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NM_003396.3(WNT9B):c.335-7G>C AND WNT9B-related disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 19, 2019
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:
RCV003926782.2

Allele description [Variation Report for NM_003396.3(WNT9B):c.335-7G>C]

NM_003396.3(WNT9B):c.335-7G>C

Genes:
WNT9B:Wnt family member 9B [Gene - OMIM - HGNC]
LRRC37A2:leucine rich repeat containing 37 member A2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.32
Genomic location:
Preferred name:
NM_003396.3(WNT9B):c.335-7G>C
HGVS:
  • NC_000017.11:g.46875094G>C
  • NG_029164.3:g.28493G>C
  • NG_029164.4:g.46907G>C
  • NM_001320458.2:c.335-7G>C
  • NM_003396.3:c.335-7G>CMANE SELECT
  • NC_000017.10:g.44952460G>C
  • NM_003396.2:c.335-7G>C
Molecular consequence:
  • NM_001320458.2:c.335-7G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003396.3:c.335-7G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
WNT9B-related disorder
Synonyms:
WNT9B-related condition
Identifiers:

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  • Synaptic Membranes
    Synaptic Membranes
    Cell membranes associated with synapses. Both presynaptic and postsynaptic membranes are included along with their integral or tightly associated specializations for the relea...<br/>Year introduced: 1973(1970)
    MeSH
  • Extracellular Fluid
    Extracellular Fluid
    The fluid of the body that is outside of CELLS. It is the external environment for the cells.<br/>Year introduced: 2004
    MeSH
  • Erythrocyte Inclusions
    Erythrocyte Inclusions
    Pathologic inclusions occurring in erythrocytes.<br/>Year introduced: 1991(1975)
    MeSH
  • Cell Body
    Cell Body
    The portion of a cell that contains the NUCLEUS and CYTOPLASM but not CELL SURFACE EXTENSIONS such as FLAGELLA and NEURITES.<br/>Year introduced: 2015
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004745615PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely benign
(Sep 19, 2019) 		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, SCV004745615.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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

Last Updated: Oct 13, 2024