NM_197968.4(ZMYM2):c.2165T>A (p.Leu722Ter) AND Congenital anomaly of kidney and urinary tract

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 4, 2020
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:
RCV001849772.1

Allele description [Variation Report for NM_197968.4(ZMYM2):c.2165T>A (p.Leu722Ter)]

NM_197968.4(ZMYM2):c.2165T>A (p.Leu722Ter)

Gene:
ZMYM2:zinc finger MYM-type containing 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_197968.4(ZMYM2):c.2165T>A (p.Leu722Ter)
HGVS:
  • NC_000013.11:g.20036782T>A
  • NG_023348.2:g.83113T>A
  • NM_001190964.4:c.2165T>A
  • NM_001190965.4:c.2165T>A
  • NM_001353157.2:c.2165T>A
  • NM_001353159.2:c.2165T>A
  • NM_001353161.3:c.1970T>A
  • NM_001353162.3:c.2165T>A
  • NM_001353163.2:c.1904T>A
  • NM_001353164.2:c.2165T>A
  • NM_001353165.2:c.2165T>A
  • NM_003453.6:c.2165T>A
  • NM_197968.4:c.2165T>AMANE SELECT
  • NP_001177893.1:p.Leu722Ter
  • NP_001177894.1:p.Leu722Ter
  • NP_001340086.1:p.Leu722Ter
  • NP_001340088.1:p.Leu722Ter
  • NP_001340090.1:p.Leu657Ter
  • NP_001340091.1:p.Leu722Ter
  • NP_001340092.1:p.Leu635Ter
  • NP_001340093.1:p.Leu722Ter
  • NP_001340094.1:p.Leu722Ter
  • NP_003444.1:p.Leu722Ter
  • NP_932072.1:p.Leu722Ter
  • NC_000013.10:g.20610922T>A
  • NM_001190965.1:c.2165T>A
  • NR_148365.2:n.2359T>A
Protein change:
L635*
Links:
dbSNP: rs2140369057
NCBI 1000 Genomes Browser:
rs2140369057
Molecular consequence:
  • NR_148365.2:n.2359T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001190964.4:c.2165T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001190965.4:c.2165T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353157.2:c.2165T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353159.2:c.2165T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353161.3:c.1970T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353162.3:c.2165T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353163.2:c.1904T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353164.2:c.2165T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353165.2:c.2165T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003453.6:c.2165T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_197968.4:c.2165T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Congenital anomaly of kidney and urinary tract
Synonyms:
Congenital anomalies of kidney and urinary tract; Congenital anomalies of the kidney and urinary tract
Identifiers:
MONDO: MONDO:0019719; MeSH: C566906; MedGen: C1968949; OMIM: PS610805

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106818Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Likely pathogenic
(Sep 4, 2020) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, et al.

Am J Hum Genet. 2020 Oct 1;107(4):727-742. doi: 10.1016/j.ajhg.2020.08.013. Epub 2020 Sep 4.

PubMed [citation]
PMID:
32891193
PMCID:
PMC7536580

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106818.1

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

Last Updated: Dec 24, 2023