NM_020297.3(ABCC9):c.4535C>T (p.Thr1512Met) AND multiple conditions

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000578509.1

Allele description [Variation Report for NM_020297.3(ABCC9):c.4535C>T (p.Thr1512Met)]

NM_020297.3(ABCC9):c.4535C>T (p.Thr1512Met)

Gene:
ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_020297.3(ABCC9):c.4535C>T (p.Thr1512Met)
HGVS:
  • NC_000012.12:g.21801159G>A
  • NG_012819.1:g.140536C>T
  • NM_020297.3:c.4535C>T
  • NP_064693.2:p.Thr1512Met
  • LRG_377:g.140536C>T
  • NC_000012.11:g.21954093G>A
Protein change:
T1512M
Links:
dbSNP: rs554811993
NCBI 1000 Genomes Browser:
rs554811993
Molecular consequence:
  • NM_020297.3:c.4535C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1O (CMD1O)
Synonyms:
CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
Identifiers:
MONDO: MONDO:0012062; MedGen: C1837839; Orphanet: 154; OMIM: 608569
Name:
Atrial fibrillation, familial, 12 (ATFB12)
Identifiers:
MONDO: MONDO:0013545; MedGen: C3279695; OMIM: 614050

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000681393GenomeConnect, ClinGenno assertion providednot providedunknownphenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000681393.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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