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NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs) AND Spermatogenic failure 38

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 15, 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:
RCV000771006.1

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:
Spermatogenic failure 38
Identifiers:
MONDO: MONDO:0032748; MedGen: C5193095; OMIM: 618433

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000902510OMIM
no assertion criteria provided
Pathogenic
(May 15, 2019) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

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 OMIM, SCV000902510.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a man (ARMC2_4) with primary infertility due to multiple morphologic abnormalities of the flagella (SPGF38; 618433), Coutton et al. (2019) identified homozygosity for a 5-bp deletion (c.1284_1288delACAAA, NM_032131.5) in exon 10 of the ARMC2 gene, causing a frameshift predicted to result in a premature termination codon (Lys428AsnfsTer3). The mutation was not found in in-house controls or in the dbSNP, 1000 Genomes Project, NHLBI Exome Variant Server, or gnomAD databases.

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

Last Updated: Apr 23, 2022