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NM_018043.7(ANO1):c.508G>A (p.Glu170Lys) AND Moyamoya disease 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 30, 2024
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:
RCV003492850.2

Allele description [Variation Report for NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)]

NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)

Gene:
ANO1:anoctamin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)
HGVS:
  • NC_000011.10:g.70103132G>A
  • NM_001378092.1:c.631G>A
  • NM_001378093.1:c.508G>A
  • NM_001378094.2:c.508G>A
  • NM_001378095.2:c.508G>A
  • NM_001378096.2:c.508G>A
  • NM_001378097.2:c.442-867G>A
  • NM_018043.7:c.508G>AMANE SELECT
  • NP_001365021.1:p.Glu211Lys
  • NP_001365022.1:p.Glu170Lys
  • NP_001365023.1:p.Glu170Lys
  • NP_001365024.1:p.Glu170Lys
  • NP_001365025.1:p.Glu170Lys
  • NP_060513.5:p.Glu170Lys
  • NC_000011.9:g.69949238G>A
  • NM_018043.5:c.508G>A
  • NM_018043.6:c.508G>A
  • NR_030691.2:n.653G>A
Protein change:
E170K; GLU170LYS
Links:
OMIM: 610108.0003
Molecular consequence:
  • NM_001378097.2:c.442-867G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378092.1:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378093.1:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378094.2:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378095.2:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378096.2:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018043.7:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_030691.2:n.653G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Moyamoya disease 7 (MYMY7)
Identifiers:
MONDO: MONDO:0958202; MedGen: C5882748; OMIM: 620687

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004242177OMIM
no assertion criteria provided
Pathogenic
(Jan 30, 2024)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.

Pinard A, Ye W, Fraser SM, Rosenfeld JA, Pichurin P, Hickey SE, Guo D, Cecchi AC, Boerio ML, Guey S, Aloui C, Lee K, Kraemer M, Alyemni SO; University of Washington Center for Mendelian Genomics., Bamshad MJ, Nickerson DA, Tournier-Lasserve E, Haider S, Jin SC, Smith ER, Kahle KT, et al.

Brain. 2023 Sep 1;146(9):3616-3623. doi: 10.1093/brain/awad172. Erratum in: Brain. 2023 Sep 1;146(9):e74. doi: 10.1093/brain/awad270.

PubMed [citation]
PMID:
37253099
PMCID:
PMC10473557

Details of each submission

From OMIM, SCV004242177.2

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

Description

In boy, born of consanguineous parents (family Baylor 1), who was diagnosed with moyamoya disease-7 (MYMY7; 620687) at 12.5 years of age, Pinard et al. (2023) identified a homozygous c.508G-A transition (c.508G-A, NM_018043.6) in the ANO1 gene, resulting in a glu170-to-lys (E170K) substitution in the cytoplasmic domain. The mutation, which was found by exome sequencing, was not present in the gnomAD database. The patient's sister reportedly was similarly affected, but she did not undergo genetic testing. In addition, the genotypes of the unaffected parents were not reported and familial segregation could not be confirmed. Electrophysiologic studies of HEK293 cells transfected with the mutation showed that the mutant channel had increased Ca(2+) sensitivity resulting in increased Cl- conductance at lower intracellular Ca(2+) levels compared to controls. The findings were consistent with a gain-of-function effect.

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

Last Updated: Nov 10, 2024