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NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs) AND Male infertility with teratozoospermia due to single gene mutation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 17, 2018
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:
RCV000785792.2

Allele description [Variation Report for NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs)]

NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs)

Genes:
ARMC2-AS1:ARMC2 antisense RNA 1 [Gene - HGNC]
ARMC2:armadillo repeat containing 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs)
HGVS:
  • NC_000006.12:g.108912492_108912496del
  • NM_001286609.2:c.789_793del
  • NM_032131.6:c.1284_1288delMANE SELECT
  • NP_001273538.1:p.Lys263fs
  • NP_115507.4:p.Lys428fs
  • NC_000006.11:g.109233695_109233699del
  • NM_032131.5:c.1284_1288delACAAA
Protein change:
K263fs
Links:
OMIM: 618424.0004; dbSNP: rs1562381747
NCBI 1000 Genomes Browser:
rs1562381747
Molecular consequence:
  • NM_001286609.2:c.789_793del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032131.6:c.1284_1288del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Male infertility with teratozoospermia due to single gene mutation
Identifiers:
MONDO: MONDO:0018394; MedGen: C4706677; Orphanet: 399808

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000924357Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes
no assertion criteria provided
Pathogenic
(Dec 17, 2018) 		unknowncase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedcase-control

Citations

PubMed

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.

Coutton C, Martinez G, Kherraf ZE, Amiri-Yekta A, Boguenet M, Saut A, He X, Zhang F, Cristou-Kent M, Escoffier J, Bidart M, Satre V, Conne B, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Bonhivers M, Hennebicq S, et al.

Am J Hum Genet. 2019 Feb 7;104(2):331-340. doi: 10.1016/j.ajhg.2018.12.013. Epub 2019 Jan 24.

PubMed [citation]
PMID:
30686508
PMCID:
PMC6372258

Details of each submission

From Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes, SCV000924357.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022