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NM_004056.6(CA8):c.-54A>C AND Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV001554753.2

Allele description [Variation Report for NM_004056.6(CA8):c.-54A>C]

NM_004056.6(CA8):c.-54A>C

Gene:
CA8:carbonic anhydrase 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q12.1
Genomic location:
Preferred name:
NM_004056.6(CA8):c.-54A>C
HGVS:
  • NC_000008.11:g.60281201T>G
  • NG_023193.2:g.5195A>C
  • NM_001321837.2:c.-54A>C
  • NM_001321838.2:c.-54A>C
  • NM_001321839.2:c.-54A>C
  • NM_004056.6:c.-54A>CMANE SELECT
  • NC_000008.10:g.61193760T>G
  • NR_135821.2:n.200A>C
Links:
dbSNP: rs10101374
NCBI 1000 Genomes Browser:
rs10101374
Molecular consequence:
  • NM_001321837.2:c.-54A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001321838.2:c.-54A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001321839.2:c.-54A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004056.6:c.-54A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_135821.2:n.200A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 (SCAR34)
Synonyms:
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34
Identifiers:
MONDO: MONDO:0013188; MedGen: C2750509; Orphanet: 1766; OMIM: 613227

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001776056Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 14, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Genome-Nilou Lab, SCV001776056.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024