GRCh37/hg19 1q21.2(chr1:147245049-147246661) AND Atrial fibrillation, familial, 11

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000767777.1

Allele description [Variation Report for GRCh37/hg19 1q21.2(chr1:147245049-147246661)]

GRCh37/hg19 1q21.2(chr1:147245049-147246661)

Gene:
GJA5:gap junction protein alpha 5 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q21.2
Genomic location:
Chr1: 147245049 - 147246661 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1q21.2(chr1:147245049-147246661)
HGVS:
NC_000001.10:g.(?_147245049)_(147246661_?)del
Observations:
1

Condition(s)

Name:
Atrial fibrillation, familial, 11 (ATFB11)
Identifiers:
MONDO: MONDO:0013544; MedGen: C3279693; OMIM: 614049

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000898399Baylor Geneticscriteria provided, single submitter
Pathogenic
(Nov 1, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedclinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Baylor Genetics, SCV000898399.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Oct 7, 2021

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