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NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 1, 2019
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:
RCV000853018.1

Allele description [Variation Report for NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro)]

NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro)

Gene:
AKAP9:A-kinase anchoring protein 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro)
HGVS:
  • NC_000007.14:g.92070953T>C
  • NG_011623.1:g.135079T>C
  • NM_001379277.1:c.1201T>C
  • NM_005751.5:c.6556T>CMANE SELECT
  • NM_147185.3:c.6532T>C
  • NP_001366206.1:p.Ser401Pro
  • NP_005742.4:p.Ser2186Pro
  • NP_005742.4:p.Ser2186Pro
  • NP_671714.1:p.Ser2178Pro
  • LRG_331t1:c.6556T>C
  • LRG_331:g.135079T>C
  • LRG_331p1:p.Ser2186Pro
  • NC_000007.13:g.91700267T>C
  • NM_005751.4:c.6556T>C
Protein change:
S2178P
Links:
dbSNP: rs76177450
NCBI 1000 Genomes Browser:
rs76177450
Molecular consequence:
  • NM_001379277.1:c.1201T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005751.5:c.6556T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147185.3:c.6532T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000995775Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Apr 1, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not 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 Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego, SCV000995775.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Dec 22, 2024