U.S. flag

An official website of the United States government

GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3 AND VATER association

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000519182.1

Allele description [Variation Report for GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3]

GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3

Genes:
CCDC74A:coiled-coil domain containing 74A [Gene - HGNC]
MZT2A:mitotic spindle organizing protein 2A [Gene - OMIM - HGNC]
TUBA3D:tubulin alpha 3d [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2q21.1
Genomic location:
Chr2: 132140614 - 132312325 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3
HGVS:

    Condition(s)

    Name:
    VATER association
    Synonyms:
    VACTERL/vater association
    Identifiers:
    MONDO: MONDO:0008642; MedGen: C4225671; Orphanet: 887; OMIM: 192350

    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
    SCV000537141Reutter Lab, Institute of Human Genetics, University Hospital Bonn
    no assertion criteria provided
    		Likely benignpaternalresearch

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedpaternalyesnot providednot providednot providednot providednot providedresearch

    Details of each submission

    From Reutter Lab, Institute of Human Genetics, University Hospital Bonn, SCV000537141.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedresearchnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1paternalyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Nov 29, 2022