NM_018995.3(MOV10L1):c.3095_3098del (p.Pro1032fs) AND Non-obstructive azoospermia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 16, 2021
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:: RCV002283562.1

Allele description [Variation Report for NM_018995.3(MOV10L1):c.3095_3098del (p.Pro1032fs)]

NM_018995.3(MOV10L1):c.3095_3098del (p.Pro1032fs)

Gene:

MOV10L1:Mov10 like RNA helicase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q13.33

Genomic location:

Preferred name:

NM_018995.3(MOV10L1):c.3095_3098del (p.Pro1032fs)

HGVS:

NC_000022.11:g.50158085_50158088del
NM_001164104.2:c.3095_3098del
NM_001164105.2:c.3035_3038del
NM_001164106.1:c.476_479del
NM_018995.3:c.3095_3098delMANE SELECT
NP_001157576.1:p.Pro1032fs
NP_001157577.1:p.Pro1012fs
NP_001157578.1:p.Pro159fs
NP_061868.1:p.Pro1032fs
NC_000022.10:g.50596514_50596517del
NM_018995.3:c.3094_3097delMANE SELECT

Protein change:

P1012fs

Links:

OMIM: 605794.0002; dbSNP: rs2147023849

NCBI 1000 Genomes Browser:

rs2147023849

Molecular consequence:

NM_001164104.2:c.3095_3098del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164105.2:c.3035_3038del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164106.1:c.476_479del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018995.3:c.3095_3098del - 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
SCV002104254	Lin-Yu Lu Lab, Zhejiang University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 16, 2021)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002104254

Lin-Yu Lu Lab, Zhejiang University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 16, 2021)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Lin-Yu Lu Lab, Zhejiang University, SCV002104254.1

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

Description

The affected male contains two variants in trans: NM_018995.3:c.3094_3097del and NM_018995.3:c.2447G>T

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

Last Updated: Dec 24, 2023

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