DMC1

DNA meiotic recombinase 1

Basic information

Region (hg38): 22:38518948-38570204

Links

ENSG00000100206NCBI:11144OMIM:602721HGNC:2927Uniprot:Q14565AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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.

EffectPLPVUSLBBSum
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

GeneTypeBio TypeTranscript Coding Exons Length
DMC1protein_codingprotein_codingENST00000216024 1351338
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00005060.9941257110371257480.000147
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.271451950.7440.00001072235
Missense in Polyphen5080.1420.62389872
Synonymous-0.3016763.91.050.00000352639
Loss of Function2.411123.60.4660.00000135275

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
Ashkenazi Jewish0.000.00
East Asian0.0006530.000653
Finnish0.0001390.000139
European (Non-Finnish)0.0001060.000105
Middle Eastern0.0006530.000653
South Asian0.0002290.000229
Other0.0003260.000326

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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