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NM_183357.3(ADCY5):c.3064-15G>T AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 5, 2023
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:
RCV002129718.8

Allele description [Variation Report for NM_183357.3(ADCY5):c.3064-15G>T]

NM_183357.3(ADCY5):c.3064-15G>T

Gene:
ADCY5:adenylate cyclase 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.1
Genomic location:
Preferred name:
NM_183357.3(ADCY5):c.3064-15G>T
HGVS:
  • NC_000003.12:g.123291391C>A
  • NG_033882.1:g.162155G>T
  • NM_001199642.1:c.2014-15G>T
  • NM_001378259.1:c.3139-15G>T
  • NM_183357.3:c.3064-15G>TMANE SELECT
  • NC_000003.11:g.123010238C>A
Links:
dbSNP: rs372176847
NCBI 1000 Genomes Browser:
rs372176847
Molecular consequence:
  • NM_001199642.1:c.2014-15G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378259.1:c.3139-15G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_183357.3:c.3064-15G>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

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  • Rattus norvegicus cereblon (Crbn), mRNA
    Rattus norvegicus cereblon (Crbn), mRNA
    gi|77539060|ref|NM_001015003.2|
    Nucleotide
  • DNA Restriction-Modification Enzymes
    DNA Restriction-Modification Enzymes
    Systems consisting of two enzymes, a modification methylase and a restriction endonuclease. They are closely related in their specificity and protect the DNA of a given bacter...<br/>Year introduced: 1989
    MeSH
  • Lyases
    Lyases
    A class of enzymes that catalyze the cleavage of C-C, C-O, and C-N, and other bonds by other means than by hydrolysis or oxidation. (Enzyme Nomenclature, 1992) EC 4....<br/>Year introduced: DESMOLASES was see under LYASES 1963-1980
    MeSH
  • Deoxyribonucleases, Type II Site-Specific
    Deoxyribonucleases, Type II Site-Specific
    Enzyme systems containing a single subunit and requiring only magnesium for endonucleolytic activity. The corresponding modification methylases are separate enzymes. The syste...<br/>Year introduced: 1989
    MeSH
  • Radio
    Radio
    The transmission and reception of electric impulses or signals by means of electric waves without a connecting wire, or the use of these waves for the wireless transmission of...<br/>
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002407671Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Sep 5, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002407671.4

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

Last Updated: Sep 29, 2024