NM_001164496.2(CFAP44):c.2005_2006del (p.Met669fs) AND Spermatogenic failure 20

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 24, 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:: RCV000496068.4

Allele description [Variation Report for NM_001164496.2(CFAP44):c.2005_2006del (p.Met669fs)]

NM_001164496.2(CFAP44):c.2005_2006del (p.Met669fs)

Genes:

LOC127898559:SPICE1-CFAP44 [Gene]
CFAP44:cilia and flagella associated protein 44 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q13.2

Genomic location:

Preferred name:

NM_001164496.2(CFAP44):c.2005_2006del (p.Met669fs)

HGVS:

NC_000003.12:g.113380945_113380946del
NM_001164496.2:c.2005_2006delMANE SELECT
NM_018338.3:c.2005_2006del
NP_001157968.1:p.Met669fs
NP_060808.2:p.Met669fs
NC_000003.11:g.113099792_113099793del
NM_018338.3:c.2005_2006delAT

Protein change:

M669fs

Links:

OMIM: 617559.0001; dbSNP: rs780798708

NCBI 1000 Genomes Browser:

rs780798708

Molecular consequence:

NM_001164496.2:c.2005_2006del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018338.3:c.2005_2006del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Spermatogenic failure 20
Identifiers:: MONDO: MONDO:0054724; MedGen: C4539824; OMIM: 617593

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Cpgi4045 AND (alive[prop]) (0)
Gene
Effect of antiretroviral prophylaxis on gene expression in the vagina
Effect of antiretroviral prophylaxis on gene expression in the vagina
Effect of antiretroviral prophylaxis on gene expression in the vagina

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000584055	OMIM	no assertion criteria provided	Pathogenic (Jun 24, 2019)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 28552195, 29277146

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000584055

OMIM

no assertion criteria provided

Pathogenic
(Jun 24, 2019)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.

Tang S, Wang X, Li W, Yang X, Li Z, Liu W, Li C, Zhu Z, Wang L, Wang J, Zhang L, Sun X, Zhi E, Wang H, Li H, Jin L, Luo Y, Wang J, Yang S, Zhang F.

Am J Hum Genet. 2017 Jun 1;100(6):854-864. doi: 10.1016/j.ajhg.2017.04.012. Epub 2017 May 25.

PubMed [citation]

PMID:: 28552195
PMCID:: PMC5473723

Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).

Sha YW, Wang X, Xu X, Su ZY, Cui Y, Mei LB, Huang XJ, Chen J, He XM, Ji ZY, Bao H, Yang X, Li P, Li L.

Reprod Sci. 2019 Jan;26(1):26-34. doi: 10.1177/1933719117749756. Epub 2017 Dec 25.

PubMed [citation]

PMID:: 29277146

Details of each submission

From OMIM, SCV000584055.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a Chinese man (P002) with infertility due to multiple morphologic abnormalities of sperm flagella (SPGF20; 617593), Tang et al. (2017) identified homozygosity for a 2-bp deletion (c.2005_2006delAT, NM_018338.3) in the CFAP44 gene, causing a frameshift resulting in a premature termination codon (Met669ValfsTer13). The mutation was present in heterozygosity in his unaffected parents and was not found in 984 ethnically matched controls, but was detected in the ExAC database at a frequency of 8.3 x 10(-6).

In a Chinese man (P4) with infertility due to multiple morphologic abnormalities of sperm flagella, Sha et al. (2019) identified homozygosity for the previously reported 2-bp deletion (c.2005_2006del) in the CFAP44 gene.

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

Last Updated: Mar 26, 2023

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