G>T
  • NM_001256449.2:c.1954G>T
  • NP_000847.2:p.Gly652Ter
  • NP_001124154.1:p.Gly652Ter
  • NP_001124155.1:p.Gly652Ter
  • NP_001124156.1:p.Gly652Ter
  • NP_001124157.1:p.Gly417Ter
  • NP_001243378.1:p.Gly652Ter
  • NC_000004.11:g.156651264G>T
  • NM_000856.5:c.1954G>T
  • NM_000856.5:c.1594G>T
Protein change:
G417*; GLY652TER
Links:
OMIM: 139396.0007; dbSNP: rs1368733883
NCBI 1000 Genomes Browser:
rs1368733883
Molecular consequence:
  • NM_000856.6:c.1954G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130682.3:c.1954G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130683.4:c.1954G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130684.3:c.1954G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130685.3:c.1249G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001256449.2:c.1954G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Moyamoya disease with early-onset achalasia
Synonyms:
MOYAMOYA 6 WITH ACHALASIA; Moyamoya disease 6 with achalasia
Identifiers:
MONDO: MONDO:0014331; MedGen: C3810403; Orphanet: 401945; OMIM: 615750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000803639OMIM
no assertion criteria provided
Pathogenic
(Aug 16, 2018) 		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

Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension.

Wallace S, Guo DC, Regalado E, Mellor-Crummey L, Bamshad M, Nickerson DA, Dauser R, Hanchard N, Marom R, Martin E, Berka V, Sharina I, Ganesan V, Saunders D, Morris SA, Milewicz DM.

Clin Genet. 2016 Oct;90(4):351-60. doi: 10.1111/cge.12739. Epub 2016 Feb 18.

PubMed [citation]
PMID:
26777256
PMCID:
PMC4949143

Details of each submission

From OMIM, SCV000803639.1

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

Description

For discussion of the c.1594G-T transversion (c.1594G-T, NM_000856.5) in the GUCY1A3 gene, resulting in a gly652-to-ter (G652X; 139396.0008), that was found in compound heterozygous state in a patient with moyamoya disease and achalasia (MYMY6; 615750) by Wallace et al. (2016), see 139396.0006.

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

Last Updated: Aug 5, 2023