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NM_002734.5(PRKAR1A):c.770-24G>A AND Acrodysostosis 1 with or without hormone resistance

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 25, 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:
RCV001789485.2

Allele description [Variation Report for NM_002734.5(PRKAR1A):c.770-24G>A]

NM_002734.5(PRKAR1A):c.770-24G>A

Gene:
PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q24.2
Genomic location:
Preferred name:
NM_002734.5(PRKAR1A):c.770-24G>A
HGVS:
  • NC_000017.11:g.68528846G>A
  • NG_007093.3:g.120224G>A
  • NM_001276289.2:c.770-24G>A
  • NM_001276290.1:c.770-24G>A
  • NM_001278433.2:c.770-24G>A
  • NM_001369389.1:c.770-24G>A
  • NM_001369390.1:c.770-24G>A
  • NM_002734.5:c.770-24G>AMANE SELECT
  • NM_212471.3:c.770-24G>A
  • NM_212472.2:c.770-24G>A
  • LRG_514t2:c.770-24G>A
  • LRG_514:g.120224G>A
  • NC_000017.10:g.66524987G>A
Links:
dbSNP: rs2302230
NCBI 1000 Genomes Browser:
rs2302230
Molecular consequence:
  • NM_001276289.2:c.770-24G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276290.1:c.770-24G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278433.2:c.770-24G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369389.1:c.770-24G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369390.1:c.770-24G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002734.5:c.770-24G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_212471.3:c.770-24G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_212472.2:c.770-24G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Acrodysostosis 1 with or without hormone resistance (ACRDYS1)
Synonyms:
Acrodysplasia; Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome; Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007044; MedGen: C3276228; Orphanet: 280651; OMIM: 101800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002031845Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Oct 25, 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, SCV002031845.1

#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