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NM_197968.4(ZMYM2):c.3510_3511dup (p.Phe1171fs) AND Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 22, 2023
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:
RCV003984954.2

Allele description [Variation Report for NM_197968.4(ZMYM2):c.3510_3511dup (p.Phe1171fs)]

NM_197968.4(ZMYM2):c.3510_3511dup (p.Phe1171fs)

Gene:
ZMYM2:zinc finger MYM-type containing 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_197968.4(ZMYM2):c.3510_3511dup (p.Phe1171fs)
HGVS:
  • NC_000013.11:g.20082072_20082073dup
  • NG_023348.2:g.128403_128404dup
  • NG_023348.3:g.223234_223235dup
  • NM_001190964.4:c.3510_3511dup
  • NM_001190965.4:c.3510_3511dup
  • NM_001353157.2:c.3510_3511dup
  • NM_001353159.2:c.3510_3511dup
  • NM_001353161.3:c.3315_3316dup
  • NM_001353162.3:c.3510_3511dup
  • NM_001353163.2:c.3249_3250dup
  • NM_001353164.2:c.3510_3511dup
  • NM_003453.6:c.3510_3511dup
  • NM_197968.4:c.3510_3511dupMANE SELECT
  • NP_001177893.1:p.Phe1171fs
  • NP_001177894.1:p.Phe1171fs
  • NP_001340086.1:p.Phe1171fs
  • NP_001340088.1:p.Phe1171fs
  • NP_001340090.1:p.Phe1106fs
  • NP_001340091.1:p.Phe1171fs
  • NP_001340092.1:p.Phe1084fs
  • NP_001340093.1:p.Phe1171fs
  • NP_003444.1:p.Phe1171fs
  • NP_932072.1:p.Phe1171fs
  • NC_000013.10:g.20656212_20656213dup
  • NR_148365.2:n.3817_3818dup
Protein change:
F1084fs
Molecular consequence:
  • NM_001190964.4:c.3510_3511dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001190965.4:c.3510_3511dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353157.2:c.3510_3511dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353159.2:c.3510_3511dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353161.3:c.3315_3316dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353162.3:c.3510_3511dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353163.2:c.3249_3250dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353164.2:c.3510_3511dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003453.6:c.3510_3511dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_197968.4:c.3510_3511dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_148365.2:n.3817_3818dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
Identifiers:
MONDO: MONDO:0859190; MedGen: C5561984; OMIM: 619522

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004801069MVZ Medizinische Genetik Mainz
criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)		Uncertain significance
(Feb 22, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004801069.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024