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NM_015047.3(EMC1):c.954+16A>G AND Cerebellar atrophy, visual impairment, and psychomotor retardation;

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 30, 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:
RCV001658228.2

Allele description [Variation Report for NM_015047.3(EMC1):c.954+16A>G]

NM_015047.3(EMC1):c.954+16A>G

Genes:
EMC1-AS1:EMC1 antisense RNA 1 [Gene - HGNC]
EMC1:ER membrane protein complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_015047.3(EMC1):c.954+16A>G
HGVS:
  • NC_000001.11:g.19239802T>C
  • NG_032948.1:g.16758A>G
  • NM_001271427.2:c.954+16A>G
  • NM_001271428.2:c.954+16A>G
  • NM_001271429.2:c.888+16A>G
  • NM_001375820.1:c.954+16A>G
  • NM_001375821.1:c.954+16A>G
  • NM_015047.3:c.954+16A>GMANE SELECT
  • NC_000001.10:g.19566296T>C
Links:
dbSNP: rs2273046
NCBI 1000 Genomes Browser:
rs2273046
Molecular consequence:
  • NM_001271427.2:c.954+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271428.2:c.954+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271429.2:c.888+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375820.1:c.954+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375821.1:c.954+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015047.3:c.954+16A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cerebellar atrophy, visual impairment, and psychomotor retardation;
Synonyms:
Cerebellar atrophy, visual impairment, and psychomotor retardation
Identifiers:
MONDO: MONDO:0014811; MedGen: C4225172; OMIM: 616875

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001876019Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 30, 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, SCV001876019.1

#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