QRICH2

protein-coding

glutamine rich 2

Gene summary

Involved in flagellated sperm motility and negative regulation of ubiquitin-dependent protein catabolic process. Located in sperm flagellum. Implicated in spermatogenic failure 35. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001388453.1

Inheritance

ClinVar variants

P:15U:250B:84

Top phenotype

Spermatogenic failure 35

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr17:76,274,049-76,308,276

External References & Databases

Ensembl (ENSG00000129646)

Transcript & Mutation Effects

hg38 • Region Span ~34.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

spermatogenic failure 35STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0032686

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Spermatogenic failure 35AR

Manifestation: Genitourinary

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 30683861

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to QRICH2 variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 266

not providedTotal: 37

QRICH2-related disorderTotal: 34

Spermatogenic failure 35Total: 13

AsthenoteratozoospermiaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001388453.1. 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			6 clinvar	30 clinvar	4 clinvar	40
missense			239 clinvar	37 clinvar	13 clinvar	289
nonsense	4 clinvar	4 clinvar	2 clinvar			10
start loss						0
frameshift		5 clinvar				5
splice donor/acceptor (+/-2bp)		2 clinvar	3 clinvar			5
Total	4	11	250	67	17	349

Highest pathogenic variant AF is 0.000102255195

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001388453.1	RefSeq	NP_001375382.1	19	MANE Select
ENST00000680821.2	Ensembl	ENSP00000504874.1	19	MANE Select
NM_032134.3	RefSeq	NP_115510.2	19	Standard
ENST00000262765.10	Ensembl	ENSP00000262765.5	19	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000262765
Coding exons: 19
Length: 33632
Individuals with no LoFs: 125568
Homozygous LoFs: 0
Heterozygous LoFs: 180
Defined: 125748
p: 0.000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.792	900	969	0.928	0.0000601	10724
Missense (PolyPhen)		246	262.48	0.93721		3079
Synonymous	0.681	342	358	0.954	0.0000207	3429
Loss of Function	2.02	54	72.6	0.744	0.00000395	778

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0027	0.0026	notable
Latino/Admixed American	0.00054	0.00052	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00060	0.00060	rare
Finnish	0.00023	0.00023	rare
European (Non-Finnish)	0.00074	0.00074	rare
South Asian	0.00056	0.00056	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0694

Intolerance Scores

LoFtool: 0.985
RVIS EVS: 1.67
RVIS percentile EVS: 96.32

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0594

Gene Damage Prediction

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