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t(1;5)(q25;q12) AND Endometriosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 30, 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:
RCV000999464.1

Allele description [Variation Report for t(1;5)(q25;q12)]

t(1;5)(q25;q12)

Gene:
FAM163A:family with sequence similarity 163 member A [Gene - OMIM - HGNC]
Variant type:
Translocation
Cytogenetic location:
1q25.2
Genomic location:
Preferred name:
t(1;5)(q25;q12)
Other names:
46,XX,t(1;5)(q25;q12).seq[GRCh37]t(1;5)(1pter->1q25.2(179,785,316)::TATTTAAGGAAG::5q13.1(66,878,645)->5qter;5pter->5q13.1(66,878,65{1-4})::1q25.2(179,785,30{6-9})->1qter)
HGVS:
    Functional consequence:
    unknown functional consequence

    Condition(s)

    Name:
    Endometriosis
    Synonyms:
    Endometriosis (disease)
    Identifiers:
    MONDO: MONDO:0005133; MeSH: D004715; MedGen: C0014175; Human Phenotype Ontology: HP:0030127

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001150317Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana - Developmental Genome Anatomy Project (DGAP)
    criteria provided, single submitter

    (ACMG Guidelines, 2015)    		Uncertain significance
    (Oct 30, 2019)     		germlineresearch

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyes1not providednot providednot providednot providedresearch

    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 Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana - Developmental Genome Anatomy Project (DGAP), SCV001150317.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedresearch PubMed (1)

    Description

    Sequencing refines the karyotype to 46,XX,t(1;5)(q25.2;q13.1). The breakpoint at 1q25.2 is located in the 3' UTR in exon 6/6 of FAM163A (NM_001329713.1), +1,992 bp 3' to the stop codon. FAM163A is neither a disease associated gene nor ClinGen curated.

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

    Last Updated: Apr 23, 2022