BRME1

protein-coding

break repair meiotic recombinase recruitment factor 1

Gene summary

Predicted to enable damaged DNA binding activity. Predicted to be involved in meiosis I; protein localization to site of double-strand break; and spermatogenesis. Predicted to be located in chromosome. Predicted to be active in site of double-strand break. [provided by Alliance of Genome Resources, Apr 2025]

Previous symbols:

C19orf57

MANE transcript

NM_001345843.2

Inheritance

—

ClinVar variants

U:12B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.46

Max pathogenic AF

—

Genomic locus

chr19:13,882,348-13,906,452

External References & Databases

Ensembl (ENSG00000132016)

Transcript & Mutation Effects

hg38 • Region Span ~24.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to BRME1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 5

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001345843.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	1 clinvar		5
missense			5 clinvar	3 clinvar		8
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	12	4	0	16

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 41 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001345843.2	RefSeq	NP_001332772.2	8	MANE Select
ENST00000586783.6	Ensembl	ENSP00000465822.1	8	MANE Select
NM_001345844.2	RefSeq	NP_001332773.2	7	Standard
NM_001345846.2	RefSeq	NP_001332775.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

multicellular organism development

Molecular Function

molecular_function
protein binding

Cellular Component

cellular_component

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000346736
Coding exons: 7
Length: 24105
Individuals with no LoFs: 125734
Homozygous LoFs: 0
Heterozygous LoFs: 6
Defined: 125740
p: 0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.376	354	374	0.945	0.0000207	4066
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.000010	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0703

Intolerance Scores

LoFtool: 0.897
RVIS EVS: 2.05
RVIS percentile EVS: 97.77

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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