BRME1

break repair meiotic recombinase recruitment factor 1

Basic information

Region (hg38): 19:13882347-13906452

Previous symbols: [ "C19orf57" ]

Links

ENSG00000132016 ∙ NCBI:79173 ∙ OMIM:619276 ∙ HGNC:28153 ∙ Uniprot:Q0VDD7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BRME1 gene.

• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BRME1 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense				3		3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	0	4	1

Variants in BRME1

This is a list of pathogenic ClinVar variants found in the BRME1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-13882896-C-T			Likely benign (Jun 01, 2022)
19-13882951-G-A			Likely benign (Mar 01, 2023)
19-13889217-C-T		not specified	Uncertain significance (Aug 12, 2021)
19-13889383-G-T			Likely benign (Mar 01, 2023)
19-13889944-C-T			Likely benign (Jun 01, 2022)
19-13890280-A-C		not specified	Uncertain significance (Jul 13, 2021)
19-13890353-T-C		not specified	Uncertain significance (Sep 01, 2021)
19-13895382-C-T		not specified	Uncertain significance (Jul 20, 2021)
19-13905877-T-C			Benign (Dec 01, 2022)
19-13906446-A-T		Inborn genetic diseases	Uncertain significance (Nov 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BRME1	protein_coding	protein_coding	ENST00000346736	7	24105

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000138	0.992	125734	0	6	125740	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.376	354	374	0.945	0.0000207	4066
Missense in Polyphen		120	127.04	0.94459		1323
Synonymous	0.175	159	162	0.982	0.0000101	1369
Loss of Function	2.36	10	21.9	0.457	0.00000111	246

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000102	0.00000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0703

Intolerance Scores

• loftool: 0.897
• rvis_EVS: 2.05
• rvis_percentile_EVS: 97.77

Haploinsufficiency Scores

• pHI: 0.0693
• hipred: N
• hipred_score: 0.145
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 4930432K21Rik

Gene ontology

• Biological process: multicellular organism development
• Cellular component: cellular_component
• Molecular function: molecular_function;protein binding