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NM_012082.4(ZFPM2):c.302-2A>C AND ZFPM2-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 9, 2024
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:
RCV004746622.1

Allele description [Variation Report for NM_012082.4(ZFPM2):c.302-2A>C]

NM_012082.4(ZFPM2):c.302-2A>C

Gene:
ZFPM2:zinc finger protein, FOG family member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q23.1
Genomic location:
Preferred name:
NM_012082.4(ZFPM2):c.302-2A>C
HGVS:
  • NC_000008.11:g.105561361A>C
  • NG_011723.2:g.247443A>C
  • NM_001362836.2:c.143-2A>C
  • NM_001362837.2:c.-95-2A>C
  • NM_012082.4:c.302-2A>CMANE SELECT
  • NC_000008.10:g.106573589A>C
  • NM_012082.3:c.302-2A>C
Molecular consequence:
  • NM_001362836.2:c.143-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001362837.2:c.-95-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_012082.4:c.302-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
ZFPM2-related disorder
Synonyms:
ZFPM2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005362487PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Sep 9, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005362487.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ZFPM2 c.302-2A>C variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in ZFPM2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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

Last Updated: Oct 13, 2024