NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs) AND Non-obstructive azoospermia

Germline classification:: Pathogenic (1 submission)
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:: RCV001544513.1

Allele description [Variation Report for NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs)]

NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs)

Gene:

ZSWIM7:zinc finger SWIM-type containing 7 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p12

Genomic location:

Preferred name:

NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs)

HGVS:

NC_000017.11:g.15981114_15981115del
NM_001042697.2:c.231_232delMANE SELECT
NM_001042698.2:c.231_232del
NP_001036162.1:p.Cys78fs
NP_001036163.1:p.Cys78fs
NC_000017.10:g.15884428_15884429del
NM_001042697.1:c.231_232del

Protein change:

C78fs

Links:

OMIM: 614535.0002; dbSNP: rs368517882

NCBI 1000 Genomes Browser:

rs368517882

Molecular consequence:

NM_001042697.2:c.231_232del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042698.2:c.231_232del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Non-obstructive azoospermia
Identifiers:: MedGen: C4021107; Human Phenotype Ontology: HP:0011961

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001478375	Molecular and Cell Genetics Laboratory, University of Science and Technology of China	no assertion criteria provided	Pathogenic	not applicable	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001478375

Molecular and Cell Genetics Laboratory, University of Science and Technology of China

no assertion criteria provided

Pathogenic

not applicable

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Molecular and Cell Genetics Laboratory, University of Science and Technology of China, SCV001478375.1

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

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

Last Updated: Dec 24, 2023

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