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NM_021116.4(ADCY1):c.3090G>A (p.Arg1030=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 23, 2017
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:
RCV000607464.4

Allele description [Variation Report for NM_021116.4(ADCY1):c.3090G>A (p.Arg1030=)]

NM_021116.4(ADCY1):c.3090G>A (p.Arg1030=)

Gene:
ADCY1:adenylate cyclase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p12.3
Genomic location:
Preferred name:
NM_021116.4(ADCY1):c.3090G>A (p.Arg1030=)
HGVS:
  • NC_000007.14:g.45713725G>A
  • NG_034198.1:g.144586G>A
  • NM_021116.4:c.3090G>AMANE SELECT
  • NP_066939.1:p.Arg1030=
  • LRG_1172t1:c.3090G>A
  • LRG_1172:g.144586G>A
  • LRG_1172p1:p.Arg1030=
  • NC_000007.13:g.45753324G>A
  • NM_021116.2:c.3090G>A
  • p.Arg1030Arg
Links:
dbSNP: rs2293106
NCBI 1000 Genomes Browser:
rs2293106
Molecular consequence:
  • NM_021116.4:c.3090G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
92

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000731845Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(Aug 23, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided9392not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000731845.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided93not providednot providedclinical testing PubMed (1)

Description

p.Arg1030Arg in exon 20 of ADCY1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 31.47% (3265/10374 ) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs2293106).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided93not provided92not provided

Last Updated: Feb 28, 2024