NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 30, 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:: RCV002247247.2

Allele description [Variation Report for NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)]

NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)

Gene:

WNT10A:Wnt family member 10A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)

HGVS:

NC_000002.12:g.218882368C>A
NG_012179.1:g.6836C>A
NM_025216.3:c.321C>AMANE SELECT
NP_079492.2:p.Cys107Ter
NC_000002.11:g.219747090C>A
NM_025216.2:c.321C>A

Protein change:

C107*; CYS107TER

Links:

OMIM: 606268.0002; dbSNP: rs121908119

NCBI 1000 Genomes Browser:

rs121908119

Molecular consequence:

NM_025216.3:c.321C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002516173	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (Mar 30, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002516173

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(Mar 30, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV002516173.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

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