HROB

protein-coding

homologous recombination factor with OB-fold

Gene summary

Predicted to enable single-stranded DNA binding activity. Involved in DNA synthesis involved in DNA repair and interstrand cross-link repair. Located in site of DNA damage. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C17orf53

MANE transcript

NM_001171251.3

Inheritance

—

ClinVar variants

P:3U:14

Top phenotype

Ovarian dysgenesis 11

gnomAD constraint

pLI —, LoF o/e 0.73

Max pathogenic AF

—

Genomic locus

chr17:44,141,906-44,162,476

External References & Databases

Ensembl (ENSG00000125319)

Transcript & Mutation Effects

hg38 • Region Span ~20.6 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 HROB variants in ClinVar

3 Conditions Cataloged

Ovarian dysgenesis 11Total: 5

not specifiedTotal: 4

Premature ovarian insufficiencyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001171251.3. 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			1 clinvar			1
missense			8 clinvar			8
nonsense	2 clinvar					2
start loss						0
frameshift		1 clinvar				1
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	2	1	14	0	0	17

Highest pathogenic variant AF is 0.0000027362325

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 103 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001171251.3	RefSeq	NP_001164722.1	10	MANE Select
ENST00000585683.6	Ensembl	ENSP00000466618.1	10	MANE Select
NM_001321310.2	RefSeq	NP_001308239.1	7	Standard
NM_001321311.2	RefSeq	NP_001308240.1	10	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000319977
Coding exons: 10
Length: 20571
Individuals with no LoFs: 125707
Homozygous LoFs: 0
Heterozygous LoFs: 40
Defined: 125747
p: 0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.576	323	353	0.914	0.0000199	4171
Missense (PolyPhen)		56	85.269	0.65674		1022
Synonymous	-0.0817	139	138	1.01	0.00000752	1394
Loss of Function	1.34	20	27.6	0.725	0.00000160	294

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00020	0.00020	rare
South Asian	0.000065	0.000065	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0744

Intolerance Scores

LoFtool: 0.924
RVIS EVS: 0.2
RVIS percentile EVS: 67.43

Essentials

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

Gene Damage Prediction

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