HNRNPCL2

Chr 1

heterogeneous nuclear ribonucleoprotein C like 2

Also known as: HNRNPCP5

NCBI Gene: 440563 ENSG00000275774 UniProt: B2RXH8

The protein enables identical protein binding and is predicted to function in ribonucleoprotein complexes within the nucleus, potentially involved in nucleosome assembly. Based on the available data, there are no established disease associations or inheritance patterns documented for mutations in this gene. This gene appears to be primarily of research interest at present without clear clinical significance for pediatric neurological disorders.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Predicted to be part of ribonucleoprotein complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

DNmechanism

Clinical Summary— HNRNPCL2

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ClinVar Variants

52 VUS of 58 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

This gene — mechanism propensity

0.6356th %ile

GOF

0.4085th %ile

LOF

0.56top 25%

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

58 submitted variants in ClinVar

ClinVar

Classification Summary

VUS52

Likely Benign6

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	52	0	52
Likely Benign	5	1	6
Benign	0	0	0
Total	57	1	58

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

26 pathogenic / likely-pathogenic (of 36) ClinVar copy-number / structural variants overlap HNRNPCL2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →