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GRCh37/hg19 3p14.1(chr3:67610844-69023278)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 9, 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:
RCV001795850.4

Allele description [Variation Report for GRCh37/hg19 3p14.1(chr3:67610844-69023278)x1]

GRCh37/hg19 3p14.1(chr3:67610844-69023278)x1

Genes:
TAFA1:TAFA chemokine like family member 1 [Gene - OMIM - HGNC]
TAFA4:TAFA chemokine like family member 4 [Gene - OMIM - HGNC]
SUCLG2:succinate-CoA ligase GDP-forming subunit beta [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3p14.1
Genomic location:
Chr3: 67610844 - 69023278 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3p14.1(chr3:67610844-69023278)x1
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002037174Illumina Laboratory Services, Illumina
    criteria provided, single submitter

    (ICSL CNVClassificationCriteria Aug2020)    		Uncertain significance
    (Jun 9, 2021)     		unknownclinical testing

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

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Citations

    PubMed

    The human genome browser at UCSC.

    Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D.

    Genome Res. 2002 Jun;12(6):996-1006.

    PubMed [citation]
    PMID:
    12045153
    PMCID:
    PMC186604

    Details of each submission

    From Illumina Laboratory Services, Illumina, SCV002037174.1

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

    Description

    This CNV is an inherited 1.4 Mb deletion of 3p14.1 on chromosome 3, (seq[GRCh37]del(3)(p14.1); chr3:g.67610844_69023278del). This CNV constitutes a loss affecting three protein-coding genes: TAFA1, TAFA4 and SUCLG2. Patients with similar losses in this region have not been reported in the peer-reviewed literature. A small number of both smaller and larger deletions in the region are observed in cases in the human genome browser at UCSC (Kent et al. 2002), but these variants are considered of uncertain significance and have not been associated with a consistent phenotype. At least one overlapping deletion has been observed in controls. Based on the available evidence this CNV is classified as a variant of uncertain significance.

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

    Last Updated: Apr 9, 2023