U.S. flag

An official website of the United States government

NM_025233.7(COASY):c.1388-2A>G AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 5, 2024
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:
RCV004790277.1

Allele description [Variation Report for NM_025233.7(COASY):c.1388-2A>G]

NM_025233.7(COASY):c.1388-2A>G

Gene:
COASY:Coenzyme A synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_025233.7(COASY):c.1388-2A>G
HGVS:
  • NC_000017.11:g.42565469A>G
  • NG_029442.1:g.3410A>G
  • NG_034110.1:g.8396A>G
  • NG_136593.1:g.218A>G
  • NM_001042529.3:c.1388-2A>G
  • NM_001042532.4:c.1475-2A>G
  • NM_025233.6:c.1388-2A>G
  • NM_025233.7:c.1388-2A>GMANE SELECT
  • NC_000017.10:g.40717487A>G
  • NM_025233.7:c.1388-2A>G
Molecular consequence:
  • NM_001042529.3:c.1388-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001042532.4:c.1475-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_025233.7:c.1388-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005413220Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 5, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.

Quaio CRDC, Chung CH, Perazzio SF, Dutra AP, Moreira CM, Filho GMN, Sacramento-Bobotis PR, Penna MG, de Souza RRF, Cintra VP, Carnavalli JEP, da Silva RA, Paixão D, Baratela WADR, Olivati C, Spolador GM, Santos MNP, Pintao MC, Fornari ARDS, Burger M, Ramalho RF, Pereira OJE, et al.

Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):364-372. doi: 10.1002/ajmg.c.31932. Epub 2021 Jul 16.

PubMed [citation]
PMID:
34269512

Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory.

Meng L, Attali R, Talmy T, Regev Y, Mizrahi N, Smirin-Yosef P, Vossaert L, Taborda C, Santana M, Machol I, Xiao R, Dai H, Eng C, Xia F, Tzur S.

Genet Med. 2023 Jun;25(6):100830. doi: 10.1016/j.gim.2023.100830. Epub 2023 Mar 16.

PubMed [citation]
PMID:
36939041
See all PubMed Citations (3)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV005413220.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

PM2, PVS1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024