DMC1

DNA meiotic recombinase 1

Basic information

Region (hg38): 22:38518948-38570204

Links

ENSG00000100206

∙ NCBI:11144 ∙ OMIM:602721 ∙ HGNC:2927 ∙ Uniprot:Q14565 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

spermatogenic failure (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DMC1 gene.

not_specified (23 variants)
Non-obstructive_azoospermia (3 variants)
not_provided (2 variants)
Azoospermia (2 variants)
Premature_ovarian_failure (1 variants)
Cryptozoospermia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007068.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense	2 clinvar	3 clinvar	25 clinvar		1 clinvar	31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	2	3	25	0	1

Highest pathogenic variant AF is 0.00000547675

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DMC1	protein_coding	protein_coding	ENST00000216024	13	51338

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000506	0.994	125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.27	145	195	0.744	0.0000107	2235
Missense in Polyphen		50	80.142	0.62389		872
Synonymous	-0.301	67	63.9	1.05	0.00000352	639
Loss of Function	2.41	11	23.6	0.466	0.00000135	275

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000653	0.000653
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000653	0.000653
South Asian	0.000229	0.000229
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: May participate in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks. {ECO:0000250}.;
Pathway: Ovarian Infertility Genes (Consensus)

Recessive Scores

pRec: 0.124

Intolerance Scores

loftool: 0.588
rvis_EVS: -0.14
rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

pHI: 0.536
hipred: Y
hipred_score: 0.809
ghis: 0.441

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.672

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Dmc1
Phenotype: reproductive system phenotype; endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: DNA recombinase assembly;ovarian follicle development;oocyte maturation;mitotic recombination;synapsis;reciprocal meiotic recombination;male meiosis I;spermatogenesis;spermatid development;female gamete generation;strand invasion;meiotic cell cycle
Cellular component: chromosome, telomeric region;condensed nuclear chromosome;nucleus;chromosome
Molecular function: recombinase activity;DNA binding;double-stranded DNA binding;single-stranded DNA binding;protein binding;ATP binding;DNA-dependent ATPase activity